Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

CONCLUSIONS: The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management.PMID:34374610 | DOI:10.1080/07853890.2021.1962966

Source: Annals of Medicine - August 10, 2021 Category: Internal Medicine Authors: Xiaomei Shi Hui Tang Jian Lu Xiue Yang Hongke Ding Jing Wu Source Type: research