介入性产前诊断在中孕期产前筛查临界风险中的临床价值  

Clinical value of invasive prenatal diagnosis for critical risk of prenatal screening during the second trimester of pregnancy

作　　者：付华钰[1] 杜娟[1] 李娇[1] 许涓涓[1] 李萌[1] 黄萍丽[1] FU Hua-Yu;DU Juan;LI Jiao(Outpatient of Eugenics and Genetics,Xinyang Branch of Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530003,China)

机构地区：[1]广西壮族自治区妇幼保健院新阳院区优生遗传门诊,广西南宁530003

出　　处：《中国妇幼保健》2020年第13期2467-2469,共3页Maternal and Child Health Care of China

基　　金：广西壮族自治区科技厅科研项目(桂科AD17129016)。

摘　　要：目的探讨介入性产前诊断在中孕期产前筛查临界风险中的临床价值,为临床诊治提供参考依据。方法549例产前筛查临界风险的孕妇进行介入性产前诊断,通过对羊水或脐血细胞进行培养和DNA提取,分析染色体核型和单核苷酸微阵列(SNParray)芯片结果。结果549例孕妇中检出异常核型(不含多态)12例,占2.18%(12/549),包含性染色体嵌合4例、非整倍体5例、平衡易位1例和倒位2例。239例SNParray芯片检测,检出染色体拷贝数变异(CNV)17例,占所有病例的3.10%(17/549),检出率为7.11%(17/239);包括4例非整倍体异常、2例致病性CNV、11例临床意义不明CNV。结论中孕期产前筛查临界风险且胎儿超声无明显异常时,不建议常规进行介入性产前诊断。Objective To explore the clinical value of invasive prenatal diagnosis for critical risk of prenatal screening during the second trimester of pregnancy,provide a reference basis for clinical diagnosis and treatment.Methods A total of 549 pregnant women with critical risk of prenatal screening underwent invasive prenatal diagnosis,amniotic fluid or umbilical cord blood cells were cultured,DNA was extracted to analyze chromosome karyotypes and single nucleotide polymorphism microarray(SNParray)results.Results Among 549 pregnant women,12 cases with abnormal karyotypes(excluding polymorphism)were detected,accounting for 2.18%(12/549),including four cases with sex chromosome chimerism,five cases with aneuploidy,one case with balanced translocation,and two cases with inversion.A total of 239 cases underwent SNParray detection,17 cases with copy number variant(CNV)were detected,accounting for 3.10%(17/549),the detection rate was 7.11%(17/239),including four cases with aneuploidy,two cases with pathogenic CNV,and eleven cases with CNV of unknown clinical significance.Conclusion Invasive prenatal diagnosis is not recommended when pregnant women have critical risk of prenatal screening during the second trimester of pregnancy without significant abnormalities of fetal ultrasonography.

关 键 词：介入性产前诊断 中孕期 产前筛查临界风险 染色体异常 

分 类 号：R714[医药卫生—妇产科学]