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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine

Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes.

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine

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