Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes

Question  Is there an association between nuchal translucency measurements less than 3.5 mm and chromosomal anomalies?

Findings  In this population-based cohort study including 414 268 singleton pregnancies in Ontario, Canada, a significantly increased risk of chromosomal anomalies was associated with each increasing level of nuchal translucency measurement, compared with a reference group of pregnancies with nuchal translucencies less than 2.0 mm.

Meaning  The findings of this cohort study suggest that pregnancies with nuchal translucency measurements greater than 2.0 mm are at increased risk of chromosomal anomalies, indicating that the widely used threshold of 3.5 mm may need to be reexamined.

JAMA 7(3):e243689 doi:10.1001/jamanetworkopen.2024.3689.