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Review
. 2024 May 9;5(5):CD014715.
doi: 10.1002/14651858.CD014715.pub2.

Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations

Marieke Fj Buijtendijk  1   2 , Bo B Bet  2   3 , Mariska Mg Leeflang  4 , Harsha Shah  5 , Tom Reuvekamp  1 , Timothy Goring  1 , Daniel Docter  1 , Melanie Gmm Timmerman  1 , Yousif Dawood  1   2   3 , Malou A Lugthart  2   3 , Bente Berends  1 , Jacqueline Limpens  6 , Eva Pajkrt  2   3 , Maurice Jb van den Hoff  1   7 , Bernadette S de Bakker  1   2   3   8
Affiliations
Review

Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations

Marieke Fj Buijtendijk et al. Cochrane Database Syst Rev. .

Abstract

Background: Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies.

Objectives: To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation.

Search methods: We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies.

Selection criteria: Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem.

Data collection and analysis: Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity.

Main results: Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons.

Authors' conclusions: A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.

PubMed Disclaimer

Conflict of interest statement

Marieke Buijtendijk was supported by a PhD fellowship funded by a TKI‐LSH Dutch Top Sector Life Sciences & Health consortium grant, where Samsung Medison South Korea was a contributor to the pool of funds supporting the fellowship. Samsung loans ultrasound equipment to the department for conducting pre‐clinical research projects. Additionally, she was invited to present during a webinar on embryology and first‐trimester 3D ultrasound imaging organised by the American Institute for Ultrasound in Medicine (AIUM) in collaboration with NeuroLogica, a subsidiary of Samsung Electronics, for which the department received payment.

Bo Bet and Mariska Leeflang received no funding and report no conflicts of interest.

Harsha Shah has received funding from Samsung Medison South Korea to support travel costs for research in three‐dimensional ultrasound. She received payments for lectures/presentations from NeuroLogica Corporation first‐trimester 3D ultrasound imaging.

Tom Reuvekamp, Timothy Goring, Daniël Docter and Melanie Timmerman received no funding and report no conflicts of interest.

Yousif Dawood received funding from the AMC PhD scholarship (University of Amsterdam) for four years for the conception of a microfocus computed tomography (micro‐CT) based three‐dimensional atlas of human fetal development. There is no conflict of interest.

Malou Lugthart, Bente Berends and Jacqueline Limpens do not receive funding. There is no conflict of interest.

Eva Pajkrt received funding from ZonMW for the Pessary or Cerclage to prevent preterm delivery in women with short cervical length and a history of preterm birth (PC) study (study number: 837002406; Koullali 2017) and receives money from ZonMW for the Expectant Management versus Induction of Labor (PROMEXIL) Follow‐up trial (study number: 843002826; de Ruigh 2021). She was appointed the Minister of Health, Welfare and Sport and the Minister of Security and Justice to the role of chairperson of the review commission for late pregnancy termination and termination of life of newborns (appointed on 27 January 2016) and has been reimbursed expenses for attending meetings.

Maurice van den Hoff obtained funding for a PhD fellowship through a TKI‐LSH Dutch Top Sector Life Sciences & Health consortium grant, where Samsung was a contributor to the pool of funds supporting the fellowship. Samsung loans ultrasound equipment to the department for conducting pre‐clinical research projects. Dr. van den Hoff is Past‐Chair of the European Society of Cardiology (ESC) Working Group Development, Anatomy and Pathology. From September 2012 onward, he held various roles, including board member, treasurer, vice chair and chair. During this time, he received support for travel expenses to attend ESC meetings.

Bernadette de Bakker declares no conflicts of interests.

