Abstract

OBJECTIVE

To describe diagnostic trajectories and parental decision-making following increased first-trimester nuchal translucency (NT), according to NT thickness.

METHOD

This 12-year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first-trimester NT ≥ 3.5 mm, with or without structural anomalies.

RESULTS

Termination of pregnancy occurred in 180/316 pregnancies (57.0%), while 91/316 (28.8%) resulted in live birth without pathology. TOP without prior invasive prenatal testing increased from 7.4% in the 3.5-< 5.0 mm group to 35.0% in the ≥ 6.5 mm group. Invasive prenatal testing was performed in 248 pregnancies. Among 137 pregnancies with an abnormal genetic result and known outcome, 12 (8.8%) were continued. Structural ultrasound assessment was performed in 111 pregnancies; 17/29 (58.6%) with abnormal findings were continued. Among 51 pregnancies that continued after normal genetic testing and normal structural ultrasound, 42 (82.4%) resulted in live birth without pathology at the last follow-up, including 3/8 (37.5%) with NT ≥ 6.5 mm.

CONCLUSION

Parental decisions and outcomes varied with NT thickness. Integrating NT measurements with sequential genetic and ultrasound findings may support individualized prenatal counseling.

MeSH

Research Design, Pregnancy, Pregnancy Trimester, First, Prenatal Diagnosis, Psychology, Parturition, Nuchal Translucency Measurement, Pregnancy Outcome, Pathology, Decision Making, Fetal Diseases, Diagnosis, Live Birth, Chromosome Disorders