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Abstract

October to December 2018 | Vol. 11 | Issue 4 | 16-17
Whole Genome Sequencing: The Way Forward for Molecular Cytogenetics
Gayatri N, Surya Prabha B, Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Prenatally detected de novo balanced chromosomal rearrangements have been reported to be associated with a 6-9% risk of adverse outcome, but the postnatal long-term morbidity in these antenatally detected cases has not been adequately studied. In this study, Halgren et al. have obtained long term follow-up data, for a mean period of around 17 years, from an existing national registry as well as through clinical follow-up, for 41 individuals who had prenatally detected de novo apparently balanced chromosomal rearrangements (BCRs) but no antenatal ultrasound anomalies (where the pregnancy was continued), and found that as many as 27% of them developed neuropsychiatric or neurodevelopmental disorders. Samples could be obtained from 32 out of these 41 individuals. Chromosomal microarray (CMA) in all these 32 cases was normal. Next generation sequencing (NGS)-based mate-pair sequencing could be done in 29 cases, out of which 21 had intragenic or non-genic disruptions. The findings included disruption of genes (ARID1B, NPAS3, CELF4) or regulatory domains of known developmental genes (ZEB2, HOXC), or complex BCRs which correlated with the adverse outcomes in these patients. This study demonstrates that NGS outperforms CMA in the characterization of prenatally detected de novo BCRs and can help in more accurate prognostication of these cases. NGS-based mate pair sequencing may soon replace CMA in the evaluation of de novo BCRs, specifically in cases with structurally normal fetuses, where the diagnostic yield of CMA is very low.
 
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