Figures

1
1
Clinical pathways in single‐ and two‐stage screening approaches. The horizontal arrow indicates the timeline with pregnancy duration in gestational weeks and the postnatal period, respectively. In a single‐stage approach (grey shaded area, solid black arrows), women are offered a fetal anomaly scan during the second trimester of pregnancy (at 18 to 22 weeks' gestation). In a two‐stage approach, women are offered an early anomaly scan (performed at 11 to 14 weeks' gestation) in addition to a routine second‐trimester anomaly scan (at 18 to 22 weeks' gestation). IUFD: intra‐uterine fetal demise; TP: true‐positive test result (anomaly suspected/detected on ultrasound imaging and confirmed after birth); FP: false‐positive test result (anomaly suspected/detected on ultrasound imaging, but not confirmed after birth); TN: true‐negative test result (no anomaly suspected/detected on ultrasound imaging and no anomaly found after birth); FN: false‐negative test result (an anomaly was found after birth, which was not detected on ultrasound imaging).
2
2
PRISMA flow diagram for selection of studies from January 1997 to July 2022.
3
3
Risk of bias and applicability concerns summary: review authors' judgements about each domain for each study included in the meta‐analyses of test accuracy of a first‐trimester scan.
4
4
Risk of bias and applicability concerns summary: review authors' judgements about each domain for each study included in the meta‐analyses of test accuracy of a first + second‐trimester scan combined in a two‐stage screening approach.
5
5
Risk of bias and applicability concerns summary: review authors' judgements about each domain for each study included in the meta‐analyses of test accuracy of a single second‐trimester scan in a single‐stage screening approach.
6
6
Risk of bias and applicability concerns graph: review authors' judgements about each domain presented for the 101 reports that were extracted from 87 included studies. Multiple reports were extracted from Boyd 2000 (n = 12) and Yu 2011 (n = 4), both of which reported on the accuracy of a single second‐trimester scan.
7
7
Sensitivity of a first‐trimester scan in detecting fetal structural anomalies overall, and within individual organ systems, before 14 weeks' gestation. The width of the 95% confidence intervals is indicated by the vertical black lines. Meta‐analysis of sensitivity was not possible for genital and ear, face and neck anomalies due to a lack of variation between studies. Sensitivity of a first‐trimester scan in detecting genital anomalies could be derived from eight studies and ranged from 0.0% to 0.0%. Sensitivity of a first‐trimester scan in detecting ear, face and neck anomalies could be derived from 16 studies and ranged from 0.0% (14 studies) to 50.0% (two studies).
8
8
Sensitivity of a first + second‐trimester combined scan in detecting fetal structural anomalies overall, and within individual organ systems, before 24 weeks' gestation. The width of the 95% confidence intervals is indicated by the vertical black lines. Meta‐analysis of sensitivity was not possible for genital anomalies due to a lack of variation between studies. Sensitivity of a first + second‐trimester scan combined in detecting genital anomalies could be derived from six studies and ranged from 0.0% to 8.1%.
9
9
Sensitivity of a single second‐trimester combined scan in detecting fetal structural anomalies overall, and within individual organ systems, before 24 weeks' gestation. The width of the 95% confidence intervals is indicated by the vertical black lines. Meta‐analysis of sensitivity was not possible for genital anomalies due to a lack of variation between studies. Sensitivity of a single second‐trimester scan in detecting genital anomalies could be derived from six studies and ranged from 0.0% (five studies) to 33.3% (one study).
10
10
A to C Plots of sensitivity against year of study completion of studies included in the analysis of the accuracy of a first‐trimester scan (A), a first + second‐trimester scan combined (B) and a single second‐trimester scan (C) in detecting fetuses affected by structural anomalies overall. There was an increase in the estimated sensitivity of a first‐trimester scan and a first + second‐trimester scan over time, whereas the sensitivity of a single second‐trimester scan decreased. D to F Plots of sensitivity against prevalence of isolated ventricular septal defects (VSDs) in the reported cohorts. Studies that found a VSD prevalence below 1.7 per 1000 fetuses among their cohort had a higher sensitivity than those that found a VSD prevalence of ≥ 1.7 per 1000 fetuses. A low VSD prevalence in a reported cohort was assumed to be indicative of under‐reporting of internal anomalies that are asymptomatic at birth (such as isolated VSDs), resulting in an overestimation of sensitivity in these studies.
11
11
The proportion of the total number of structural anomalies that was accounted for by gross structural anomalies across study cohorts. The graph shows that for five of the eight gross anomalies for which we determined their relative contribution to the total number of anomalies, their relative contribution was two to five times higher among the first‐ and second‐trimester scan studies (two‐stage screening approach), than among the single second‐trimester scan studies (single‐stage screening approach), suggestive of a difference in the spectrum of anomalies between these groups of studies.
1
1. Test
First‐trimester scan: fetuses affected
2
2. Test
First‐trimester scan: anomalies
3
3. Test
First‐trimester scan: subgroup analysis*
5
5. Test
First‐trimester scan: major anomalies
6
6. Test
First‐trimester scan: lethal anomalies
7
7. Test
First‐trimester scan: severe or moderate anomalies
8
8. Test
First‐trimester scan: minor anomalies
9
9. Test
First‐trimester scan: central nevous system overall
10
10. Test
First‐trimester scan: anencephaly
11
11. Test
First‐trimester scan: spina bifida
12
12. Test
First‐trimester scan: holoprosencephaly
13
13. Test
First‐trimester scan: hydrocephalus
14
14. Test
First‐trimester scan: encephalocele
15
15. Test
First‐trimester scan: central nervous system misc
16
16. Test
First‐trimester scan: respiratory overall
17
17. Test
First‐trimester scan: CDH
18
18. Test
First‐trimester scan: CPAM
19
19. Test
First‐trimester scan: respiratory misc
20
20. Test
First‐trimester scan: cardiac overall
21
21. Test
First‐trimester scan: septal defect
22
22. Test
First‐trimester scan: valvular anomaly (biventricular heart)
23
23. Test
First‐trimester scan: venous return anomaly
24
24. Test
First‐trimester scan: aortic arch anomaly
25
25. Test
First‐trimester scan: conotruncal anomaly
26
26. Test
First‐trimester scan: HRHS
27
27. Test
First‐trimester scan: HLHS
28
28. Test
First‐trimester scan: other single ventricle defect
29
29. Test
First‐trimester scan: complex defect with atrial isomerism
30
30. Test
First‐trimester scan: miscellaneous and unspecified major cardiac defects
31
31. Test
First‐trimester scan: minor cardiac defects
32
32. Test
First‐trimester scan: thoracic and abdominal wall overall
33
33. Test
First‐trimester scan: gastroschisis
34
34. Test
First‐trimester scan: omphalocele
35
35. Test
First‐trimester scan: thoracic and abdominal wall misc
36
36. Test
First‐trimester scan: gastrointestinal overall
37
37. Test
First‐trimester scan: oesophageal atresia
38
38. Test
First‐trimester scan: duodenal atresia
39
39. Test
First‐trimester scan: small bowel atresia
40
40. Test
First‐trimester scan: gastrointestinal misc
41
41. Test
First‐trimester scan: urinary tract overall
42
42. Test
First‐trimester scan: renal agenesis overall
43
43. Test
First‐trimester scan: renal agenesis unilateral
44
44. Test
First‐trimester scan: renal agenesis bilateral
45
45. Test
First‐trimester scan: MCDK overall
46
46. Test
First‐trimester scan: MCDK unilateral
47
47. Test
First‐trimester scan: MCDK bilateral
48
48. Test
First‐trimester scan: other renal dysplasias overall
49
49. Test
First‐trimester scan: other renal dysplasias unilateral
50
50. Test
First‐trimester scan: other renal dysplasias bilateral
51
51. Test
First‐trimester scan: upper urinary tract obstruction
52
52. Test
First‐trimester scan: lower urinary tract obstruction
53
53. Test
First‐trimester scan: urinary tract misc.
54
54. Test
First‐trimester scan: genital overall
55
55. Test
First‐trimester scan: ambiguous genitalia
56
56. Test
First‐trimester scan: genital misc
57
57. Test
First‐trimester scan: musculoskeletal overall
58
58. Test
First‐trimester scan: skeletal dysplasias overall
59
59. Test
First‐trimester scan: lethal skeletal dysplasia
60
60. Test
First‐trimester scan: non‐lethal skeletal dysplasia
61
61. Test
First‐trimester scan: limb reduction defect
62
62. Test
First‐trimester scan: talipes
63
63. Test
First‐trimester scan: musculoskeletal misc.
64
64. Test
First‐trimester scan: ear face and neck overall
65
65. Test
First‐trimester scan: orofacial clefts overall
66
66. Test
First‐trimester scan: cleft lip
67
67. Test
First‐trimester scan: cleft lip and cleft palate
68
68. Test
First‐trimester scan: cleft palate
69
69. Test
First‐trimester scan: ear face and neck misc
70
70. Test
First‐trimester scan: multisystem anomalies overall
71
71. Test
First‐trimester scan: fetal hydrops
72
72. Test
First‐trimester scan: MCA or syndrome
73
73. Test
First‐trimester scan: other
74
74. Test
First + second‐trimester scan: fetuses affected
75
75. Test
First + second‐trimester scan: anomalies
76
76. Test
First + second‐trimester scan: subgroup analysis*
78
78. Test
First + second‐trimester scan: major anomalies
79
79. Test
First + second‐trimester scan: lethal anomalies
80
80. Test
First + second‐trimester scan: severe or moderate anomalies
81
81. Test
First + second‐trimester scan: minor anomalies
82
82. Test
First + second‐trimester scan: central nervous system overall
