Cohort of increased nuchal translucency in the first trimester without pathogenic variant on chromosomal microarray analysis: Outcomes for fetuses, neonates, and at the age of 2
Year: 2026
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Increased nuchal translucency (NT) in the first trimester is often linked to chromosomal anomalies and fetal malformations. OBJECTIVE: To assess fetal, neonatal, and two-year developmental outcomes in fetuses with NT ≥ 3.5 mm and normal chromosomal microarray analysis (CMA). METHODS: This single-centre retrospective study included all singleton pregnancies between 2015 and 2021 with NT ≥ 3.5 mm at first-trimester ultrasound and no pathogenic CMA variant. Data on psychomotor development at 2 years were collected. RESULTS: Among 131 pregnancies, there were 41 perinatal deaths (31%): 9 fetal deaths, 27 medically indicated terminations of pregnancies, and 5 neonatal deaths. Of the 90 children surviving beyond 28 weeks, 77 (85.6%) had no malformation, while 13 (14.4%) presented one or more anomalies. Perinatal death was significantly associated with NT > 6 mm (P < 0.001), malformation detected on first- or second-trimester ultrasound (P < 0.01), and persistent NT at 22 weeks (P < 0.001). At 2 years, 5 of the 90 children (5.5%) showed neurodevelopmental delay. CONCLUSION: In the absence of a pathogenic CMA variant, an isolated, moderately increased NT that regresses in the second trimester is generally associated with favorable outcomes, offering reassuring information for prenatal counseling.
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,440
OpenAlex ID: W7128802839