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Differences between the events preceding spina bifida and anencephaly

W H James

    Journal of Medical Genetics
    |February 1, 1981
    PubMed
    Summary

    Monozygotic (MZ) twins show a continuum of anencephaly risk linked to placentation, with higher risks in conjoined twins. This malformation risk differs from spina bifida susceptibility in MZ twins.

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    Area of Science:

    • Developmental biology
    • Reproductive medicine
    • Teratology

    Background:

    • Monozygotic (MZ) twinning involves a developmental continuum from dichorionic to conjoined pairs, indexed by placentation.
    • Previous research suggests a correlation between this twinning continuum and predisposition to certain congenital anomalies.
    • The specific susceptibility of MZ twins to neural tube defects like anencephaly and spina bifida requires further clarification.

    Purpose of the Study:

    • To investigate the relationship between the MZ twin placentation continuum and the predisposition to anencephaly and spina bifida.
    • To analyze concordance patterns for anencephaly and spina bifida within MZ twin pairs.
    • To explore the prevalence of anencephaly in different types of conjoined twins (double monsters).

    Main Methods:

    • Review and synthesis of existing literature on MZ twin placentation and congenital malformations.
    • Comparative analysis of anencephaly and spina bifida rates across different placentation types (dichorionic, monochorionic diamniotic, monochorionic monoamniotic, conjoined).
    • Examination of concordance data for specific malformations in MZ twin pairs and prevalence in double monsters.

    Main Results:

    • A continuum of anencephaly predisposition exists, increasing from dichorionic to monochorionic monoamniotic and conjoined twins.
    • MZ twins, particularly monoamniotic and conjoined types, show a high liability to anencephaly.
    • MZ twins are not disproportionately susceptible to spina bifida compared to anencephaly.
    • Concordance for anencephaly and spina bifida within pairs is predominantly for the same malformation, with few instances of one twin having anencephaly and the other spina bifida.
    • Anencephaly prevalence in double monsters varies, being notably high in diprosopus.

    Conclusions:

    • The timing of embryonic events during MZ twin development likely explains the observed patterns of malformation predisposition and concordance.
    • Placentation type serves as a key indicator for anencephaly risk in the MZ twin developmental continuum.
    • The distinct susceptibility patterns for anencephaly versus spina bifida highlight specific developmental vulnerabilities in MZ twins.

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