83
83. Test
First + second‐trimester scan: anencephaly
84
84. Test
First + second‐trimester scan: spina bifida
85
85. Test
First + second‐trimester scan: holoprosencephaly
86
86. Test
First + second‐trimester scan: hydrocephalus
87
87. Test
First + second‐trimester scan: encephalocele
88
88. Test
First + second‐trimester scan: central nervous system misc
89
89. Test
First + second‐trimester scan: respiratory overall
90
90. Test
First + second‐trimester scan: CDH
91
91. Test
First + second‐trimester scan: CPAM
92
92. Test
First + second‐trimester scan: respiratory misc
93
93. Test
First + second‐trimester scan: cardiac overall
94
94. Test
First + second‐trimester scan: septal defect
95
95. Test
First + second‐trimester scan: valvular anomaly (biventricular heart)
96
96. Test
First + second‐trimester scan: venous return anomaly
97
97. Test
First + second‐trimester scan: aortic arch anomaly
98
98. Test
First + second‐trimester scan: conotruncal anomaly
99
99. Test
First + second‐trimester scan: HRHS
TST-100
TST-100. Test
First + second‐trimester scan:: HLHS
TST-101
TST-101. Test
First + second‐trimester scan: other single ventricle defect
TST-102
TST-102. Test
First + second‐trimester scan: complex defect with atrial isomerism
TST-103
TST-103. Test
First + second‐trimester scan: miscellaneous cardiac defects
TST-104
TST-104. Test
First + second‐trimester scan: minor cardiac defects
TST-105
TST-105. Test
First + second‐trimester scan: thoracic and abdominal wall overall
TST-106
TST-106. Test
First + second‐trimester scan: gastroschisis
TST-107
TST-107. Test
First + second‐trimester scan: omphalocele
TST-108
TST-108. Test
First + second‐trimester scan: thoracic and abdominal wall misc
TST-109
TST-109. Test
First + second‐trimester scan: gastrointestinal overall
TST-110
TST-110. Test
First + second‐trimester scan: oesophageal atresia
TST-111
TST-111. Test
First + second‐trimester scan: duodenal atresia
TST-112
TST-112. Test
First + second‐trimester scan: small bowel atresia
TST-113
TST-113. Test
First + second‐trimester scan: gastrointestinal misc
TST-114
TST-114. Test
First + second‐trimester scan: urinary tract overall
TST-115
TST-115. Test
First + second‐trimester scan: renal agenesis overall
TST-116
TST-116. Test
First + second‐trimester scan: renal agenesis unilateral
TST-117
TST-117. Test
First + second‐trimester scan: renal agenesis bilateral
TST-118
TST-118. Test
First + second‐trimester scan: MCDK overall
TST-119
TST-119. Test
First + second‐trimester scan: MCDK unilateral
TST-120
TST-120. Test
First + second‐trimester scan: MCDK bilateral
TST-121
TST-121. Test
First + second‐trimester scan: other renal dysplasias overall
TST-122
TST-122. Test
First + second‐trimester scan: other renal dysplasias unilateral
TST-123
TST-123. Test
First + second‐trimester scan: other renal dysplasias bilateral
TST-124
TST-124. Test
First + second‐trimester scan: upper urinary tract obstruction
TST-125
TST-125. Test
First + second‐trimester scan: lower urinary tract obstruction
TST-126
TST-126. Test
First + second‐trimester scan: urinary tract misc.
TST-127
TST-127. Test
First + second‐trimester scan: genital overall
TST-128
TST-128. Test
First + second‐trimester scan: ambiguous genitalia
TST-129
TST-129. Test
First + second‐trimester scan: genital misc
TST-130
TST-130. Test
First + second‐trimester scan: musculoskeletal overall
TST-131
TST-131. Test
First + second‐trimester scan: skeletal dysplasia overall
TST-132
TST-132. Test
First + second‐trimester scan: lethal skeletal dysplasia
TST-133
TST-133. Test
First + second‐trimester scan: non‐lethal skeletal dysplasia
TST-134
TST-134. Test
First + second‐trimester scan: limb reduction defect
TST-135
TST-135. Test
First + second‐trimester scan: talipes
TST-136
TST-136. Test
First + second‐trimester scan: musculoskeletal misc
TST-137
TST-137. Test
First + second‐trimester scan: ear face and neck overall
TST-138
TST-138. Test
First + second‐trimester scan: orofacial clefts overall
TST-139
TST-139. Test
First + second‐trimester scan: cleft lip
TST-140
TST-140. Test
First + second‐trimester scan: cleft lip and palate
TST-141
TST-141. Test
First + second‐trimester scan: cleft palate
TST-142
TST-142. Test
First + second‐trimester scan: ear face and neck misc.
TST-143
TST-143. Test
First + second‐trimester scan: multisystem anomalies overall
TST-144
TST-144. Test
First + second‐trimester scan: fetal hydrops
TST-145
TST-145. Test
First + second‐trimester scan: MCA or syndrome
TST-146
TST-146. Test
First + second‐trimester scan: other
TST-147
TST-147. Test
Single second‐trimester scan: fetuses affected
TST-148
TST-148. Test
Single second‐trimester scan: anomalies
TST-149
TST-149. Test
Single second‐trimester scan: subgroup analysis*
TST-151
TST-151. Test
Single second‐trimester scan: major anomalies
TST-152
TST-152. Test
Single second‐trimester scan: lethal anomalies
TST-153
TST-153. Test
Single second‐trimester scan: severe or moderate anomalies
TST-154
TST-154. Test
Single second‐trimester scan: minor abnormalities
TST-155
TST-155. Test
Single second‐trimester scan: central nervous system overall
TST-156
TST-156. Test
Single second‐trimester scan: anencephaly
TST-157
TST-157. Test
Single second‐trimester scan: spina bifida
TST-158
TST-158. Test
Single second‐trimester scan: holoprosencephaly
TST-159
TST-159. Test
Single second‐trimester scan: hydrocephalus
TST-160
TST-160. Test
Single second‐trimester scan: encephalocele
TST-161
TST-161. Test
Single second‐trimester scan: central nervous system misc
TST-162
TST-162. Test
Single second‐trimester scan: respiratory overall
TST-163
TST-163. Test
Single second‐trimester scan: CDH
TST-164
TST-164. Test
Single second‐trimester scan: CPAM
TST-165
TST-165. Test
Single second‐trimester scan: respiratory misc
TST-166
TST-166. Test
Single second‐trimester scan: cardiac overall
TST-167
TST-167. Test
Single second‐trimester scan: septal defect
TST-168
TST-168. Test
Single second‐trimester scan: valvular anomaly (biventricular heart)
TST-169
TST-169. Test
Single second‐trimester scan: venous return anomaly
TST-170
TST-170. Test
Single second‐trimester scan: aortic arch anomaly
TST-171
TST-171. Test
Single second‐trimester scan: conotruncal anomaly
TST-172
TST-172. Test
Single second‐trimester scan: HRHS
TST-173
TST-173. Test
Single second‐trimester scan: HLHS
TST-174
TST-174. Test
Single second‐trimester scan: other single ventricle defect
TST-175
TST-175. Test
Single second‐trimester scan: complex defects with atrial isomerism
TST-176
TST-176. Test
Single second‐trimester scan: miscellaneous and unspecified major cardiac defects
TST-177
TST-177. Test
Single second‐trimester scan: minor cardiac defects
TST-178
TST-178. Test
Single second‐trimester scan: thoracic and abdominal wall overall
TST-179
TST-179. Test
Single second‐trimester scan: gastroschisis
TST-180
TST-180. Test
Single second‐trimester scan: omphalocele
TST-181
TST-181. Test
Single second‐trimester scan: thoracic and abdominal wall misc
TST-182
TST-182. Test
Single second‐trimester scan: gastrointestinal overall
TST-183
TST-183. Test
Single second‐trimester scan: oesophageal atresia
TST-184
TST-184. Test
Single second‐trimester scan: duodenal atresia
TST-185
TST-185. Test
Single second‐trimester scan: small bowel atresia
TST-186
TST-186. Test
Single second‐trimester scan: gastrointestinal misc
TST-187
TST-187. Test
Single second‐trimester scan: urinary tract overall
TST-188
TST-188. Test
Single second‐trimester scan: renal agenesis overall
TST-189
TST-189. Test
Single second‐trimester scan: renal agenesis unilateral
TST-190
TST-190. Test
Single second‐trimester scan: renal agenesis bilateral
TST-191
TST-191. Test
Single second‐trimester scan: MCDK overall
TST-192
TST-192. Test
Single second‐trimester scan: MCDK unilateral
TST-193
TST-193. Test
Single second‐trimester scan: MCDK bilateral
TST-194
TST-194. Test
Single second‐trimester scan: other renal dysplasias overall
TST-195
TST-195. Test
Single second‐trimester scan: other renal dysplasias unilateral
TST-196
TST-196. Test
Single second‐trimester scan: other renal dysplasias bilateral
TST-197
TST-197. Test
Single second‐trimester scan: upper urinary tract obstruction
TST-198
TST-198. Test
Single second‐trimester scan: lower urinary tract obstruction
TST-199
TST-199. Test
Single second‐trimester scan: urinary tract misc
TST-200
TST-200. Test
Single second‐trimester scan: genital overall
TST-201
TST-201. Test
Single second‐trimester scan: ambiguous genitalia
TST-202
TST-202. Test
Single second‐trimester scan: genital misc
TST-203
TST-203. Test
Single second‐trimester scan: musculoskeletal overall
TST-204
TST-204. Test
Single second‐trimester scan: skeletal dyplasia overall
TST-205
TST-205. Test
Single second‐trimester scan: lethal skeletal dysplasia
TST-206
TST-206. Test
Single second‐trimester scan: non‐lethal skeletal dysplasia
TST-207
TST-207. Test
Single second‐trimester scan: limb reduction defect
TST-208
TST-208. Test
Single second‐trimester scan: talipes
TST-209
TST-209. Test
Single second‐trimester scan: musculoskeletal misc
TST-210
TST-210. Test
Single second‐trimester scan: ear face and neck overall
TST-211
TST-211. Test
Single second‐trimester scan: orofacial clefts overall
TST-212
TST-212. Test
Single second‐trimester scan: cleft lip
TST-213
TST-213. Test
Single second‐trimester scan: cleft lip and cleft palate
TST-214
TST-214. Test
Single second‐trimester scan: cleft palate
TST-215
TST-215. Test
Single second‐trimester scan: ear face and neck misc
TST-216
TST-216. Test
Single second‐trimester scan: multisystem anomalies overall
TST-217
TST-217. Test
Single second‐trimester scan: fetal hydrops
TST-218
TST-218. Test
Single second‐trimester scan: MCA or syndrome
TST-219
TST-219. Test
Single second‐trimester scan: other
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  • doi: 10.1002/14651858.CD014715

