Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
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DOI: 10.1136/jmedgenet-2020-106867
Abstract: Purpose Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth… read more here.
Keywords: exome sequencing; multiple congenital; genotype; fetuses multiple ... See more keywords