不同指征介入性细胞遗传学诊断探讨

目的:探讨不同指征介入性(羊膜腔穿刺术)获得胎儿细胞、培养分析染色体异常核型及其检出率,预防缺陷患儿的出生。方法:回顾性分析宁波地区4905例孕妇的介入性手术指征、不同指征的异常染色体核型及发生率。结果:4905例介入性产前诊断中,手术指征分别为:血清学筛查高风险、孕妇高龄(年龄≧35岁)、超声胎儿结构异常、不良妊娠史和夫妇一方染色体结构异常携带者。共检出异常核型252例,检出率为5.14%。异常核型有:三体型87例;特纳氏14例;部分单体或三体6例;三倍体4例;平衡易位28例;环状染色体1例;倒位和染色体多态性分别有69例和36例;其它嵌合型7例。结论:不同指征高危孕妇应采用介入性细胞遗传学诊断胎儿染色体,有效控制出生缺陷的发生率。

Research on invasive cytogenetic diagnosis in pregnant women with different indications

Objective:To explore invasive cytogenetic diagnosis(amniocentesis) in pregnant women with different indications to obtain fetal cells,analyze chromosome abnormalities and its detection rate,so as to prevent the birth of baby with deficiency.Methods: Retrospective analysis was conducted on 4905 women in Ningbo,who had underwent invasive prenatal diagnosis,invasive indications and abnormal chromosome karyotype as well as its incidence were analyzed.Results: The indications for invasive pregnant diagnosis in these 4905 women were:increased risk at prenatal screening,advanced maternal age(≧35),abnormal foundings through ultrasonograph,history of adverse pregnancy and chromosomal balance translocation carriers in either one of the couple.252 cases were found to be chromosomal abnormalities with the detection rate of 5.14%.The abnormal karyotypes were 87 cases of trisomy,14 cases of Turner′s,6 cases of partial monomer or trisomy,4 cases of triploid,28 cases of balanced translocation,1 case of ring chromosome,69 cases of inversion,36 cases of chromosome polymorphism and 7 cases of other mosaictypes.Conclusion: High-risk pregnant women of different indications should be involved in invasive cytogenetic diagnosis of fetal chromosomes,effectively controlling the incidence of birth defects.