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References

References to studies included in this review

Abu‐Rustum 2010 {published data only}
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Bardi 2022 {published data only}
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Bister 2011 {published data only}
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Biswas 2013 {published data only}
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Bodin 2018 {published data only}
    1. Bodin CR, Rasmussen MM, Tabor A, Westbom L, Tiblad E, Ekelund CK, et al. Ultrasound in prenatal diagnostics and its impact on the epidemiology of spina bifida in a national cohort from Denmark with a comparison to Sweden. BioMed Research International 2018;2018:9203985. - PMC - PubMed
Boyd 2000‐1 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐10 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐11 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐12 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐2 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐3 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐4 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐5 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐6 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐7 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐8 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2000‐9 {published data only}
    1. Boyd PA, Wellesley DG, De Walle HE, Tenconi R, Garcia-Minaur S, Zandwijken GR, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening 2000;7(4):169-74. - PubMed
Boyd 2011 {published data only}
    1. Boyd PA, Tonks AM, Rankin J, Rounding C, Wellesley D, Draper ES. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening 2011;18(1):2-7. - PubMed
Brown 2021 {published data only}
    1. Brown I, Rolnik DL, Fernando S, Menezes M, Ramkrishna J, Costa FD, et al. Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation. Prenatal Diagnosis 2021;41(13):1675-84. - PubMed
Carvalho 2002 {published data only}
    1. Carvalho MH, Brizot M L, Lopes LM, Chiba CH, Miyadahira S, Zugaib M. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenatal Diagnosis 2002;22(1):1-4. - PubMed
Chelli 2009 {published data only}
    1. Chelli D, Gaddour I, Najar I, Boudaya F, Zouaoui B, Sfar E, et al. First trimester ultrasound: an early screening tool for fetal structural and chromosomic abnormalities. [French]. Tunisie Medicale 2009;87(12):857-62. - PubMed
Chen 2009 {published data only}
    1. Chen M, Leung TY, Sahota DS, Fung TY, Chan LW, Law LW, et al. Ultrasound screening for fetal structural abnormalities performed by trained midwives in the second trimester in a low-risk population--an appraisal. Acta Obstetricia et Gynecologica Scandinavica 2009;88(6):713-9. - PubMed
Choudry 2009 {published data only}
    1. Choudhry MS, Rahman N, Boyd P, Lakhoo K. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatric Surgery International 2009;25(8):727-30. - PubMed
Dane 2007 {published data only}
    1. Dane B, Dane C, Sivri D, Kiray M, Cetin A, Yayla M. Ultrasound screening for fetal major abnormalities at 11-14 weeks. Acta Obstetricia et Gynecologica Scandinavica 2007;86(6):666-70. - PubMed
Del Bianco 2006 {published data only}
    1. Del Bianco A, Russo S, Lacerenza N, Rinaldi M, Rinaldi G, Nappi L, et al. Four chamber view plus three-vessel and trachea view for a complete evaluation of the fetal heart during the second trimester. Journal of Perinatal Medicine 2006;34(4):309-12. - PubMed
de Robertis 2017 {published data only}
    1. De Robertis V, Rembouskos G, Fanelli T, Volpe G, Muto B, Volpe P. The three-vessel and trachea view (3VTV) in the first trimester of pregnancy: an additional tool in screening for congenital heart defects (CHD) in an unselected population. Prenatal Diagnosis 2017;37(7):693-8. - PubMed
Drukker 2020 {published data only}
    1. Drukker L, Cavallaro A, Salim I, Ioannou C, Impey L, Papageorghiou A T. How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study. American Journal of Obstetrics & Gynecology 2020;223(6):919.e1-13. - PubMed
Drysdale 2002 {published data only}
    1. Drysdale K, Ridley D, Walker K, Higgins B, Dean T. First-trimester pregnancy scanning as a screening tool for high-risk and abnormal pregnancies in a district general hospital setting. Journal of Obstetrics & Gynaecology 2002;22(2):159-65. - PubMed
Ebrashy 2019 {published data only}
    1. Ebrashy A, Aboulghar M, Elhodiby M, El-Dessouky S H, Elsirgany S, Gaafar H M, et al. Fetal heart examination at the time of 13 weeks scan: a 5 years' prospective study. Journal of Perinatal Medicine 2019;47(8):871-8. - PubMed
Erenel 2019 {published data only}
    1. Erenel H, Karslı MF, Özel A, Korkmaz SO, Arısoy R, Saltık L, et al. The importance of four-chamber and three-vessel (3-V) views in the screening of fetal cardiac anomalies in the first trimester. Perinatal Journal 2019;27(3):169-75.
Fleurke‐Rozema 2014 {published data only}
    1. Fleurke-Rozema JH, Vogel TA, Voskamp BJ, Pajkrt E, den Berg PP, Beekhuis JR, et al. Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands. Ultrasound in Obstetrics & Gynecology 2014;43(5):553-6. - PubMed
Fleurke‐Rozema 2016 {published data only}
    1. Fleurke-Rozema JH, de Kamp K, Bakker MK, Pajkrt E, Bilardo CM, Snijders RJ. Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands. Ultrasound in Obstetrics & Gynecology 2016;48(4):458-63. - PubMed
Fleurke‐Rozema 2017 {published data only}
    1. Fleurke-Rozema H, de Kamp K, Bakker M, Pajkrt E, Bilardo C, Snijders R. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program. Prenatal Diagnosis 2017;37(4):383-8. - PubMed
Galindo 2011 {published data only}
    1. Galindo A, Herraiz I, Escribano D, Lora D, Melchor JC, la Cruz J. Prenatal detection of congenital heart defects: a survey on clinical practice in Spain. Fetal Diagnosis & Therapy 2011;29(4):287-95. - PubMed
Gallot 2007 {published data only}
    1. Gallot D, Boda C, Ughetto S, Perthus I, Robert-Gnansia E, Francannet C, et al. Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. Ultrasound in Obstetrics & Gynecology 2007;29(3):276-83. - PubMed
Gireada 2022 {published data only}
    1. Gireada R, Socolov D, Mihalceanu E, Matasariu R, Ursache A, Akad M, et al. The additional role of the 3-vessels and trachea view in screening for congenital heart disease. Medicina 2022;58(2):10. - PMC - PubMed
Gornall 2003 {published data only}
    1. Gornall AS, Budd JL, Draper ES, Konje JC, Kurinczuk JJ. Congenital cystic adenomatoid malformation: accuracy of prenatal diagnosis, prevalence and outcome in a general population. Prenatal Diagnosis 2003;23(12):997-1002. - PubMed
Grande 2012 {published data only}
    1. Grande M, Arigita M, Borobio V, Jimenez J M, Fernandez S, Borrell A. First-trimester detection of structural abnormalities and the role of aneuploidy markers. Ultrasound in Obstetrics & Gynecology 2012;39(2):157-63. - PubMed
Grandjean 1999 {published data only}
    1. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. American Journal of Obstetrics & Gynecology 1999;181(2):446-54. - PubMed
Gu 2011 {published data only}
    1. Gu Y, Hu YL, Ru T, Yang Y, Dai CY, Yang LJ. Combination prenatal ultrasound screening in early and middle stage of pregnancy for detecting fetal abnormalities. [Chinese]. Chinese Journal of Medical Imaging Technology 2011;27(10):2087-90.
Hafner 2003 {published data only}
    1. Hafner E, Schuller T, Metzenbauer M, Schuchter K, Philipp K. Increased nuchal translucency and congenital heart defects in a low-risk population. Prenatal Diagnosis 2003;23(12):985-9. - PubMed
Hartge 2011 {published data only}
    1. Hartge DR, Weichert J, Krapp M, Germer U, Gembruch U, Axt-Fliedner R. Results of early foetal echocardiography and cumulative detection rate of congenital heart disease. Cardiology in the Young 2011;21(5):505-17. - PubMed
Hautala 2019 {published data only}
    1. Hautala J, Gissler M, Ritvanen A, Tekay A, Pitkanen-Argillander O, Stefanovic V, et al. The implementation of a nationwide anomaly screening programme improves prenatal detection of major cardiac defects: an 11-year national population-based cohort study. British Journal of Obstetrics & Gynaecology 2019;126(7):864-73. - PubMed
He 2016 {published data only}
    1. He H, Wan J, Yu L, Sui S, Guo W. Three-dimensional ultrasound in diagnosis of fetal limb deformities. [Chinese]. Chinese Journal of Medical Imaging Technology 2016;32(11):1714-8.
Hernadi 1997 {published data only}
    1. Hernadi L, Torocsik M. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenatal Diagnosis 1997;17(8):753-9. - PubMed
Hildebrand 2010 {published data only}
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Iliescu 2013 {published data only}
    1. Iliescu D, Tudorache S, Comanescu A, Antsaklis P, Cotarcea S, Novac L, et al. Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol. Ultrasound in Obstetrics & Gynecology 2013;42(3):300-9. - PubMed
Ingale 2017 {published data only}
    1. Ingale SY, Menon SS. To correlate the incidence of congenital anomalies on antenatal scan and those detected in postnatal period in Krishna Institute of Medical Sciences, Karad. Journal of Evolution of Medical and Dental Sciences 2017;6(5):395-7.
Jacobsen 2011 {published data only}
    1. Jakobsen TR, Sogaard K, Tabor A. Implications of a first trimester Down syndrome screening program on timing of malformation detection. Acta Obstetricia et Gynecologica Scandinavica 2011;90(7):728-36. - PubMed
Johnson 1997 {published data only}
    1. Johnson SP, Sebire NJ, Snijders RJ, Tunkel S, Nicolaides KH. Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound in Obstetrics & Gynecology 1997;9(1):14-6. - PubMed
Kenkhuis 2018 {published data only}
    1. Kenkhuis MJA, Bakker M, Bardi F, Fontanella F, Bakker MK, Fleurke-Rozema JH, et al. Effectiveness of 12-13-week scan for early diagnosis of fetal congenital anomalies in the cell-free DNA era. Ultrasound in Obstetrics & Gynecology 2018;51(4):463-9. - PubMed
Krapp 2011 {published data only}
    1. Krapp M, Ludwig A, Axt-Fliedner R, Kreiselmaier P. First trimester fetal echocardiography: which planes and defects can be displayed during the daily routine in a prenatal medicine unit? Ultraschall in der Medizin 2011;32(4):362-6. - PubMed
