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Related Experiment Videos

Recent experience in prenatal fra(X) detection.

E C Jenkins1, W T Brown, M S Krawczun

  • 1Institute for Basic Research, New York State Office of Mental Retardation and Developmental Disabilities, Staten Island 10314.

American Journal of Medical Genetics
|May 1, 1988
PubMed
Summary
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Prenatal diagnosis of fragile X (fraX) syndrome using FUdR and thymidine induction methods is effective. Careful examination of multiple cultures is crucial to prevent false-negative fraX diagnoses in prenatal samples.

Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Molecular Biology

Background:

  • Fragile X (fraX) syndrome is a genetic disorder.
  • Prenatal diagnosis of fraX is possible through various fetal samples.
  • Previous studies have reported fraX diagnosis in amniotic fluid, fetal blood, and chorionic villus samples.

Purpose of the Study:

  • To evaluate the efficacy of FUdR and excess thymidine (THY) in detecting the fraX marker chromosome in prenatal samples.
  • To identify potential challenges and recommend best practices for accurate fraX prenatal diagnosis.

Main Methods:

  • Detection of fraX (q27.3) in amniotic fluid and chorionic villus samples (CVS) from male and female fetuses.
  • Utilized FUdR and excess thymidine (THY) induction methods for marker chromosome demonstration.

Related Experiment Videos

  • Analyzed multiple cultures per protocol to assess reproducibility and expression levels.

    • Main Results:

    • Both FUdR and THY detected fraX, with FUdR generally being superior, except in placental cultures.
    • Significant variability in fraX expression was observed between different cultures and even within the same protocol.
    • A case of false-negative fraX prenatal diagnosis and a case with very low fraX expression were encountered, highlighting diagnostic challenges.

    Conclusions:

    • The excess THY fraX induction system is effective but not superior to FUdR.
    • Analyzing at least two duplicate cultures per induction system is recommended to minimize false-negative results.
    • Complementary DNA marker studies or fetal blood cultures should be considered when fraX is not demonstrated or shows low frequencies in CVS/amniotic fluid.
    • Early gestational age dating by ultrasonography is advised.