安徽省淮北地区883例产前胎儿羊水染色体核型分析  

Analysis of chromosomal karyotypes of amniotic fluid from 883 prenatal fetuses in Huaibei Region,Anhui Province

作　　者：陈琼琼 陈娟玉 马鸿雁[1] 李梅[2] 晋兴林 Chen Qiongqiong;Chen Juanyu;Ma Hongyan;Li Mei;Jin Xinglin(Department of Laboratory Medicine,Huaibei Maternal and Child Health Care Hospital,Huaibei235000,Anhui Province,China;Department of Pregnancy Examination,Huaibei Maternal and Child Health Care Hospital,Huaibei235000,Anhui Province,China;Department of Obstetrics,Huaibei Maternal and Child Health Care Hospital,Huaibei235000,Anhui Province,China)

机构地区：[1]淮北市妇幼保健院检验科,淮北235000 [2]淮北市妇幼保健院孕检科,淮北235000 [3]淮北市妇幼保健院产科,淮北235000

出　　处：《中国基层医药》2024年第12期1805-1809,共5页Chinese Journal of Primary Medicine and Pharmacy

基　　金：安徽省卫生健康科研项目(AHWJ2022c047)。

摘　　要：目的了解淮北地区产前胎儿的羊水细胞染色体核型异常情况, 分析染色体异常核型在不同产前诊断指征组的检出情况。方法本研究为回顾性分析。选取2018年1月至2022年12月在淮北市妇幼保健院产前诊断中心就诊的孕妇883例为研究对象, 孕妇均有产前诊断指征, 在超声引导下进行无菌羊膜腔穿刺术, 抽取羊水后进行羊水细胞双线培养与染色体核型分析。结果羊水标本培养成功率为99.55%(879/883);异常核型检出率为9.22%(81/879), 数目异常占比76.54%(62/81), 结构异常占比17.28%(14/81), 嵌合体占比6.17%(5/81)。产前诊断指征分组及各组异常核型检出情况如下:唐氏综合征产前筛选检查(唐氏筛查)高风险组为2.56%(8/313), 非侵入式产前基因检测(NIPT)高风险组为36.57%(49/134), B超提示异常组为4.23%(9/213), 高龄(≥ 35岁)组为6.90%(10/145), 孕妇或其配偶染色体异常组为25.00%(4/16), 不良孕产史组为1.72%(1/58)。结论产前诊断对检出产前胎儿染色体异常意义重大, 淮北地区检出产前胎儿染色体异常类型中数目异常比例最高, 不同产前诊断指征组的检出率不同, 其中NIPT敏感性最好。ObjectiveTo investigate the prevalence of abnormal chromosomal karyotype in amniotic fluid cells from penatal fetuses in the Huaibei Region and to analyze the detection rates of abnormal chromosomal karyotype across different populations based on indications for prenatal diagnosis.MethodsThis study is a retrospective analysis.A total of 883 pregnant women who visited the Prenatal Diagnosis Center at Huaibei Maternal and Child Health Care Hospital between January 2018 and December 2022 were included in this study.All participants had indications for prenatal diagnosis and underwent sterile amniocentesis under ultrasound guidance.Amniotic fluid was collected for dual culture of amniotic fluid cells and chromosomal karyotype analysis.ResultsThe success rate of amniotic fluid specimen culture was 99.55%(879/883).The detection rate of abnormal karyotypes was 9.22%(81/879),with numerical abnormalities accounting for 76.54%(62/81),structural abnormalities for 17.28%(14/81),and chimerism for 6.17%(5/81).The detection rates of abnormal karyotypes based on various prenatal diagnostic indications are summarized below:2.56%(8/313)in the high-risk group for Down syndrome screening,36.57%(49/134)in the high-risk group for non-invasive prenatal testing,4.23%(9/213)in the group with abnormal B-ultrasound findings,6.90%(10/145)in the advanced age group(≥35 years),25.00%(4/16)in the group with chromosomal abnormalities in either the mother or her partner,and 1.72%(1/58)in the group with adverse pregnancy outcomes.ConclusionPrenatal diagnosis is of great significance for detecting chromosomal abnormalities in fetuses.In the Huaibei Region,numerical abnormalities account for the highest proportion of detected prenatal fetal chromosomal abnormalities.The detection rates vary among different prenatal diagnostic indication groups,with non-invasive prenatal testing demonstrating the highest sensitivity.

关 键 词：产前诊断 羊膜腔穿刺术 羊水 染色体 唐氏综合征 基因检测 

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