Lee 1998 {published data only}
    1. Lee K, Kim SY, Choi SM, Kim JS, Lee BS, Seo K, et al. Effectiveness of prenatal ultrasonography in detecting fetal anomalies and perinatal outcome of anomalous fetuses. Yonsei Medical Journal 1998;39(4):372-82. - PubMed
Leiroz 2021 {published data only}
    1. Leiroz R, Aquino MA, Santos KP, Monteiro MDC, Aires TSF, Araujo Junior E, et al. Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil. Journal of Gynecology Obstetrics and Human Reproduction 2021;50(10):102225. - PubMed
Li 2008 {published data only}
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Liao 2021 {published data only}
    1. Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y, et al. Routine first-trimester ultrasound screening using a standardized anatomical protocol. American Journal of Obstetrics & Gynecology 2021;224(4):396.e1-396.e15. - PubMed
Maarse 2011 {published data only}
    1. Maarse W, Pistorius LR, Van Eeten WK, Breugem CC, Kon M, Van den Boogaard MJ, et al. Prenatal ultrasound screening for orofacial clefts. Ultrasound in Obstetrics & Gynecology 2011;38(4):434-9. - PubMed
McAuliffe 2005 {published data only}
    1. McAuliffe FM, Fong KW, Toi A, Chitayat D, Keating S, Johnson JA. Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study. American Journal of Obstetrics & Gynecology 2005;193(3 Pt 2):1260-5. - PubMed
Natu 2014 {published data only}
    1. Natu N, Wadnere N, Yadav S, Kumar R. Utility of first trimester anomaly scan in screening of congenital abnormalities in low and high risk pregnancies. JK Science 2014;16(4):151-5.
Novotna 2012 {published data only}
    1. Novotna M, Haslik L, Svabik K, Zizka Z, Belosovicova H, Brestak M, et al. Detection of fetal major structural anomalies at the 11-14 ultrasound scan in an unselected population. Ceska Gynekologie 2012;77(4):330-5. - PubMed
Ogge 2006 {published data only}
    1. Ogge G, Gaglioti P, Maccanti S, Faggiano F, Todros T. Prenatal screening for congenital heart disease with four-chamber and outflow-tract views: a multicenter study. Ultrasound in Obstetrics & Gynecology 2006;28(6):779-84. - PubMed
Orlandi 2014 {published data only}
    1. Orlandi E, Rossi C, Perino A, Musico G, Orlandi F. Simplified first-trimester fetal cardiac screening (four chamber view and ventricular outflow tracts) in a low-risk population. Prenatal Diagnosis 2014;34(6):558-63. - PubMed
Oztekin 2009 {published data only}
    1. Oztekin O, Oztekin D, Tinar S, Adibelli Z. Ultrasonographic diagnosis of fetal structural abnormalities in prenatal screening at 11-14 weeks. Diagnostic & Interventional Radiology 2009;15(3):221-5. - PubMed
Petousis 2020 {published data only}
    1. Petousis S, Sotiriadis A, Margioula-Siarkou C, Tsakiridis I, Christidis P, Kyriakakis M, et al. Detection of structural abnormalities in fetuses with normal karyotype at 11-13 weeks using the anatomic examination protocol of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). Journal of Maternal-Fetal & Neonatal Medicine 2020;33(15):2581-7. - PubMed
Pilalis 2012 {published data only}
    1. Pilalis A, Basagiannis C, Eleftheriades M, Faros E, Troukis E, Armelidou E, et al. Evaluation of a two-step ultrasound examination protocol for the detection of major fetal structural defects. Journal of Maternal-Fetal & Neonatal Medicine 2012;25(9):1814-7. - PubMed
Rydberg 2017 {published data only}
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Sainz 2020 {published data only}
    1. Sainz JA, Gutierrez L, Garcia-Mejido J, Ramos Z, Bonomi MJ, Fernandez-Palacin A, et al. Early fetal morphological evaluation (11-13 + 6 weeks) accomplished exclusively by transabdominal imaging and following routine midtrimester fetal ultrasound scan recommendations. Since when can it be performed? Journal of Maternal-Fetal & Neonatal Medicine 2020;33(7):1140-50. - PubMed
Saltvedt 2006 {published data only}
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Salvador 2005 {published data only}
    1. Salvador J, Borrell A, Lladonosa A. Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona. Prenatal Diagnosis 2005;25(11):991-6. - PubMed
Sepulveda 2013 {published data only}
    1. Sepulveda W, Wong AE. First trimester screening for holoprosencephaly with choroid plexus morphology ('butterfly' sign) and biparietal diameter. Prenatal Diagnosis 2013;33(13):1233-7. - PubMed
Smrcek 2006 {published data only}
    1. Smrcek JM, Berg C, Geipel A, Fimmers R, Axt-Fliedner R, Diedrich K, et al. Detection rate of early fetal echocardiography and in utero development of congenital heart defects. Journal of Ultrasound in Medicine 2006;25(2):187-96. - PubMed
Souka 2006 {published data only}
    1. Souka AP, Pilalis A, Kavalakis I, Antsaklis P, Papantoniou N, Mesogitis S, et al. Screening for major structural abnormalities at the 11- to 14-week ultrasound scan. American Journal of Obstetrics & Gynecology 2006;194(2):393-6. - PubMed
Srisupundit 2006 {published data only}
    1. Srisupundit K, Tongsong T, Sirichotiyakul S, Chanprapaph P. Fetal structural anomaly screening at 11-14 weeks of gestation at Maharaj Nakorn Chiang Mai Hospital. Journal of the Medical Association of Thailand 2006;89(5):588-93. - PubMed
Stefos 1999 {published data only}
    1. Stefos T, Plachouras N, Sotiriadis A, Papadimitriou D, Almoussa N, Navrozoglou I, et al. Routine obstetrical ultrasound at 18-22 weeks: our experience on 7,236 fetuses. Journal of Maternal-Fetal Medicine 1999;8(2):64-9. - PubMed
Syngelaki 2011 {published data only}
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Syngelaki 2019 {published data only}
    1. Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides K H. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. Ultrasound in Obstetrics & Gynecology 2019;54(4):468-76. - PubMed
Taipale 2004 {published data only}
    1. Taipale P, Ammala M, Salonen R, Hiilesmaa V. Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation. Acta Obstetricia et Gynecologica Scandinavica 2004;83(12):1141-6. - PubMed
Takita 2016 {published data only}
    1. Takita H, Hasegawa J, Arakaki T, Nakamura M, Hamada S, Tokunaka M, et al. Usefulness of antenatal ultrasound fetal morphological assessments in the first and second trimester: a study at a single Japanese university hospital. Journal of Medical Ultrasonics 2016;43(1):57-62. - PubMed
Tiechl 2021 {published data only}
    1. Tiechl J, Abdel Azim S, Leitner K, Berger A, Mutz-Dehbalaie I, Goebel G, et al. Screening for open spina bifida in a routine clinical setting at the first-trimester scan: a prospective multicentre cohort study. Fetal Diagnosis & Therapy 2021;48(2):96-102. - PubMed
Timbolschi 2015 {published data only}
    1. Timbolschi D, Schaefer E, Monga B, Fattori D, Dott B, Favre R, et al. Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009. Fetal Diagnosis & Therapy 2015;37(1):6-17. - PubMed
Tudorache 2016 {published data only}
    1. Tudorache S, Ungureanu A, Dragusin R C, Sorop FM, Cara ML, Iliescu DG. First trimester diagnostic accuracy of a two-dimensional simplified ultrasound technique in congenital heart diseases and great arteries anomalies. Obstetrica si Ginecologie 2016;64(3):165-76.
Tydeman 2013 {published data only}
    1. Tydeman G, Clegg I, Brown S. Detection rates of the Fetal Anomaly Screening Programme (FASP) 11 key conditions in one unit: is the recommended annual audit of any value? Prenatal Diagnosis 2013;33(9):910-2. - PubMed
van Velzen 2016 {published data only}
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Vayna 2018 {published data only}
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Waern 2021 {published data only}
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Wang 2013 {published data only}
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Wayne 2002 {published data only}
    1. Wayne C, Cook K, Sairam S, Hollis B, Thilaganathan B. Sensitivity and accuracy of routine antenatal ultrasound screening for isolated facial clefts. British Journal of Radiology 2002;75(895):584-9. - PubMed
Whitlow 1999 {published data only}
    1. Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economides DL. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. British Journal of Obstetrics & Gynaecology 1999;106(9):929-36. - PubMed
Wu 2009 {published data only}
    1. Wu Q, Li M, Ju L, Zhang W, Yang X, Yan Y, et al. Application of the 3-vessel view in routine prenatal sonographic screening for congenital heart disease. Journal of Ultrasound in Medicine 2009;28(10):1319-24. - PubMed
Yu 2011‐1 {published data only}
    1. Yu Z, Xi Y, Ding W, Han S, Cao L, Zhu C, et al. Congenital heart disease in a Chinese hospital: pre- and postnatal detection, incidence, clinical characteristics and outcomes. Pediatrics International 2011;53(6):1059-65. - PubMed
Yu 2011‐2 {published data only}
    1. Yu Z, Xi Y, Ding W, Han S, Cao L, Zhu C, et al. Congenital heart disease in a Chinese hospital: pre- and postnatal detection, incidence, clinical characteristics and outcomes. Pediatrics International 2011;53(6):1059-65. - PubMed
Yu 2011‐3 {published data only}
    1. Yu Z, Xi Y, Ding W, Han S, Cao L, Zhu C, et al. Congenital heart disease in a Chinese hospital: pre- and postnatal detection, incidence, clinical characteristics and outcomes. Pediatrics International 2011;53(6):1059-65. - PubMed
Yu 2011‐4 {published data only}
    1. Yu Z, Xi Y, Ding W, Han S, Cao L, Zhu C, et al. Congenital heart disease in a Chinese hospital: pre- and postnatal detection, incidence, clinical characteristics and outcomes. Pediatrics International 2011;53(6):1059-65. - PubMed
Zhang 2020 {published data only}
    1. Zhang N, Dong H, Wang P, Wang Z, Wang Y, Guo Z. The value of obstetric ultrasound in screening fetal nervous system malformation. World Neurosurgery 2020;138:645-53. - PubMed
Zhang 2021 {published data only}
    1. Zhang Y, Zhang W, Xu H, Liu K. Epidemiological aspects, prenatal screening and diagnosis of congenital heart defects in Beijing. Frontiers in Cardiovascular Medicine 2021;8:777899. - PMC - PubMed
Zheng 2014 {published data only}
    1. Zheng J, Jiao Y, Wang HF, Xiong Y, Lin Q, Xu FH, et al. Ultrasonographic diagnosis of fetal limb abnormalities at 11-13 weeks of gestation. [Chinese]. Chinese Journal of Medical Imaging Technology 2014;30(8):1230-3.

