Abstract
AbstractThe prenatal BACs-on-Beads™ (BoBs) assay was introduced for rapid detection of abnormalities of chromosomes 13, 18, 21, X, and Y and specific nine significant microdeletion syndromes. The ability of prenatal BoBs to detect mosaicism ranged from 20 to 40%. However, there have been no prenatal studies of sex chromosome mosaicism in prenatal BoBs. Therefore, the present study was performed with an aim to uncover the detection level of sex chromosome mosaicism that application of prenatal BoBs assay, and then to assess the sensitivity of prenatal BoBs assay, thereby improving the prenatal diagnostic accuracy. A total of 31 samples of amniotic fluid (AF) and umbilical cord blood (UCB) for prenatal diagnosis were collected, and the results were confirmed through karyotyping, single nucleotide polymorphism microarray (SNP-array) and copy number variation sequencing (CNV-seq). 23 cases of sex chromosome mosaicism were prompted abnormal by prenatal BoBs, the minimum detection level of mosaicism was about 6% as detected by karyotype. The overall sensitivity of prenatal BoBs in the detection of sex chromosome mosaicism was 74.2% (23/31). This study evaluated the effectiveness of prenatal BoBs for detecting sex chromosome mosaicism in prenatal diagnosis, and the results will provide valuable information for genetic counseling.
Funder
the Research Fund Project of Fujian Maternity and Child Health Hospital grant
Fujian Provincial Natural Science Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Reference29 articles.
1. Armstrong JM, Malhotra NR, Lau GA (2020) Seminoma in a young phenotypic female with turner syndrome 45,XO/46,XY mosaicism: a case report with review of the literature. Urology 139
2. Artemis M, Georgia N, Marianna T, Kimon S, Lina M (2018) A spontaneous pregnancy in a patient with Turner Syndrome with 45,X/47,XXX mosaicism: a case report and review of the literature. J Pediatr Adolesc Gynecol S1083318818302572
3. Calanchini M, Aye CYL, Orchard E, Baker K, Turner HE (2020) Fertility issues and pregnancy outcomes in Turner syndrome. Fertil Steril 114(1):144–154
4. Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A et al (2013) The detection of mosaicism by prenatal BoBs. Prenat Diagn 33(1):42–49. https://doi.org/10.1002/pd.4006
5. Donaghue C, Mann K, Docherty Z, Ogilvie CM (2005) Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 25(1):65–72