212例既往胎儿结构异常患者再次妊娠产前诊断结果分析

Analysis of prenatal diagnosis results of 212 pregnant women with history of fetal anomalies

目的探讨胎儿结构异常史与再次妊娠产前诊断结果的关系。方法回顾性分析2015年1月至2019年12月因胎儿结构异常史在广东省妇幼保健院产前诊断中心行介入性产前诊断的212例孕妇产前诊断结果,分别根据既往胎儿产前诊断情况及既往胎儿结构异常次数分组,计算各组产前诊断结果异常的检出率。结果212例孕妇行介入性产前诊断,检出异常结果21例。根据既往异常胎儿产前诊断情况,将此次妊娠产前诊断结果细分为既往胎儿染色体/基因异常组、既往胎儿染色体/基因正常组、既往胎儿异常原因未查组3组,3组产前诊断结果异常率分别为11.9%、0%、8.9%,3组之间无统计学差异;另根据既往胎儿结构异常次数细分为1次及多次胎儿异常史组,产前诊断结果异常率分别为5.6%、43.8%,差异有统计学意义(P<0.05)。结论胎儿结构异常不良孕产史的孕妇,需综合评估是否有染色体异常的高危因素来指导其行产前诊断;而针对多次相同类型胎儿异常的情况,则需行基因测序检测。

Objective To investigate the correlation between history of fetal anomalies and prenatal diagnosis results of next pregnancy.Methods A retrospective analysis was performed on the prenatal diagnosis results of 212 pregnant women who had taken interventional prenatal diagnosis at the prenatal diagnosis center of our hospital due to history of fetal structural abnormalities from January 2015 to December 2019.According to the previous prenatal diagnosis status and the number of previous fetal structural abnormalities,the abnormality rate of prenatal diagnosis in each group was calculated.Results 212 pregnant women received interventional prenatal diagnosis and 21 abnormal results.According to the prenatal diagnosis results of previous abnormal fetuses,the prenatal diagnosis results of this pregnancy were divided into three groups:the group with abnormal chromosomes/genes,the group with normal chromosomes/genes,and the group with unknown reasons.The rate of abnormal prenatal diagnosis results in the three groups was 11.9%,0%,and 8.9%,respectively.But there was no significant difference between them.In addition,according to the times of previous fetal structural abnormalities,the abnormal rates of prenatal diagnosis were 5.6%and 43.8%(7/16),respectively.The difference was statistically significant.Conclusion A comprehensive assessment of risk factors for chromosomal abnormalities was needed to guide prenatal diagnosis for pregnant women with a history of fetal structural abnormalities.In the cases of 2 times or more of fetal abnormalities of the same type,gene sequencing is required.