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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort
Benjamin Birene1, Jean-Paul Bory1, Eloi Dondeyne1
1Obstetrics and Gynecology Department, Centre Hospitalier Universitaire de Reims, Reims, France.
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.
