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- Title
Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.
- Authors
Daum, H.; Meiner, V.; Hacohen, N.; Zvi, N.; Eilat, A.; Drai‐Hasid, R.; Yagel, S.; Zenvirt, S.; Frumkin, A.; Drai-Hasid, R
- Abstract
<bold>Objective: </bold>Chromosomal microarray analysis (CMA) is the modality of choice for prenatal diagnosis in pregnancy with fetal malformation, as it has a high diagnostic yield for microdeletion/duplication syndromes. The aim of this study was to demonstrate the additional utility of single-nucleotide polymorphism (SNP)-based CMA in diagnosing monogenic diseases, imprinting disorders and uniparental disomy (UPD).<bold>Methods: </bold>CMA was performed using Affymetrix CytoScan array, for all indications in 6995 pregnancies, at a tertiary referral hospital from November 2013 to June 2018. We describe four cases that had a CMA result that provided a more comprehensive understanding of the complex genetic mechanisms underlying the clinical presentation.<bold>Results: </bold>In the first fetus, CMA was performed due to intrauterine growth restriction and revealed a 75 kbp maternally inherited microdeletion encompassing the Bloom syndrome gene (BLM). A diagnosis of Bloom syndrome was made upon identifying a paternally inherited common Ashkenazi founder mutation. In the second case, CMA was performed due to severely abnormal maternal serum analytes and revealed a deletion in 14q32.2q32.31 on the maternally inherited copy, leading to a diagnosis of Kagami-Ogata syndrome, which is an imprinting disorder. In the third case, amniocentesis was performed because of late-onset fetal macrosomia and mild polyhydramnios. CMA detected a deletion encompassing the locus of Prader-Willi/Angelman syndrome. In the fourth case, amniocentesis was performed due to maternal cytomegalovirus seroconversion. Maternal UPD of the entire long arm of chromosome 11 was detected.<bold>Conclusion: </bold>Prenatal CMA, based on oligo and SNP platforms, increases the diagnostic yield and enables a wider spectrum of disorders to be detected through the identification of complex genetic etiologies beyond only copy number variants. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
- Subjects
POLYHYDRAMNIOS; DNA copy number variations; FETAL macrosomia; FETAL development; PRENATAL diagnosis; DISEASES
- Publication
Ultrasound in Obstetrics & Gynecology, 2019, Vol 54, Issue 5, p655
- ISSN
0960-7692
- Publication type
journal article
- DOI
10.1002/uog.20230