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Exencephaly in human fetuses.

Z Papp, K Csécsei, Z Tóth

    Clinical Genetics
    |November 1, 1986
    PubMed
    Summary
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    Exencephaly, a condition with exposed neural tissue, may transform into anencephaly in humans. Macrophages in fetal circulation and amniotic fluid likely facilitate this neural tissue degeneration.

    Area of Science:

    • Fetal Medicine
    • Developmental Biology
    • Pathology

    Background:

    • Exencephaly is characterized by exposed neural tissue, distinct from anencephaly.
    • The developmental pathway from exencephaly to anencephaly is not fully understood.

    Purpose of the Study:

    • To investigate the prenatal diagnosis and potential progression of exencephaly to anencephaly.
    • To explore the role of macrophages in the degeneration of exposed neural tissue.

    Main Methods:

    • Prenatal diagnosis of 10 exencephaly cases via ultrasound between 14-21 weeks gestation.
    • Pregnancy management included termination in 9 cases and selective feticide in a twin pregnancy.
    • Analysis of amniotic fluid for macrophage presence.

    Main Results:

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    • Ultrasound identified 10 typical exencephaly cases.
    • In a twin pregnancy, the exencephalic co-twin underwent selective feticide, resulting in a mummified anencephalic fetus papyraceus at term.
    • Elevated numbers of phagocytic macrophages were observed in amniotic fluid samples from exencephalic fetuses.

    Conclusions:

    • Exencephaly may progress to anencephaly in humans through degeneration of exposed neural tissue.
    • Macrophages in fetal circulation and amniotic fluid are suggested to play a significant role in this degenerative process.