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Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period

K H Gustavson, H Jorulf

    Clinical Genetics
    |March 1, 1976
    PubMed

    Insights

    This study investigated 207 perinatal deaths to identify inherited malformations. Purely genetic causes, including mutant genes and chromosomal aberrations, were found in 13 cases, aiding genetic counseling.

    Area of Science:

    • Perinatal Medicine
    • Medical Genetics
    • Congenital Malformations

    Background:

    • A 4.5-year study examined 207 perinatal deaths to identify inherited malformations.
    • The study aimed to assess the risk of recurrence in subsequent siblings.

    Observation:

    • Fifty-three of the 207 infants studied presented with malformations.
    • Investigations included clinical, genetic, roentgenological, and autopsy assessments.

    Findings:

    • Purely genetic causes were identified in 13 cases of malformation.
    • These genetic causes included 11 cases of mutant genes with large effects and 2 cases of chromosomal aberrations.

    Implications:

    • Identifying specific genetic causes of perinatal malformations is crucial.
    • This information provides a strong foundation for genetic counseling of families at risk.

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