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

作者：Liyun Feng, Yuanqing Guo, Haixia Ma, Limei He, Fen Song, Yuqing Zhou, Longying Tang · 发表于：PubMed · 年份：2022 · DOI：10.3760/cma.j.cn511374-20210513-00409 · 被引用次数：1 · 研究领域：Prenatal Screening and Diagnostics、Fetal and Pediatric Neurological Disorders、Genomic variations and chromosomal abnormalities

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.