329例唐筛高风险孕妇羊水穿刺结果及妊娠结局

Amniocentesis and pregnancy outcome of 329 high risk pregnant women with Down′s syndrome

目的分析329例唐筛高风险(>1/270)孕妇羊水穿刺染色体核型、二代测序NGS结果以及妊娠结局,初步评价血清学检测的效果。方法抽取羊水,进行染色体核型分析、二代测序检测,电话随访妊娠结局。结果329例样本中,染色体三体共6例,占比为1.82%,孕妇终止妊娠。多态性核型21例,占比为6.38%,其中1例先天性肛门闭锁,余未见出生缺陷。除外三体,NGS检测到染色体拷贝数变异CNVs 16例(15例重复,1例缺失),占比为4.86%。缺失的1例接受建议,验证双亲,为母亲来源,孕妇继续妊娠。16例均未见出生缺陷。结论作为减少出生缺陷的常规手段之一,孕中期血清学检测对减少出生缺陷有一定的意义。但是,假阳性率高,产前诊断检出率低。

Objective:To evaluate the efficiency of serum screening,329 singleton pregnancies who were Down syndrome screen positive(>1/270)accepted prenatal diagnose.Methods:Amniotic fluid was extracted,karyotype analysis and next generation sequencing(NGS)were performed.Pregnancy outcomes were followed up by telephone.Results:Among 329 cases,6 cases were trisomy,accounting for 1.82%and the pregnant women choosed to terminate pregnancy There were 21 cases of polymorphic karyotype,accounting for 6.38%.Among them,1 case was congenital anal atresia,and the rest had no birth defects.Except trisomy,16 cases of copy number variations(CNVs)were detected in NGS,accounting for 4.86%.Parental verification was suggested and accepted by the microdeletion case and the result demonstrated that it inherited from mother.The pregnant woman continued to pregnancy.No birth defects were found in 16 cases.Conclusion:As one of the conventional means to reduce birth defects,serum screening in the second trimester of pregnancy has certain significance in reducing birth defects.However,the false positive rate is high and the detection rate of prenatal diagnosis is low.