血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用

Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性。方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察。②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18～32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析。结果:A组的18三体筛查高风险孕妇有2例出现B超检查结构异常而放弃妊娠,1例产后检查新生儿先天性心脏病。B组发现18三体3例,13三体3例,其他染色体异常7例,异常发现率23.21%(13/56);其中2例18三体合并有血清学筛查高风险。C组发现胎儿异常4例,其中2例确诊为18三体,异常发现率2.99%(4/134)。结论:孕妇血清生化指标筛查结合胎儿超声检查是产前检出18、13三体综合征胎儿的有效检查方法。

Objective：To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome.Methods：① 78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up（Group A） . ② 56 pregnant women with abnormal fetal ultrasound findings（Group B） and,134 pregnant women with high risk of edwards syndrome/patau syndrome by prenatal serological screening（Group C） were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks.Results：In high risk of 18 trisomy by serological screening,2 cases with abnormal ultrasound findings terminated the pregnancy,1 newborn had congenital heart disease after birth in group A. In group B,3 cases were with 18 trisomy,3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21%（13/56） 。Among them,2 cases with 18 trisomy complicated with high risk of serological screening. In group C,4 cases were with fetal abnormality,among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was 2.99%（4/134） .Conclusions：It is an effective method to detect 18,13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.