Objective To explore the significance of fetal nuchal translucency(NT)thickening.Methods Clinical data of 143 fetuses and their pregnant mothers with NT value ≥2.5 mm detected by ultrasound at The First People's Hospital of Foshan from January 2019 to October 2020 were retrospectively analyzed.All pregnant women were singleton pregnancies.NT was measured at 11-13+6th gestational weeks.Interventional prenatal diagnosis was performed to extract villi or amniotic fluid for chromosome karyotyping and array-based comparative genomic hybridization(aCGH).The age of pregnant women,NT values,ultrasonic results,the number of fetuses with chromosome abnormalities detected by karyotyping and aCGH,and the proportion of fetuses with chromosome abnormalities detected by G-banding analysis and aCGH in each interval of NT value.Results There were 20(14.0％)pregnant women aged ≥35 years old.The NT value was(3.78±1.49)mm(range,2.50-8.00 mm).Among the fetuses,129 were simple NT thickening,5 with nasal bone loss,4 with choroid plexus cyst,1 with lymphatic sac tumor,1 with anasarca,1 with multiple deformities,1 with scoliosis and 1 with severe gastroschisis.Chromosome abnormalities were found in 20(14.0％)fetuses by chromosoma1 karyotyping,including 12(8.4％)cases of aneuploidy(11 cases of 21-trisomy syndrome and 1 case of 18-trisomy syndrome)and 8(5.6％)cases of other pathogenic chromosomal abnormalities(3 cases of mosaicism,2 cases of imbalanced chromosome translocation,2 cases of balanced chromosome translocation,and 1 case of chromosome inversion).Chromosome abnormalities were found in 19(13.3％)fetuses by aCGH,including 12(8.4％)cases of aneuploidy(11 cases of 21-trisomy syndrome and 1 case of 18-trisomy syndrome)and 7(4.9％)cases of microdeletion and microrepetition.There were significant differences in the proportion of fetuses with chromosome abnormalities between groups of different NT value intervals(2.5 mm ≤NT＜3.0 mm group,3.0 mm ≤NT＜3.5 mm group,3.5 mm ≤NT＜4.0 mm group and NT≥4.00 mm group,P＜0.05),and the incidence of chromosomal abnormalities increased with the increase of NT value.Conclusion Fetal NT thickening is closely related to chromosome aneuploidy,microdeletion and microduplication.The incidence of chromosomal abnormalities increases as the NT value increases.
维普
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