References to studies excluded from this review

Abu‐Rustum 2010a {published data only}
    1. Abu-Rustum RS, Daou L, Abu-Rustum SE. Role of ultrasonography in early gestation in the diagnosis of congenital heart defects. Journal of Ultrasound in Medicine 2010;29(5):817-21. - PubMed
Anumba 2005 {published data only}
    1. Anumba DO, Scott JE, Plant ND, Robson SC. Diagnosis and outcome of fetal lower urinary tract obstruction in the northern region of England. Prenatal Diagnosis 2005;25(1):7-13. - PubMed
Becker 2005 {published data only}
    1. Becker R, Albig M, Gasiorek-Wiens A, Entezami M, Knoll T, Wegner R D. The potential of first trimester anomaly scan and first trimester fetal echocardiography as screening procedures in a medium risk population. Journal of Obstetrics and Gynecology of India 2005;55(3):228-30.
Becker 2006 {published data only}
    1. Becker R, Wegner RD. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Ultrasound in Obstetrics & Gynecology 2006;27(6):613-8. - PubMed
Boyd 1998 {published data only}
    1. Boyd PA, Chamberlain P, Hicks NR. 6-year experience of prenatal diagnosis in an unselected population in Oxford, UK. Lancet 1998;352(9140):1577-81. - PubMed
Boyd 2011a {published data only}
    1. Boyd PA, Tonks AM, Rankin J, Rounding C, Wellesley D, Draper ES, et al. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening 2011;18(1):2-7. - PubMed
Boyd 2012 {published data only}
    1. Boyd PA, Rounding C, Chamberlain P, Wellesley D, Kurinczuk JJ. The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period. British Journal of Obstetrics & Gynaecology 2012;119(9):1131-40. - PubMed
Brantberg 2017 {published data only}
    1. Brantberg A, Blaas HG, Haugen SE, Eik-Nes SH. Esophageal obstruction-prenatal detection rate and outcome. Ultrasound in Obstetrics & Gynecology 2007;30(2):180-7. - PubMed
Braz 2018 {published data only}
    1. Braz P, Machado A, Matias Dias, C. The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016. European Journal of Medical Genetics 2018;61(9):508-12. - PubMed
Brenes 2003 {published data only}
    1. Brenes J, Asenjo JE, Gomez M, Costales C, Santos J Ga, De Marco E, et al. Evaluation of prenatal diagnosis of fetal cardiopathies. [Spanish]. Toko-Ginecologia Practica 2003;62(668):188-95.
Bullen 2001 {published data only}
    1. Bullen PJ, Rankin JM, Robson SC. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. American Journal of Obstetrics & Gynecology 2001;184(6):1256-62. - PubMed
Byrne 2018 {published data only}
    1. Byrne JJ, Morgan JL, Twickler DM, McIntire DD, Dashe JS. Utility of follow-up standard sonography for fetal anomaly detection. American Journal of Obstetrics & Gynecology 2020;222(6):615.e1-9. - PubMed
Campana 2010 {published data only}
    1. Campana H, Ermini M, Aiello HA, Krupitzki H, Castilla EE, Lopez-Camelo JS. Prenatal sonographic detection of birth defects in 18 hospitals from South America. Journal of Ultrasound in Medicine 2010;29(2):203-12. - PubMed
Cash 2001 {published data only}
    1. Cash C, Set P, Coleman N. The accuracy of antenatal ultrasound in the detection of facial clefts in a low-risk screening population. Ultrasound in Obstetrics & Gynecology 2001;18(5):432-6. - PubMed
Cedergren 2006 {published data only}
    1. Cedergren M, Selbing A. Detection of fetal structural abnormalities by an 11-14-week ultrasound dating scan in an unselected Swedish population. Acta Obstetricia et Gynecologica Scandinavica 2006;85(8):912-5. - PubMed
Chatzipapas 1999 {published data only}
    1. Chatzipapas IK, Whitlow BJ, Economides DL. The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. Ultrasound in Obstetrics & Gynecology 1999;13(3):196-9. - PubMed
Chelemen 2011 {published data only}
    1. Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides K H. Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagnosis & Therapy 2011;29(2):127-34. - PubMed
Chen 2019 {published data only}
    1. Chen FC, Bacovsky A, Entezami M, Henrich W. Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts' hands. Journal of Perinatal Medicine 2019;47(6):619-24. - PubMed
Chu 2017 {published data only}
    1. Chu C, Yan Y, Ren Y, Li X, Gui Y. Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: a Chinese multicenter study. Acta Obstetricia et Gynecologica Scandinavica 2017;96(4):454-63. - PubMed
Chua 2000 {published data only}
    1. Chua LK, Rose DH. The detection rate of major and common foetal heart abnormalities in routine prenatal ultrasonography. Clinical Radiology 2000;55(11):897.
Clausen 2022 {published data only}
    1. Clausen AB, Garne E, Damkjaer M. Live birth prevalence of atrioventricular septal defect after the implementation of new prenatal screening guidelines. Danish Medical Journal 2022;69(2):13. - PubMed
Clementi 2000 {published data only}
    1. Clementi M, Tenconi R, Bianchi F, Stoll C. Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group. Prenatal Diagnosis 2000;20(11):870-5. - PubMed
Colosi 2015 {published data only}
    1. Colosi E, Musone R, Filardi G, Fabbo A. First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans. Journal of Prenatal Medicine 2015;9(3-4):24-8. - PMC - PubMed
Delmas 2017 {published data only}
    1. Delmas HL, Kohler M, Doray B, Lemery D, Francannet C, Quistrebert J, et al. Congenital unilateral renal agenesis: prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. Birth Defects Research 2017;109(15):1204-11. - PubMed
Duta 2021 {published data only}
    1. Duta S, Veduta A, Vayna AM, Panaitescu A, Nedelea F, Peltecu G. The outcome of structural heart defects diagnosed in the first trimester of pregnancy. Journal of Maternal-Fetal & Neonatal Medicine 2021;34(9):1389-94. - PubMed
Economides 1998 {published data only}
    1. Economides DL, Braithwaite JM. First trimester ultrasonographic diagnosis of fetal structural abnormalities in a low risk population. British Journal of Obstetrics & Gynaecology 1998;105(1):53-7. - PubMed
Eleftheriades 2012 {published data only}
    1. Eleftheriades M, Tsapakis E, Sotiriadis A, Manolakos E, Hassiakos D, Botsis D. Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities. Journal of Maternal-Fetal & Neonatal Medicine 2012;25(12):2546-50. - PubMed
Ensing 2014 {published data only}
    1. Ensing S, Kleinrouweler CE, Maas SM, Bilardo CM, Van der Horst CM, Pajkrt E. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts. Ultrasound in Obstetrics & Gynecology 2014;44(2):154-9. - PubMed
Eurenius 1999 {published data only}
    1. Eurenius K, Axelsson O, Cnattingius S, Eriksson L, Norsted T. Second trimester ultrasound screening performed by midwives; sensitivity for detection of fetal anomalies. Acta Obstetricia et Gynecologica Scandinavica 1999;78(2):98-104. - PubMed
Everwijn 2018 {published data only}
