1875例孕妇产前遗传学诊断结果与产前诊断指征分析  

Analysis of prenatal genetic diagnosis and indications in 1 875 pregnant women

作　　者：龙喜贵[1] 覃婷[1] 莫伟英[1] 伍欣[1] 张鹏[1] 田矛[1] LONG Xigui;QIN Ting;MO Weiying;WU Xin;ZHANG Peng;TIAN Mao(Center for Prenatal Diagnosis,the People′s Hospital of Guangxi Zhuang Autonomous Region,Naning 530021,China)

机构地区：[1]广西壮族自治区人民医院产前诊断中心,南宁530021

出　　处：《实用医学杂志》2019年第10期1630-1634,共5页The Journal of Practical Medicine

摘　　要：目的探讨不同产前诊断指征在胎儿遗传学诊断中的临床价值。方法 1 875例有产前诊断指征的孕妇在超声引导下,根据孕周分别选择绒毛活检、羊膜腔穿刺或脐静脉穿刺,取材后送检染色体核型分析和全基因组拷贝数变异检测(CNV-seq)。结果共诊断致病性染色体核型及CNV异常179例,总阳性诊断率9.55%(179/1 875),其中单独染色体核型异常率8.48%(159/1 875),单独CNV异常率7.68%(144/1 875)。各指征中无创产前DNA检测(NIPT)高危、心脏异常、颈部透明带(NT)增厚、鼻骨缺失的异常检出率较高,分别为41.57%(37/89)、19.72%(14/71)、26.89%(32/119)及15.38%(6/39)。此外,90例染色体核型多态性的胎儿中,发现2例致病性CNV(2.22%);1 624例染色体核型正常的胎儿中,检出16例致病性CNV(0.99%)。同时,三种取材共检出嵌合16例、常见染色体三体/单体127例,包括6例13-三体、28例18-三体、51例21-三体、12例45,X、6例47,XXX、7例47,XXY及4例47,XYY等,检出率为6.77%。结论侵入性产前诊断通过染色体核型分析联合CNV-seq技术,有效提高了异常诊断率,防止了严重出生缺陷胎儿的出生。Objective To investigate the clinical value of different prenatal diagnostic indications in fetal genetic diagnosis. Methods According to gestational weeks,invasive samplings were carried out for 1 875 pregnant women with high risk indications under ultrasound guidance,including villus biopsy,amniocentesis or umbilical vein sampling,then karyotyping and whole genome copy number variation sequencing(CNV-seq) were performed. Results One hundred and seventy nine cases both karyotype and CNV abnormality were detected in total 1 875 cases. The total abnormal diagnosis rate was 9.55%,among them,the chromosomal and CNV abnormal rate was 8.48%(159/1 875), 7.68%(144/1 875) respectively. The abnormal rate of high risk factors such as NIPT (N on invasive prenatal testing) high risk,cardiac abnormality,increased nuchal translucency and nasal bone loss were higher than others,which was 10.71%( 3/28), 41.57%( 37/89), 19.72%( 14/71), 26.89%( 32/119) and 15.38%(6/39) respectively. In addition,2 cases with pathogenic CNVs(2.22%) were detected in total 90 cases with karyotype polymorphism,and 16 cases with pathogenic CNVs( 0.99%) were detected in total 1 624 case with normal karyotype. Moreover,16 cases with chromosomal mosaicism and 127 trisomy/monomers cases were detect ed,the detection rate was 6.77%,including trisomy 13(n = 6), trisomy 18(n = 28), trisomy 21(n = 51), 45,X(n = 12), 47,XXX(n = 6), 47,XXY(n = 7) and 47,XYY(n = 4). Conclusions Prenatal diagnosis could prevent the birth of abnormal fetuses effectively. Karyotyping combined with CNV seq could enhance the abnormal detection rate effectively in prenatal diagnosis.

关 键 词：染色体 核型分析 二代测序 基因组 拷贝数变异检测 产前诊断 多态性 指标异常 

分 类 号：R714.5[医药卫生—妇产科学]