分析不同产前诊断指征与染色体异常核型的关系及产前诊断指征对于妊娠结局的指导意义  

Relationship Analysis Between Different Prenatal Diagnosis Indications and Chromosome Abnormal Karyotypes and Significance of Prenatal Diagnosis Indications for Pregnancy Outcome

作　　者：魏顺娣[1] 谢润桂[1] 何晓旋 WEI Shun-di;XIE Rong-gui;HE Xiao-xuan(Dongguan City Maternal and Child Health Care Hospital,Dongguan,Guangdong,523002)

机构地区：[1]广东省东莞市妇幼保健院,广东东莞523002

出　　处：《智慧健康》2021年第15期4-6,9,共4页Smart Healthcare

摘　　要：目的分析产妇产前接受诊断后产前诊断指征以及同染色体异常核型关系对于产妇妊娠结局的影响。方法选择广东省东莞市妇幼保健院2019年1月1日至2019年12月31日收治的1851例产妇进行妊娠结局指导分析,取羊水样本(1726例)、产绒样本(125例),观察染色体异常情况、异常关系、样本检测差异、妊娠结局四项数据。结果①唐氏高危产妇检测过程中染色体异常11例(3.78%);高龄产妇检测过程中染色体异常41例(9.55%),无创高危染色体异常情况102例(48.5%),其他原因染色体异常情况9例(0.9%),染色体平衡异位产妇染色体异常情况17例(3.84%);②羊水样本检测异常情况为170例(9.84%),失败率5例(0.28%);产绒样本检测异常情况为10例(8.00%),失败率0例(0.00%);③唐氏高危产妇数目异常产妇9例,结构异常1例,嵌合体1例;高龄高危产妇数目异常产妇36例,结构异常3例,嵌合体2例,无创高危数目异常产妇91例,结构异常4例,嵌合体7例;其他原因产妇数目异常产妇7例,结构异常2例,嵌合体2例;染色体平衡异位数目异常产妇0例,结构异常4例,嵌合体0例;④染色体数目异常产妇163例均选择终止妊娠,染色体结构异常中12例产妇选择继续妊娠,主要因为父亲染色体异常;染色体嵌合体7例均选择终止妊娠。5例继续妊娠产妇足月生产,经过追踪调查,胎儿未见发育异常。结论染色体异常分析与产前指征具有密切关系。如果胎儿经过筛查后确定为染色体异常后,应该听取医生的临床诊治意见,及时终止不良妊娠,实现优生优育。Objective to analyze effect of prenatal diagnosis indication and karyotype relationship with chromosome abnormality on outcome of pregnant women.Methods The paper chose 1851 cases pregnant women in our hospital from January 1,2019 to December 31,2019 for guidance analysis of pregnancy outcome.Amniotic fluid samples(1726 cases),cashmere samples(125 cases)were taken to observe 4 data of chromosome abnormality,abnormal relationship,sample detection difference and pregnancy outcome.Results①11 cases(3.78%)of chromosome abnormality were detected during process of Down’s high risk maternal testing;41 cases(9.55%)of abnormal chromosome,102 cases(48.5%)of non-invasive high risk chromosome abnormality,9 cases(0.9%)and 17(3.84%)of abnormal chromosome in heterotopic maternal with chromosome balance;②Abnormal condition of amniotic fluid samples was 170(9.84%),with failure rate of 5(0.28%);abnormal condition of cashmere production samples was 10(8.00%),with failure rate of 0(0.00%);③There were 9 cases abnormal pregnant women with Down’s high risk parturients,1 case of abnormal structure,1 case of chimera;36 cases of abnormal high-risk elderly high risk pregnant women,3 cases were abnormal structure,2 cases were chimera,91 cases were non-invasive high-risk pregnant women,4 cases were abnormal structure and 7 cases were chimera;there were 7 cases abnormal pregnant women for other reasons,including 2 cases abnormal structure and 2 cases chimera;there was 0 case abnormal number of heterotopic,4 cases abnormal structure and 0 case chimera;④163 cases pregnant women with abnormal chromosome number chose to terminate pregnancy,12 of them chose to continue pregnancy,mainly because of abnormal chromosome of father;all 7 cases of chromosome chimera chose to terminate pregnancy.5 were born full-term.After tracking investigation,no abnormal development was found in the fetus.Conclusion Chromosome abnormality analysis is closely related to prenatal indications.If the fetus is identified as chromosomal abnormality after screening

关 键 词：妊娠结局 染色体异常 产前诊断指征 染色体异常核型 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]