    1. Everwijn SMP, Nisselrooij AEL, Rozendaal L, Clur SAB, Pajkrt E, Hruda J, et al. The effect of the introduction of the three-vessel view on the detection rate of transposition of the great arteries and tetralogy of Fallot. Prenatal Diagnosis 2018;38(12):951-7. - PubMed
Ficara 2020 {published data only}
    1. Ficara A, Syngelaki A, Hammami A, Akolekar R, Nicolaides K H. Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities. Ultrasound in Obstetrics & Gynecology 2020;55(1):75-80. - PubMed
Forci 2020 {published data only}
    1. Forci K, Alami MH, Bouaiti E, Slaoui M, Alaoui AM, Izgua AT. Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies. BMC Pediatrics 2020;20(1):272. - PMC - PubMed
Fricke 2021 {published data only}
    1. Fricke K, Bhat M, Avdikos V, Asp A, Brodszki J, Thurn L. High prenatal detection rates of complex congenital heart defects (CHD). Lakartidningen 2021;118(11):17. - PubMed
Garne 2001 {published data only}
    1. Garne E, Eurocat Working Group. Prenatal diagnosis of six major cardiac malformations in Europe--a population based study. Acta Obstetricia et Gynecologica Scandinavica 2001;80(3):224-8. - PubMed
Garne 2002 {published data only}
    1. Garne E, Haeusler M, Barisic I, Gjergja R, Stoll C, Clementi M, et al. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound in Obstetrics & Gynecology 2002;19(4):329-33. - PubMed
Grandjean 1998 {published data only}
    1. Grandjean H, Larroque D, Levi S, Eurofetus Team. Sensitivity of routine ultrasound screening of pregnancies in the Eurofetus database. In: Levi S, Chervenak F A, editors(s). Ultrasound Screening for Fetal Anomalies: Is It Worth It?: Screening Revisited after the Eurofetus Data. 847 edition. New York: New York Acad Sciences, 1998:118-24. - PubMed
Haeusler 2002 {published data only}
    1. Haeusler MC, Berghold A, Stoll C, Barisic I, Clementi M, Group Euroscan Study. Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries. Prenatal Diagnosis 2002;22(7):616-23. - PubMed
Hafner 1998 {published data only}
    1. Hafner E, Scholler J, Schuchter K, Sterniste W, Philipp K. Detection of fetal congenital heart disease in a low-risk population. Prenatal Diagnosis 1998;18(8):808-15. - PubMed
Hunter 2000 {published data only}
    1. Hunter S, Heads A, Wyllie J, Robson S. Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstetric ultrasonographers. Heart 2000;84(3):294-8. - PMC - PubMed
Iliescu 2014 {published data only}
    1. Iliescu DG, Cara ML, Tudorache S, Antsaklis P, Novac LV, Antsaklis A, et al. Agenesis of ductus venosus in sequential first and second trimester screening. Prenatal Diagnosis 2014;34(11):1099-105. - PubMed
Itsukaichi 2018 {published data only}
    1. Itsukaichi M, Serikawa T, Yoshihara K, Suzuki H, Haino K, Yamaguchi M, et al. Effectiveness of fetal cardiac screening for congenital heart disease using a combination of the four-chamber view and three-vessel view during the second trimester scan. Journal of Obstetrics & Gynaecology Research 2018;44(1):49-53. - PubMed
Johnson 2012 {published data only}
    1. Johnson N, Bishop K, Trotman H, Reid M. Congenital abnormalities at a tertiary center in Jamaica: an 18-month maternal-fetal medicine experience. Journal of Maternal-Fetal & Neonatal Medicine 2012;25(6):687-91. - PubMed
Jorgensen 2015 {published data only}
    1. Jorgensen DE, Vejlstrup N, Jorgensen C, Maroun LL, Steensberg J, Hessellund A, et al. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening. Prenatal Diagnosis 2015;35(4):325-30. - PubMed
Kansal 2022 {published data only}
    1. Kansal K, Mittal M, Gupta A. Detection of congenital structural anomalies by mid trimester ultrasonography. Journal of Cardiovascular Disease Research 2022;13(1):1671-7.
Khoo 2008 {published data only}
    1. Khoo NS, Van Essen P, Richardson M, Robertson T. Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: a population analysis 1999-2003. Australian & New Zealand Journal of Obstetrics & Gynaecology 2008;48(6):559-63. - PubMed
Laurichesse 2017 {published data only}
    1. Laurichesse Delmas H, Kohler M, Doray B, Lemery D, Francannet C, et al. Congenital unilateral renal agenesis: prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. Birth Defects Research 2017;109(15):1204-11. - PubMed
Levi 2003 {published data only}
    1. Levi S, Zhang WH, Alexander S, Viart P, Grandjean H. Short-term outcome of isolated and associated congenital heart defects in relation to antenatal ultrasound screening. Ultrasound in Obstetrics and Gynecology 2003;21(6):532-8. - PubMed
Li 2019 {published data only}
    1. Li ZY, Chen YM, Qiu LQ, Chen DQ, Hu CG, Xu JY, et al. Prevalence, types, and malformations in congenital anomalies of the kidney and urinary tract in newborns: a retrospective hospital-based study. Italian Journal of Pediatrics 2019;45(1):50. - PMC - PubMed
Liao 2016 {published data only}
    1. Liao YM, Li SL, Luo GY, Wen HX, Ouyang SY, Chen CY, et al. Routine screening for fetal limb abnormalities in the first trimester. Prenatal Diagnosis 2016;36(2):117-26. - PubMed
Liao 2021a {published data only}
    1. Liao Y, Wen H, Luo G, Ouyang S, Bi J, Yuan Y, et al. Fetal open and closed spina bifida on a routine scan at 11 weeks to 13 weeks 6 days. Journal of Ultrasound in Medicine 2021;40(2):237-47. - PubMed
Liou 2011 {published data only}
    1. Liou JD, Huang YH, Hung TH, Hsieh CL, Hsieh TT, Lo LM. Prenatal diagnostic rates and postnatal outcomes of fetal orofacial clefts in a Taiwanese population. International Journal of Gynaecology & Obstetrics 2011;113(3):211-4. - PubMed
Long 1998 {published data only}
    1. Long G, Sprigg A. A comparative study of routine versus selective fetal anomaly ultrasound scanning. Journal of Medical Screening 1998;5(1):6-10. - PubMed
Ma 2018 {published data only}
    1. Ma Y, Zhang J, Yang X. Clinical application of standardized prenatal ultrasound screening during 11-13 weeks gestation. [Chinese]. Chinese Journal of Medical Imaging Technology 2018;34(1):86-9.
Magripes 1998 {published data only}
    1. Magriples U, Copel JA. Accurate detection of anomalies by routine ultrasonography in an indigent clinic population. American Journal of Obstetrics & Gynecology 1998;179(4):978-81. - PubMed
Marek 2011 {published data only}
    1. Marek J, Tomek V, Skovranek J, Povysilova V, Samanek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart 2011;97(2):124-30. - PubMed
Michailidis 2001 {published data only}
    1. Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound in Obstetrics & Gynecology 2001;17(2):102-5. - PubMed
Minnella 2020 {published data only}
    1. Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH. Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus. Ultrasound in Obstetrics & Gynecology 2020;55(5):637-44. - PubMed
Nakling 2005 {published data only}
    1. Nakling J, Backe B. Routine ultrasound screening and detection of congenital anomalies outside a university setting. Acta Obstetricia et Gynecologica Scandinavica 2005;84(11):1042-8. - PubMed
Nikkila 2006 {published data only}
