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Early fetal anatomy screening: who, what, when and why?

Van Mieghem, Tim; Hindryckx, An; Van Calsteren, Kristel

Current Opinion in Obstetrics and Gynecology: April 2015 - Volume 27 - Issue 2 - p 143–150
doi: 10.1097/GCO.0000000000000161
PRENATAL DIAGNOSIS: Edited by James F. Smith Jr.
Editor's Choice

Purpose of review This article reviews the potential benefits and downsides of early anatomy screening.

Recent findings There is increasing evidence that about 50% of severe fetal anomalies can be diagnosed prior to 14 weeks of gestation. ‘Red flags’ such as an increased nuchal or intracranial translucency, tricuspid valve regurgitation, a small biparietal diameter, a single umbilical artery or an abnormal retronasal triangle should raise the sonographer's suspicion of a congenital defect and warrant a more thorough fetal assessment, which often includes transvaginal scanning. Care should, however, be taken not to overinterpret first-trimester findings as false-positive rates of 3–4% have been reported. With more subtle findings, and especially if a heart defect is suspected, a sonographic reassessment after 15 weeks’ gestation is indicated. Patients should be counseled that findings could worsen but also improve with time.

Summary Basic fetal anomaly screening should be recommended, piggybacked on the routine first-trimester (aneuploidy screening) ultrasound, both for low and high-risk populations. First-trimester anatomy screening seems particularly useful in obese women, whose fetuses are difficult to screen at the midtrimester ultrasound and in multiple gestation. Noninvasive prenatal testing using cell-free fetal DNA can complement but should not replace first-trimester ultrasound.

Division of Woman and Child, Department of Obstetrics and Gynecology, Maternal-Fetal Medicine, University Hospitals Leuven, Leuven, Belgium

Correspondence to Dr Tim Van Mieghem, Dienst Gynecologie-Verloskunde, Universitaire ziekenhuizen Leuven, Herestraat 49, Leuven 3000, België. Tel: +32 16 344635; fax: +32 16 344205; e-mail:

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