一例嵌合型染色体数目与结构异常胎儿的产前筛查与诊断  

Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality

作　　者：冯丽云 郭苑青 马海霞 何丽梅 宋芬[1] 周毓青 唐龙英 Feng Liyun;Guo Yuanqing;Ma Haixia;He Limei;Song Fen;Zhou Yuqing;Tang Longying(Prenatal Diagnosis Center,Changning Maternity and Child Health Care Hospital,East China Normal University,Shanghai 200050,China)

机构地区：[1]华东师范大学附属上海市长宁区妇幼保健院产前诊断中心,上海200050

出　　处：《中华医学遗传学杂志》2022年第7期768-772,共5页Chinese Journal of Medical Genetics

基　　金：上海市医学重点专科项目(ZK2019B02)。

摘　　要：目的联合应用多种技术对一例高龄孕妇进行产前筛查与诊断。方法采用无创产前检测(non-invasive prenatal testing,NIPT)技术对胎儿进行非整倍体筛查,抽取羊水细胞进行胎儿染色体核型分析和低深度全基因组测序拷贝数变异检测(copy number variation sequencing,CNV-seq),对孕中期胎儿进行系统超声检查;对孕妇夫妇的外周血细胞进行染色体核型分析。结果NIPT提示胎儿性染色体异常;羊水核型提示为嵌合型性染色体异常45,X[53]/46,X,+mar[7];胎儿羊水细胞DNA CNV-seq显示seq[GRCh37]del(Yq11.1q12)chrY:g.13104553-28819361del,seq[GRCh37]del(Yp11.32p11.2)chrY:g.10001-9873915del(嵌合比例30%);超声检查提示胎儿肾脏发育异常;引产儿外生殖器表现为男性;孕妇夫妇外周血染色体核型未见异常。结论NIPT可筛查部分胎儿性染色体异常疾病,后续的产前诊断与遗传咨询将有赖于胎儿核型分析、拷贝数变异检测以及超声检查等多种技术的联合应用。嵌合型性染色体异常胎儿的生后表型难以准确评估,产前遗传咨询应全面告知其可能的预后。Objective To carry out prenatal screening and diagnosis for a woman with advanced maternal age.Methods Non-invasive prenatal testing(NIPT)was carried out to determine the risk of fetal chromosome aneuploidy.Aminiocentesis was proceeded for fetal chromosomal karyotyping and copy number variation sequencing(CNV-seq).The fetus was subjected to systematic ultrasound screening in the second trimester.Results NIPT has indicated there was a loss of fetal sex chromosome.Karotyping of the amniocyte showed a mosaic sex chromosome abnormality 45,X[53]/46,X,+mar[7].The result of fetal DNA CNV-seq was seq[GRCh37]del(Yq11.1q12)chrY:g.13104553-28819361del,seq[GRCh37]del(Yp11.32p11.2)chrY:g.10001-9873915del(mosaic ratio:30%).Ultrasonography discovered that the fetus had renal dysplasia and male external genitalia.The karyotypes of the couple were both normal.Conclusion Multiple genetic tests should be carried out for fetus with a high risk for chromosome aneuploidies signaled by NIPT.It is difficult to predict the post-natal phenotype for fetuses with mosaic sex chromosomal aneuploidies.The couple should be carefully counseled upon genetic counseling.

关 键 词：无创产前检测 嵌合型性染色体异常 拷贝数变异检测 产前诊断 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]