    1. Nikkila A, Rydhstroem H, Kallen B, Jorgensen C. Ultrasound screening for fetal anomalies in southern Sweden: a population-based study. Acta Obstetricia et Gynecologica Scandinavica 2006;85(6):688-93. - PubMed
Ou 2022 {published data only}
    1. Ou Y, Bloom MS, Mai J, Francois M, Pan W, Xiao X, et al. Prenatal detection of congenital heart diseases using echocardiography: 12-year results of an improving program with 9782 cases. Frontiers in Public Health 2022;10:886262. - PMC - PubMed
Pavlicek 2020 {published data only}
    1. Pavlicek J, Piegzova A, Klaskova E, Kapralova S, Palatova A, Spacek R, et al. Development, effectiveness, and current possibilities in prenatal detection of congenital heart defects. Cor Et Vasa 2020;62(1):21-8.
Pitukkijronnakorn 2009 {published data only}
    1. Pitukkijronnakorn S, Chittacharoen A, Jetsawangsri T, Panburana P, Jaovisidha A, Roungsipragarn R, et al. The value of mid-trimester routine ultrasonographic screening in antenatal detection of congenital malformations. Journal of the Medical Association of Thailand 2009;92(6):748-53. - PubMed
Poggenpoel 2012 {published data only}
    1. Poggenpoel EJ, Geerts LT, Theron GB. The value of adding a universal booking scan to an existing protocol of routine mid-gestation ultrasound scan. International Journal of Gynecology & Obstetrics 2012;116(3):201-5. - PubMed
Queisser‐Luft 1998 {published data only}
    1. Queisser-Luft A, Stopfkuchen H, Stolz G, Schlaefer K, Merz E. Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five-year study of 20,248 newborn fetuses and infants. Prenatal Diagnosis 1998;18(6):567-76. - PubMed
Sainz 2015 {published data only}
    1. Sainz JA, Zurita MJ, Guillen I, Borrero C, Garcia-Mejido J, Almeida C, et al. Prenatal screening of congenital heart defects in population at low risk of congenital defects. A reality today. Anales de Pediatria 2015;82(1):27-34. - PubMed
Stoll 1998 {published data only}
    1. Stoll C, Alembik Y, Dott B, Meyer MJ, Pennerath A, Peter MO, et al. Evaluation of prenatal diagnosis of congenital heart disease. Prenatal Diagnosis 1998;18(8):801-7. - PubMed
Stoll 2000a {published data only}
    1. Stoll C, Dott B, Alembik Y, Roth M. Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination. Annales de Genetique 2000;43(1):11-4. - PubMed
Stoll 2000b {published data only}
    1. Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M. Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group. Prenatal Diagnosis 2000;20(10):811-8. - PubMed
Stoll 2001 {published data only}
    1. Stoll C, Garne E, Clementi M, Group Euroscan Study. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. Prenatal Diagnosis 2001;21(4):243-52. - PubMed
Stoll 2002 {published data only}
    1. Stoll C, Dott B, Alembik Y, De Geeter B. Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination. Annales de Genetique 2002;45(1):21-7. - PubMed
Tabor 2003 {published data only}
    1. Tabor A, Zdravkovic M, Perslev A, Moller LK, Pedersen BL. Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy. Acta Obstetricia et Gynecologica Scandinavica 2003;82(12):1092-8. - PubMed
Taipale 2003 {published data only}
    1. Taipale P, Ammala M, Salonen R, Hiilesmaa V. Learning curve in ultrasonographic screening for selected fetal structural anomalies in early pregnancy. Obstetrics & Gynecology 2003;101(2):273-8. - PubMed
Tegnander 2006 {published data only}
    1. Tegnander E, Eik-Nes SH. The examiner's ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound in Obstetrics & Gynecology 2006;28(1):8-14. - PubMed
Tegnander 2006a {published data only}
    1. Tegnander E, Williams W, Johansen OJ, Blaas HG, Eik-Nes SH. Prenatal detection of heart defects in a non-selected population of 30,149 fetuses--detection rates and outcome. Ultrasound in Obstetrics & Gynecology 2006;27(3):252-65. - PubMed
Todros 1997 {published data only}
    1. Todros T, Faggiano F, Chiappa E, Gaglioti P, Mitola B, Sciarrone A. Accuracy of routine ultrasonography in screening heart disease prenatally. Gruppo Piemontese for Prenatal Screening of Congenital Heart Disease. Prenatal Diagnosis 1997;17(10):901-6. - PubMed
Trines 2013 {published data only}
    1. Trines J, Fruitman D, Zuo KJ, Smallhorn JF, Hornberger LK, Mackie AS. Effectiveness of prenatal screening for congenital heart disease: assessment in a jurisdiction with universal access to health care. Canadian Journal of Cardiology 2013;29(7):879-85. - PubMed
Tudorache 2016a {published data only}
    1. Tudorache S, Cara M, Iliescu DG, Stoica A, Simionescu C, Novac LV, et al. Fetal kidneys ultrasound appearance in the first trimester - clinical significance and limits of counseling. Current Health Sciences Journal 2016;42(1):19-30. - PMC - PubMed
Tudorache 2016b {published data only}
    1. Tudorache S, Cara ML, Burada F, Simionescu C, Dragoescu AN, Iliescu DG. First trimester diagnostic accuracy of two-dimensional and four-dimensional ultrasound in major congenital heart diseases. Obstetrica si Ginecologie 2016;64(4):221-32.
van Allen 2006 {published data only}
    1. Van Allen MI, Boyle E, Thiessen P, McFadden D, Cochrane D, Chambers GK, et al. The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia. Journal of Applied Genetics 2006;47(2):151-8. - PubMed
van Dorsten 1998 {published data only}
    1. VanDorsten JP, Hulsey TC, Newman RB, Menard MK. Fetal anomaly detection by second-trimester ultrasonography in a tertiary center. American Journal of Obstetrics & Gynecology 1998;178(4):742-9. - PubMed
van Velzen 2015 {published data only}
    1. Velzen CL, Haak MC, Reijnders G, Rijlaarsdam ME, Bax CJ, Pajkrt E, et al. Prenatal detection of transposition of the great arteries reduces mortality and morbidity. Ultrasound in Obstetrics & Gynecology 2015;45(3):320-5. - PubMed
Vavilala 2011 {published data only}
    1. Vavilala S, Geeta K. The 11-13 weeks scan: where do we stand? A 5-year review at Fernandez Hospital. International Journal of Infertility and Fetal Medicine 2011;2(2):65-9.
Westin 2006 {published data only}
    1. Westin M, Saltvedt S, Bergman G, Kublickas M, Almstrom H, Grunewald C, et al. Routine ultrasound examination at 12 or 18 gestational weeks for prenatal detection of major congenital heart malformations? A randomised controlled trial comprising 36,299 fetuses. British Journal of Obstetrics & Gynaecology 2006;113(6):675-82. - PubMed
Wiesel 2005 {published data only}
    1. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C, Group Euroscan Study. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. European Journal of Medical Genetics 2005;48(2):131-44. - PubMed
Wong 2004 {published data only}
    1. Wong SF, Welsh A, Chan FY. Outcome of a routine ultrasound screening program in a tertiary center in Australia. International Journal of Gynaecology & Obstetrics 2004;87(2):153-4. - PubMed

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