Invasive genetic testing for isolated increased nuchal translucency of 3.0–3.4 mm: Results from cohort analysis with 604 fetuses.

This article discusses the results of a cohort analysis on invasive genetic testing for fetuses with isolated increased nuchal translucency (NT) measurements of 3.0-3.4 mm. The study included 604 cases and found that 8.4% of the fetuses had clinically significant copy-number variant (CNV) results, with trisomy 21 being the most common finding. The study suggests that isolated NT measurements in this range are associated with an increased risk of chromosomal anomalies and potentially monogenic disorders. The findings have implications for parental counseling and the option of invasive genetic investigations. [Extracted from the article]