Prenatal Diagnosis and Follow-up Results of CMA in Fetuses with Nuchal Transparency Thickening Combined with or without Structural Malforma-tions

LI Qian; TIAN Yanan; LI Qiang; YU Peng; XU Shanshan; WANG Li

doi:10.3969/j.issn.1002-3429.2024.07.014

Abstract：Objective To analyze the prenatal diagnosis and follow-up results of chromosome microarray analysis(CMA)of fetuses with or without nuchal transparency(NT)thickening.Methods The clinical data of 106 pregnant women who was diagnosed with NT thickening and received interventional diagnosis from January 2019 to January 2023 were retrospec-tively analyzed.The prenatal diagnosis results of CMA with different NT thickness and the status quo of structural malforma-tions were compared,and the prenatal diagnosis results of CMA were divided into structural malformation group and non-struc-tural malformation group according to combination of structural malformations.Prenatal diagnosis results were recorded,and pregnancy outcomes and condition of neonates were followed up.Results Chromosome abnormality and structural deformity were detected in 21(19.81%)and 23(21.70%)of 106 fetuses with NT thickening respectively.There was no significant difference in the detection rate of CMA in fetuses with different NT thickness(P＞0.05),while significant difference was found in the detection rate of structural malformation in fetuses with different NT thickness(P＜0.01).The detection rate of CMA abnormality in fetuses with NT thickening and structural malformation(65.22%,15/23)was higher than that of fetuses without structural malformations(7.23%,6/83)(P＜0.01).A total of 98(92.45%)pregnant women completed the fol-low-up of pregnancy outcomes.The induction rate(52.17%,12/23),pediatric hospitalization rate(100.00%,8/8),still-birth rate(13.04%,3/23)and preterm birth rate(75.00%,6/8)of the fetus with NT thickening and structural malforma-tion were higher than those of the fetus without structural malformation[(4.00%(3/75),30.56%(22/72),0,2.78%(2/72),respectively).The live birth rate(34.78%,8/23)was lower than that of fetuses without structural malformations(96.00%,72/75)(P＜0.01).Conclusion The detection rate of chromosome abnormality and the risk of adverse preg-nancy outcome are increased in fetuses with NT thickening and structural malformation.It is recommended to perform CMA in the meantime,which is conducive to the detection of chromosomal numerical abnormality,microdeletion,and micro-duplica-tion,thus providing relevant basis for clinical genetic counseling and treatment.