摘要
Abstract
Objective To investigate the changes in prenatal ultrasound indexes in fetal sex chromo-some aneuploidy(SCA)during the second trimester of pregnancy.Methods A total of 88 cases diagnosed with SCA by amniotic fluid puncture karyotype analysis during the second trimester of pregnancy from Janu-ary 2018 to May 2023 were collected.All the included cases underwent grade Ⅱ or Ⅲ prenatal ultrasound ex-amination,and the SCA results of all cases were confirmed by chromosomal microarray technology,excluding other copy number variations above 100 kb.The changes of prenatal ultrasound examination indexes when the fetus has SCA were analyzed.Results Among the 88 cases diagnosed with SCA,33 cases were 47,XXY(32 cases of standard type+one cases of chimera),21 cases were 47,XYY,18 cases were 47,XXX(15 cases of standard type+three cases of chimera),13 cases were 45,X(four cases of standard type+nine cases of chi-mera),two cases were 48,XXYY,one case were 48,XXXY.In 68 cases,there were no abnormal indexes in grade Ⅱ or Ⅲ prenatal ultrasound examination from 18 to 25 weeks of pregnancy,accounting for 77.3％(68/88).In 20 cases,there were cardiac strong echo,choroid plexus cyst,single umbilical artery,lateral ventricle widening,nasal bone loss,ventricular septal defect,and cleft palate.Among the cases with abnormal ultra-sound indexes in the second trimester of pregnancy,the detection rate of 45,X was the highest[53.8％(7/13)],47,XXX was 11.1％(2/18),and 47,XXY was 15.2％(5/33),but the indicators lacked significant speci-ficity.Conclusion 47,XXY is the most common SCA in the second trimester of pregnancy,followed by 47,XYY and 47,XXX.Most of the fetal SCA in the second trimester of pregnancy do not show abnormal ultra-sound indexes except 45,X,while the neck hygroma is common in the first trimester of the fetus with 45,X,and the soft ultrasound indexes are abnormal in the second trimester.Ultrasound examination has certain sig-nificance for the detection of 45,X.关键词
胎儿性染色体非整倍体/超声指标/胎儿/孕中期Key words
Fetal sex chromosome aneuploidy/Ultrasound index/Second trimester分类
医药卫生
