无创产前检测提示Xp22.31微缺失综合征胎儿2例的产前诊断  

Prenatal diagnosis of two fetuses with Xp22.31 microdeletion syndrome indicated by non-invasive prenatal testing

作　　者：王蕊[1] 奚美霞 魏友华 魏莉 朱文娟 刘彦 Wang Rui;Xi Meixia;Wei Youhua;Wei Li;Zhu Wenjuan;Liu Yan(Department of Medical Genetics and Prenatal Screening,Maternity and Child Health Care Hospital of Zaozhuang,Zaozhuang,Shandong 277102,China;Weifang Nursing Vocational College,Weifang,Shandong 262500,China)

机构地区：[1]枣庄市妇幼保健院医学遗传与产前筛查科,枣庄277102 [2]潍坊护理职业学院,潍坊262500

出　　处：《中华医学遗传学杂志》2023年第8期928-932,共5页Chinese Journal of Medical Genetics

基　　金：山东省医药卫生科技发展计划(202105030912);潍坊市科技发展计划(2021GX095)。

摘　　要：目的对2例无创产前检测(NIPT)提示为Xp22.31微缺失综合征的胎儿进行产前诊断,以探讨NIPT对于筛查胎儿染色体微缺失/微重复的价值。方法选取2017年12月5日和2020年10月15日枣庄市妇幼保健院NIPT检测提示为Xp22.31微缺失综合征的2例胎儿作为研究对象。收集孕妇的相关临床资料,采集其外周血样进行NIPT检测。抽取胎儿羊水样本,对胎儿1进行G显带染色体核型分析与拷贝数变异测序(CNV-seq),对胎儿2进行G显带染色体核型分析与单核苷酸多态性微阵列(SNP array)分析。采集孕妇1夫妇的外周血样进行CNV-seq检测,验证胎儿拷贝数变异的来源。结果NIPT检测提示胎儿1染色体Xp22.31区存在1.3 Mb的片段缺失;G显带染色体核型分析未见异常;CNV-seq检测结果为seq[GRCh37]del(X)(p22.31),chrX:g.68000017940000del,提示其Xp22.31区存在1.14 Mb缺失,经验证该变异遗传自母亲。NIPT检测提示胎儿2染色体Xp22.31区存在1.54 Mb片段缺失;G显带染色体核型分析未见异常;SNP array检测结果为arr[GRCh37]Xp22.31(64589408003247)×0,提示胎儿2染色体Xp22.31区存在1.54 Mb片段缺失。结论NIPT除对胎儿21、18及13三体具有优越的检测性能外,对于检测染色体微缺失/微重复也具有潜在的价值。当NIPT提示高风险时,需通过产前诊断以进一步明确胎儿的染色体异常。Objective To assess the value of non-invasive prenatal testing(NIPT)for detecting fetal chromosomal microdeletion/microduplication syndromes by carrying out prenatal diagnoses for two fetuses with Xp22.31 microdeletion indicated by NIPT.Methods Two pregnant women suspected for fetal Xp22.31 microdeletion syndrome who had presented at Zaozhuang Maternal and Child Health Care Hospital respectively on December 5,2017 and October 15,2020 were selected as the study subjects.Clinical data of the two women were collected,and peripheral venous blood samples were collected for NIPT.Amniotic fluid samples were taken for G-banding chromosomal karyotyping analysis and copy number variation sequencing(CNV-seq)for fetus 1,while G-banding chromosomal karyotyping and single nucleotide polymorphism microarray analysis(SNP array)were carried out for fetus 2.Peripheral venous blood samples of couple 1 were collected for CNV-seq to verify the origin of copy number variation.Results NIPT indicated that fetus 1 had harbored a 1.3 Mb deletion in the Xp22.31 region,while G-banding chromosomal karyotyping had found no abnormality.CNV-seq analysis verified the fetus to be seg[GRCh37]del(X)(p22.31)chrX:g.6800001_7940000del,with a 1.14 Mb deletion at Xp22.31,which was derived from its mother.NIPT indicated that fetus 2 had harbored a 1.54 Mb deletion in the Xp22.31 region,while G-banding chromosomal karyotyping had found no abnormality.SNP array analysis indicated arr[GRCh37]Xp22.31(6458940_8003247)×0,with a 1.54 Mb deletion in Xp22.31 region.Conclusion NIPT not only has a good performance for detecting fetal trisomies 21,18 and 13,but also has the potential for detecting chromosomal microdeletion/microduplications.For high risk fetuses indicated by NIPT,prenatal diagnosis needs to be carried out to verify the chromosomal abnormalities.

关 键 词：无创产前检测 Xp22.31 微缺失综合征 产前诊断 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]