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Fetal blood sampling and cytogenetic abnormalities

J D Liou1, C P Chen, W R Breg

  • 1Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.

Prenatal Diagnosis
|January 1, 1993
PubMed
Summary

Fetal blood cytogenetic analysis aids prenatal diagnosis of chromosomal mosaicism and fragile X syndrome. This method is valuable for rapid diagnosis when malformations are detected late in pregnancy.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Cytogenetics

Background:

  • Prenatal diagnosis relies on various cytogenetic techniques.
  • Chromosomal mosaicism and pseudomosaicism require accurate identification.
  • Fragile X syndrome is a significant genetic disorder detectable prenatally.

Purpose of the Study:

  • To evaluate the diagnostic utility of fetal blood cytogenetic analysis.
  • To assess the confirmation rates of different levels of mosaicism.
  • To determine the effectiveness of fetal blood sampling in diagnosing genetic abnormalities.

Main Methods:

  • Cytogenetic analysis of fetal blood samples from 214 pregnancies (1984-1991).
  • Referral of 134 cases for suspected chromosomal mosaicism after amniocyte studies.

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  • Analysis of cases with abnormal ultrasound, blood disorders, or other clinical conditions.

    • Main Results:

    • Confirmation rates for mosaicism were 0% (Level I), 1.4% (Level II), and 40% (Level III).
    • Four of 17 cases tested positive for fragile X syndrome.
    • Eleven chromosome abnormalities were identified in 63 cases with clinical indications.

    Conclusions:

    • Fetal blood sampling is a valuable adjunct for prenatal diagnosis of chromosomal mosaicism and pseudomosaicism.
    • It provides rapid cytogenetic diagnosis, especially for late-detected malformations.
    • This method enhances prenatal genetic screening and diagnosis accuracy.