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Meta-Analysis
. 2025 May;29(22):1-250.
doi: 10.3310/NLTP7102.

Clinical and cost-effectiveness of detailed anomaly ultrasound screening in the first trimester: a mixed-methods study

Jehan N Karim  1 , Helen Campbell  1 , Pranav Pandya  2 , Edward C F Wilson  3 , Zarko Alfirevic  4 , Trish Chudleigh  5 , Elizabeth Duff  6 , Jane Fisher  7 , Hilary Goodman  8 , Lisa Hinton  1 , Christos Ioannou  9 , Edmund Juszczak  10 , Louise Linsell  1 , Heather L Longworth  4 , Kypros H Nicolaides  11 , Anne Rhodes  12 , Gordon Smith  13 , Basky Thilaganathan  14 , Jim Thornton  10 , Gillian Yaz  1 , Oliver Rivero-Arias  1 , Aris T Papageorghiou  1
Affiliations
Meta-Analysis

Clinical and cost-effectiveness of detailed anomaly ultrasound screening in the first trimester: a mixed-methods study

Jehan N Karim et al. Health Technol Assess. 2025 May.

Abstract

Background: In the United Kingdom, pregnant women are offered two scans: at 11-14 and 18-20 weeks' gestation. Current guidance supports fetal anatomical screening at the second scan, but evidence suggests earlier detection is possible.

Objectives: To determine clinical and cost-effectiveness of a detailed two-dimensional ultrasound scan in the first trimester for detection of fetal anomalies, in addition to usual practice.

Design: Systematic review and meta-analysis. Nationwide survey. Analysis of National Congenital Anomaly Disease Registry data. Consensus procedure. Prospective survey of parental opinions. Probabilistic decision-analytic model for cost-effectiveness. Value-of-information analysis.

Setting: United Kingdom National Health Service.

Participants: Pregnant women and partners.

Interventions: Detailed anomaly ultrasound at 11-14 weeks' gestation, in addition to usual practice.

Main outcome measures: Diagnostic accuracy, protocol development, health economic modelling and value-of-information analysis.

Data sources: MEDLINE (OvidSP), EMBASE (OvidSP), Science Citation Index and Conference Proceedings Citation Index-Science (Web of Science Core Collection); National Congenital Anomaly Disease Registry; European Congenital Anomalies Registry; Surveys of National Health Service Trusts; screening sonographers, midwives and doctors; and parents; National Schedule of National Health Service Costs (2019-20).

Review methods: Systematic review and meta-analysis for diagnostic accuracy.

Results: First-trimester ultrasound detects 93.3% (95% confidence interval 90.4% to 95.7%) of a pre-selected group of eight major anomalies with specificity of 99.99% (95% confidence interval 99.98% to 99.99%) and positive predictive value of 96.5% (95% confidence interval 93.3 to 98.8, 416,877 fetuses, 40 studies). For major cardiac anomalies, the respective data are 55.8% (95% confidence interval 45.9% to 65.5%), 99.98% (95% confidence interval 99.97% to 99.99%) and 94.85% (95% confidence interval 91.63% to 97.32%, 306,872 fetuses, 45 studies). Of NHS trusts surveyed, 77% currently perform first-trimester anatomy assessment, with evidence of inequity of care; earlier screening resulted in more diagnoses before 16 weeks' gestation. A consensus procedure (n = 172) developed an anatomical protocol and minimum targets for diagnosis. Parental survey (n = 1374) indicated that over 90% would opt for such screening. Modelling of singleton pregnancies undergoing earlier anomaly screening using two-dimensional ultrasound was associated with increased mean healthcare costs per woman (£11, 95% confidence interval £1 to £29) and maternal quality-adjusted life-years (0.002065, 95% confidence interval 0.000565 to 0.00358), an incremental cost per quality-adjusted life-year of £5270, with likelihood of being cost-effective at £20,000 per quality-adjusted life-year of over 95%. Additional modelling predicted reductions in infant healthcare costs and quality-adjusted life-years. Decision uncertainty was low. Value-of-information analysis of cost-effectiveness results showed no groups of parameters for which further research to reduce uncertainty would likely prove cost-effective.

Limitations: Study heterogeneity; the lack of a universal reference standard; simplifying assumptions relating to economic model structure; and estimation of some parameters are documented and justified. The rarity of the conditions made estimation of longer-term maternal and infant costs and quality-adjusted life-years challenging, resulting in likely under-estimation of healthcare costs.

Conclusions: With standardisation and training, first-trimester ultrasound screening for fetal anomalies is clinically effective with over 90% detection for eight major conditions and low false-positive rates. Decision uncertainty around implementation is low and a prospective study would not be an efficient investment. Adding first-trimester anomaly screening to the current screening likely represents a cost-effective use of resources and is acceptable to parents.

Future work: Focus on developing an implementation framework to modify the current United Kingdom Fetal Anomaly Screening Programme.

Study registration: This study is registered as PROSPERO CRD42018111781 and CRD42018112434.

Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: 17/19/10) and is published in full in Health Technology Assessment; Vol. 29, No. 22. See the NIHR Funding and Awards website for further award information.

Keywords: FETAL ABNORMALITIES; FIRST TRIMESTER; HEALTH ECONOMICS; POPULATION SCREENING; PREGNANCY; SENSITIVITY; SPECIFICITY; SYSTEMATIC REVIEW; ULTRASOUND; VALUE OF INFORMATION.

Plain language summary

In the National Health Service, all women are offered two ultrasound scans during pregnancy: at 11–14 weeks, which confirms the baby is alive, takes measurements, and checks if there is more than one baby; and at 18–20 weeks, which checks whether the baby is developing as expected. Unfortunately, in about 2–3% of pregnancies, a serious physical condition (anomaly) is found at this second scan. With improvements in scanning equipment, almost half of these anomalies can now be picked up on the early scan. This has advantages for parents: extra time for testing, to speak to specialists or to prepare for the baby’s birth. For parents deciding on termination, having this done earlier can be safer. But there may be disadvantages: early scanning could suggest the baby has a condition which further testing shows not to be the case. This could cause worry and further unnecessary tests. Our research looks at whether earlier scanning would be the right approach, and if so, how this should be done. We conducted several studies to answer this question. First, we reviewed the experiences of hospitals who already offer this early scan. This identified which serious physical conditions can be found, and that the number of parents given a false alarm is relatively low. Second, we surveyed every National Health Service trust in England. Approximately 75% already perform an early anatomy scan, but with a lot of variation of what options are available to women. Next, we asked 172 doctors, midwives and sonographers to work together to plan how early scanning could be introduced. They recommended that every woman be scanned between 12 and 14 weeks, to look for one of eight major physical conditions. We then surveyed over a thousand parents to hear what they think. Over 90% felt that this earlier scan would be beneficial. Finally, we built a computer model to help us calculate the costs of this earlier scan. This suggested early screening would lead to fewer live births of babies with anomalies. It showed that an early scan would be associated with a small increase in healthcare costs, but also in positive health outcomes for each woman. The additional maternal benefits were considered worth the additional healthcare costs. We identified that there is already sufficient evidence to support this new policy of screening, and that it would not be a good use of money to carry out further research in this area.

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