摘要
患者39岁,孕3产3。孕第三胎时,于外院建册。平素月经规律,孕早期未按时产检。孕22周三维彩超显示左、右心室内均可见点状强回声,三尖瓣少量反流。建议进一步完善介入性产前诊断,孕妇未遵嘱。孕36+3周入院后顺产一男婴,新生儿外周血核型检查为47,XY,inv(20)(p13q13.1),+21,符合21-三体综合征核型。同时,进行21-三体综合征产前筛查讨论,明确临床应重视产前筛查及相关教育,减少或预防出生缺陷。
The patient was 39 years old and had a third pregnancy.When with the third child,she established the register in the other hospital.Normal menstruation is regular,but the birth checkup is not performed on time in the first trimester.Three-dimensional color Doppler ultrasound at 22 weeks of gestation showed strong point echoes in both the left and right ventricles and a small amount of tricuspid regurgitation.It is recommend-ed to have further interventional prenatal diagnosis,but the pregnant woman did not follow the instructions.After 36+3 weeks of gestation,she had a natural birth with a baby boy.The neonatal peripheral blood karyotype was 47,XY,inv(20)(p13q13.1),+21,which was in consistent with trisomy 21 syndrome karyotype.Therefore,the discussion of trisomy 21 syndrome prenatal screening was conducted.Clinicians should pay attention to pre-natal screening and related education to reduce or prevent birth defects.
作者
叶梅
戴勇
冼洁怡
汤冬娥
YE Mei;DAI Yong;XIAN Jieyi;TANG Donge(Clinical Medical Research Center,Shenzhen People's Hospital/the Second Clinical Medical College of Jinan University/The First Affiliated Hospital of South University of Science and Technology,Guangdong Engineering Research Center of Autoimmune Diseases,Shenzhen,Guangdong,518020,China;Department of Obstetrics,Baoan District Maternal and Child Health Hospital/Shenzhen Baoan Maternal and Child Health Hospital affiliated to Jinan University,Shenzhen,Guangdong,518133,China)
出处
《当代医学》
2023年第4期130-132,共3页
Contemporary Medicine
基金
广东省科技计划(2017B020209001)。
关键词
21-三体综合征
孕早、中期
产前诊断
Trisomy 21 syndrome
Early and middle pregnancy
Prenatal diagnosis
