羊水染色体核型分析降低出生缺陷的研究  

Study on reduction of birth defects by analysis of amniotic fluid karyotype

作　　者：宋静岚 于俊娜[1] 田敬茹 李伟[1] 阳剑[1] 李强[1] SONG Jing-lan;YU Jun-na;TIAN Jing-ru;LI Wei;YANG Jian;LI Qiang(Department of Medical Genetics, the Maternal and Child Health Care Hospital of Baoding City, Hebei Province, Baoding 071000, China)

机构地区：[1]河北省保定市妇幼保健院医学遗传科,河北保定071000

出　　处：《河北医科大学学报》2022年第2期173-176,217,共5页Journal of Hebei Medical University

基　　金：保定市科技计划项目(1951ZF087)。

摘　　要：目的探讨羊水染色体异常核型类型、分布及不同产前诊断指征的异常核型检出情况。方法选取在保定市妇保健院具有产前诊断指征的孕妇1305例,进行羊膜腔穿刺术及羊水染色体核型分析。结果1305例羊水标本共检出异常核型92例,检出率为7.05%,包括数目异常68例(73.91%)和结构异常24例(26.09%);异常核型以21-三体最常见(48.91%),其次是性染色体数目异常(23.91%)。在单项指征中,检出率最高为无创产前筛查(non-invasive prenatal testing,NIPT)高风险(50.00%),其次是夫妇一方染色体异常(38.46%);高龄合并NIPT高风险组异常检出率显著高于单纯高龄(P<0.001)。结论孕中期对有产前诊断指征的孕妇进行羊水染色体核型分析,有助于发现胎儿染色体异常核型,降低出生缺陷发生率。NIPT对筛查胎儿染色体异常准确率较高,临床上可以考虑高龄孕妇首选NIPT筛查策略。Objective To explore the types and distribution of abnormal karyotypes of amniotic fluid chromosomes,and detection rate of abnormal karyotypes with different prenatal diagnostic indications.Methods A total of 1305 pregnant women with the prenatal diagnostic indications were selected for amniocentesis and analysis of amniotic fluid karyotype in the Maternal and Child Health Care Hospital of Baoding City.Results In 1305 amniotic fluid samples,92 abnormal karyotypes were detected,with the detection rate of 7.05%.Among them,68 cases(73.91%)had abnormal number of chromosomes,and 24(26.09%)had structural abnormalities.The most common abnormal karyotypes were 21 trisomy(48.91%),followed by abnormal number of sex chromosome(23.91%).Among the single indications,the detection rate was the highest in high risk of non-invasive prenatal testing(NIPT)(50.00%),followed by chromosomal abnormalities in one spouse(38.46%).The group with advanced age combined with high risk of NIPT had a higher detection rate than that with only advanced age(P<0.001).Conclusion The karyotype analysis of amniotic fluid cells in pregnant women with different prenatal diagnosis indications in the second trimester could help to find the abnormal karyotype of the fetus and reduce the incidence of fetal birth defects.NIPT has a higher accuracy in screening fetal chromosome abnormalities.NIPT screening strategy should be considered as the first choice for advanced maternal age.

关 键 词：羊水 染色体 核型分析 出生缺陷 

分 类 号：R321.4[医药卫生—人体解剖和组织胚胎学]