132例产前诊断21三体胎儿的临床病例分析

Analysis of 132 case of fetuses with trisomy 21 prenatal diagnosis

目的分析产前诊断的21三体胎儿的临床资料,科学指导孕妇采用合理的产前筛查及产前诊断方案。方法抽取2018年4月至2020年3月郑州大学第三附属医院产前诊断中心产前诊断检出的21三体胎儿132例,分析其病史资料、产前筛查情况、产前诊断指征、超声检查和产前诊断结果。结果132例孕妇产前诊断的指征依次为超声异常65例(49.2%,65/132)、无创DNA产前筛查21三体高风险44例(33.3%,44/132)、血清学筛查高风险18例(13.6%,18/132)、高龄3例(2.3%,3/132)及21三体胎儿孕育史2例(1.5%,2/132)。100例孕妇(75.8%,100/132)有胎儿超声异常表现,分别为软指标异常(70%,70/100)、结构异常(20%,20/100)和其他异常(10%,10/100)。软指标异常中最常见的为胎儿颈部透明层增厚(31例),胎儿结构异常中最常见的为心血管结构异常(10例)。48例孕妇行中孕期血清学筛查结果显示,21三体高风险28例(58.3%,28/48),临界风险11例(22.93%,11/48),低风险9例(18.8%,9/48)。结论21三体胎儿的主要高危因素为高龄、产前筛查高风险、超声异常和既往21三体胎儿孕育史,因此做好产前病史采集,合理选择产前筛查方案,综合孕妇各方面情况考虑其风险因素,有助于提高产前诊断率。

Objective To analyze the clinical data of prenatally diagnosed trisomy 21 fetuses,so as to guide prenatal screening and diagnosis.Methods A total of 132 fetuses with trisomy 21 detected by prenatal diagnosis in Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from April 2018 to March 2020 were collected.The medical history,prenatal screening,prenatal diagnosis indications,ultrasonography and prenatal diagnosis results were analyzed.Results The indications for prenatal diagnosis of 132 pregnant women were 65 cases(49.2%,65/132)of abnormal ultrasound,44 cases(33.3%,44/132)of high-risk trisomy 21 screening by non-invasive prenatal testing,18 cases(13.6%,18/132)of high-risk indications in serological screening,3 cases(2.3%,3/132)of advanced age,and 2 cases(1.5%,2/132)of gestational history of trisomy 21.One hundred pregnant women(75.8%,100/132)abnormalities had in fetal ultrasound,including soft index abnormalities(70.0%,70/100),structural abnormalities(20.0%,20/100)and other abnormalities(10.0%,10/100).The most common abnormality of soft index was the thickening of transparent layer of fetal neck(31 cases).The most common fetal structural abnormalities was the cardiovascular structural abnormalities(10 cases).Results of serological screening of 48 pregnant women during mid pregnancy showed 28 cases(58.3%,28/48)with high risk of trisomy 21,11 cases(22.93%,11/48)with critucal risk,9 cases(18.8%,9/48)with low risk.Conclusions The main risk factors for trisomy 21 are advanced age,high risk of prenatal screening,abnormal ultrasound and previous pregnancy history of trisomy 21.Therefore,it is necessary to collect prenatal medical history,choose a reasonable prenatal screening program,and comprehensively consider risk factors of pregnant women,which can help to improve the rate of prenatal diagnosis.