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. 2015 Apr;103(4):260-8.
doi: 10.1002/bdra.23353. Epub 2015 Mar 28.

Advances in ultrasound imaging for congenital malformations during early gestation

William F Rayburn  1 , Jennifer A Jolley, Lynn L Simpson
Affiliations

Advances in ultrasound imaging for congenital malformations during early gestation

William F Rayburn et al. Birth Defects Res A Clin Mol Teratol. 2015 Apr.

Abstract

Background: With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age.

Methods: When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester.

Results: The best time for a standard complete fetal and placental scan is 18 to 20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility.

Conclusion: Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging.

Keywords: aneuploidy; early ultrasonography; malformations; nonviability; prenatal diagnosis.

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Conflict of interest statement

None of the authors of this manuscript have any conflict of interest.

Figures

Figure 1
Figure 1
Increased nuchal translucency in 12 week 1 day fetus
Figure 2
Figure 2
Figure 2A. Complete atrioventricular (AV) septal defect diagnosed at 13 weeks in a fetus with Down Syndrome. The four-chamber view demonstrates a deficient crux with an inlet ventricular septal (IVS) defect and an atrial septum primum defect. Figure 2B. Color Doppler demonstrates central flow across a common atrioventricular valve (arrow).
Figure 2
Figure 2
Figure 2A. Complete atrioventricular (AV) septal defect diagnosed at 13 weeks in a fetus with Down Syndrome. The four-chamber view demonstrates a deficient crux with an inlet ventricular septal (IVS) defect and an atrial septum primum defect. Figure 2B. Color Doppler demonstrates central flow across a common atrioventricular valve (arrow).
Figure 3
Figure 3
Normal four chamber view of the fetal heart at 12 weeks gestation. (RA=right atrium, RV=right ventricle, LA=left atrium, LV=left ventricle).
See this image and copyright information in PMC

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