NI Jingxiang,YU Xiaoting,LU Yuanfan, et al. Perinatal outcomes of increased nuchal translucency in fetuses with normal karyotype and copy number[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2024, 54(5): 401-404.
Abstract：Objective: To investigate the perinatal outcomes of fetuses with normal karyotype and copy number with nuchal translucency (NT) ≥3.0 mm, so as to provide a scientific diagnostic strategy for pregnant
women and their families. Methods: From January 1, 2019 to December 30, 2021, 57 pregnant women with
normal karyotype and copy number with increased nuchal translucency were enrolled in the Second Hospital.Color ultrasound examination and postnatal follow-ups were performed at 22, 28, 32, and 36 weeks of gestation.Pregnancy complications, delivery mode, and neonatal outcomes were recorded. Results: A total of 120 cases of NT thickening were detected, of which 92 cases had normal karyotype and copy number, of which 35 cases were lost (38.0%), and 57 cases were followed up. Karyotype and copy number abnormalities were found in 28 cases (23.3%). Among the 57 pregnant women with NT thickening who were followed up with normal karyotype and copy number, the rate of spontaneous abortion was 3.5% and the rate of abnormal structural malformations 12.3%.Cardiac malformation was the most common structural malformation, accounting for 42.9% of the structural malformations. Preeclampsia occurred in 3.6%, insufficient amniotic fluid and fetal growth restriction in 1.8%,gestational diabetes in 14.5%. We stratified the degree of NT thickening and found that when NT >5.0 mm,the proportion of miscarriages (stillbirths) and live births with structural abnormalities increased even though the chromosomes and copy number were normal. Conclusion: With normal karyotype and copy number, NT thickening does not increase pregnancy complications and has a better perinatal outcome. However, when NT
>5.0, the proportion of abortion (stillbirth) and the proportion of live births with structural anomalies increase.During pregnancy, ultrasound (including fetal echocardiography) should be performed to exclude structural malformations, especially cardiac malformations.
