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- W4284992552 abstract "To carry out prenatal screening and diagnosis for a woman with advanced maternal age.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.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.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." @default.
- W4284992552 created "2022-07-11" @default.
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- W4284992552 date "2022-07-10" @default.
- W4284992552 modified "2023-09-28" @default.
- W4284992552 title "[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality]." @default.
- W4284992552 doi "https://doi.org/10.3760/cma.j.cn511374-20210513-00409" @default.
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