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The Down syndrome in the fetus.

T D Stephens, T H Shepard

    Teratology
    |August 1, 1980
    PubMed
    Summary

    Most fetuses with Down syndrome (trisomy 21) are lost before birth. This study identified four common fetal features, including simian crease and heart defects, suggestive of trisomy 21.

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    Area of Science:

    • Prenatal Diagnosis
    • Fetal Development
    • Genetics

    Background:

    • Down syndrome (trisomy 21) is a common chromosomal disorder.
    • A significant proportion of affected fetuses are lost prenatally.
    • Limited data exists on the phenotypic characteristics of fetuses with trisomy 21.

    Purpose of the Study:

    • To identify common phenotypic features in fetuses diagnosed with trisomy 21.
    • To determine the utility of specific fetal characteristics in diagnosing trisomy 21.

    Main Methods:

    • Examination of 13 fetuses diagnosed with trisomy 21 via amniocentesis and therapeutic abortion.
    • Crown-rump length measurements were recorded.
    • Comparison of observed fetal features with control groups.

    Main Results:

    • Four features were found to be relatively common in trisomy 21 fetuses: simian crease, clinodactyly, septal heart defects, and decreased fetal size.
    • Other examined features showed less diagnostic utility.
    • The presence of two of these four features suggests trisomy 21.

    Conclusions:

    • Simian crease, clinodactyly, septal heart defects, and decreased size are significant indicators of trisomy 21 in fetuses.
    • A combination of two of these features can aid in prenatal suspicion of Down syndrome.
    • Further research can refine diagnostic criteria for fetal trisomy 21.

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