Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality
10.3760/cma.j.cn511374-20210513-00409
- VernacularTitle: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
- Author:
Liyun FENG
1
;
Yuanqing GUO
;
Haixia MA
;
Limei HE
;
Fen SONG
;
Yuqing ZHOU
;
Longying TANG
Author Information
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
- Keywords:
Non-invasive prenatal testing;
Mosaic sex chromosome abnormality;
Copy number variation sequencing;
Prenatal diagnosis;
Genetic counselling
- From:
Chinese Journal of Medical Genetics
2022;39(7):768-772
- CountryChina
- Language:Chinese
-
Abstract:
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. 13 104 553-28 819 361del, seq[GRCh37]del(Yp11.32p11.2) chrY: g. 10 001-9 873 915del (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.
