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Related Experiment Videos

Decrease in gamma-glutamyl transpeptidase activity in early amniotic fluid in fetal trisomy 18 syndrome.

H Janlanko, P Aula

    British Medical Journal (Clinical Research Ed.)
    |May 29, 1982
    PubMed
    Summary
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    Assessing gamma-glutamyl transpeptidase activity in amniotic fluid can serve as a rapid preliminary test for prenatal diagnosis of chromosomal abnormalities. Lower enzyme activity levels were observed in pregnancies with fetal chromosome issues.

    Area of Science:

    • Biochemistry
    • Prenatal Diagnostics
    • Genetics

    Background:

    • Prenatal diagnosis of chromosomal abnormalities is crucial for managing potential health issues.
    • Accurate and timely diagnostic methods are continuously sought.
    • Gamma-glutamyl transpeptidase (GGT) is an enzyme found in various tissues.

    Purpose of the Study:

    • To investigate the potential of gamma-glutamyl transpeptidase (GGT) activity in amniotic fluid as a marker for fetal chromosomal abnormalities.
    • To determine if GGT levels differ significantly between normal pregnancies and those with detected chromosomal issues.

    Main Methods:

    • Collected 259 amniotic fluid samples from pregnancies at various gestational weeks.
    • Measured gamma-glutamyl transpeptidase activity in all samples.

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  • Compared GGT activity in samples from pregnancies with normal karyotypes (controls) versus those with detected chromosomal abnormalities.

    • Main Results:

    • Established a mean GGT activity of 602 U/l in control samples at 15 weeks of gestation.
    • Observed significantly lower GGT activity in samples from pregnancies with fetal chromosomal abnormalities.
    • Found that 74% of abnormal cases had GGT levels below the 10th percentile and 52% below the 2.5th percentile of control values.

    Conclusions:

    • Assay of gamma-glutamyl transpeptidase activity in amniotic fluid is a rapid preliminary test for prenatal diagnosis of chromosomal abnormalities.
    • Reduced GGT activity may indicate the presence of fetal chromosomal abnormalities, warranting further investigation.