Purpose of review: This review serves to explore literature published during the past year that has focussed on sonographic screening for fetal abnormalities.
Recent findings: The evolving nature of screening for fetal aneuploidy has continued to feature strongly in recent literature. There is growing interest in early detailed ultrasound of fetal anatomy at the time of nuchal translucency thickness assessment. Demonstration of tricuspid regurgitation and ductus venosus assessment have been shown to be beneficial additional second-line tests for aneuploidy screening in high-risk patients. Frontomaxillary facial angle assessment has been explored as a new marker for aneuploidy. The limitations of first-trimester nasal bone measurement were reiterated while its measurement has been shown to be beneficial in the second trimester, especially when calculated with multiples of the median. As regards second-trimester screening, studies have explored the effectiveness of congenital heart-defect screening and the efficiency of the genetic sonogram for trisomy 21. The role of nuchal translucency discordance in monochorionic twins has also been readdressed.
Summary: Screening for fetal abnormalities continues to evolve with the introduction of novel techniques and the further refinement of previously proposed screening tools. How these modalities are implemented into routine clinical practice remains to be seen.