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The role of chromosomal microarray and exome sequencing in prenatal diagnosis

18 Jan 2021

Abstract excerpt

PURPOSE OF REVIEW: Advancements in technologies have revolutionized prenatal diagnosis. Chromosomal microarray analysis (CMA) became a proven method and was implemented to detect gains and losses of DNA and absence of heterozygosity across the genome. Next-generation sequencing technologies have brought opportunities and challenges to genetic testing. Exome sequencing detects single-nucleotide variants (SNVs)...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33620893
DOI: 10.1097/gco.0000000000000692

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