05Feb 2025
Nuchal Translucency Measurement Ineffective in Detecting Missed Genetic Abnormalities

Nuchal Translucency Measurement Ineffective in Detecting Missed Genetic Abnormalities

A 4-year retrospective study of 919 pregnancies undergoing gwNIPT and invasive prenatal testing revealed that nuchal translucency (NT) measurement is a poor predictor for genetic abnormalities missed by gwNIPT. Among 338 pregnancies with a genetic abnormality, 9 false-negative gwNIPT results and 26 undetectable abnormalities (including microdeletions, microduplications, and triploidy) were noted. When various NT threshold values were applied, detection rates remained low, with a fixed NT cut-off of 3.5 mm providing the highest positive predictive value.

  • #gynaecology - ivf

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