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Related Experiment Videos

Prenatal genetic carrier testing using triple disease screening

C M Eng1, C Schechter, J Robinowitz

  • 1Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. ceng@smtplink.mssm.edu

JAMA
|October 23, 1997
PubMed
Summary

Simultaneous prenatal carrier screening for Tay-Sachs disease, Gaucher disease, and cystic fibrosis is feasible and well-accepted. Genetic counseling significantly improves understanding and informed decision-making for multiple genetic disease screenings.

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Area of Science:

  • Medical Genetics
  • Reproductive Health
  • Genetic Counseling

Background:

  • Advances in gene discovery enhance carrier screening and prenatal testing for genetic diseases.
  • Simultaneous prenatal carrier screening for multiple prevalent genetic diseases has not been evaluated.
  • Patient acceptance and attitudes toward this testing strategy are undefined.

Purpose of the Study:

  • To evaluate an educational, counseling, and carrier testing program for Tay-Sachs disease (TSD), type 1 Gaucher disease (GD), and cystic fibrosis (CF).
  • To assess patient acceptance and attitudes toward simultaneous prenatal carrier screening for these three genetic disorders.

Main Methods:

  • A medical genetics referral center enrolled 2824 Ashkenazi Jewish individuals in couples for TSD testing.
Keywords:
Empirical ApproachGenetics and ReproductionMount Sinai Medical Center (New York City)

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  • Participants received education and genetic counseling, provided informed consent, and underwent screening for TSD, CF, and GD.
  • Pre- and posteducation questionnaires assessed knowledge, attitudes toward genetic testing, and disease testing preferences.

    • Main Results:

    • High acceptance rates for simultaneous screening: 97% for CF and 95% for GD alongside TSD testing.
    • Carrier frequencies: TSD (1:21), CF (1:25), and GD (1:18). Twenty-one carrier couples were identified and counseled.
    • Education and counseling improved knowledge, minimized anxiety, and facilitated informed decisions, with reproductive choices influenced by disease severity and treatability.

    Conclusions:

    • Genetic counseling is crucial for effective prenatal carrier testing for multiple genetic diseases.
    • This program demonstrates improved understanding, acceptance, and informed decision-making for simultaneous prenatal carrier screening.
    • Findings support the integration of comprehensive genetic counseling into prenatal screening protocols for multiple disorders.