Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing
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DOI: 10.1002/pd.5670
Abstract: Genome sequencing is increasingly being used to aid genetic diagnosis in fetuses with structural abnormalities detected on ultrasound examination. However, with clinical exome and genome sequencing, there is potential for the recognition and reporting of… read more here.
Keywords: diagnosis; genes acmg; secondary findings; prenatal diagnosis ... See more keywords