Prenatal exome sequencing for fetuses with structural abnormalities: the next step

Abstract excerpt

Fetal anomalies complicate up to 3% of pregnancies and are being diagnosed by ultrasound prenatally with increasing sensitivity and specificity1. The overall prognosis and long-term outcome is very variable, being dependent upon: i) the type of fetal anomaly, ii) whether the anomaly is isolated or there are additional abnormalities suggestive of a known malformation syndrome and iii) the underlying genetic...

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