This study by Zalel et al. (Prenatal Diagnosis, 2017) analyzed whether there was benefit to the use of detailed early fetal anatomy scans before karyotyping in patients with an increased nuchal translucency (NT).
Prospective Cohort Study
43 fetuses with NT >99th centile were surveyed. Before karyotyping, detailed fetal anatomy scans were performed. Sonographic findings were then analyzed to see if they could be used to predict fetal aneuploidy. The mean NT was 4.5mm at a gestational age of ~12 weeks. In 30 of the fetuses (69.8%) the scan uncovered significant anomalies. 24 underwent karyotyping and in 14 chromosomal abnormalities were found. Of the 13 fetuses whose scans were negative, one had aneuploidy. These results yield a PPV of 58.3% for the use of detailed scans in diagnosing aneuploidy after detection of increased NT and that ultrasound was an independent risk factor for aneuploidy, apart from NT.
The added value of detailed early anomaly scan in fetuses with increased nuchal translucency
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