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Carrier screening in the community

D J Brock1

  • 1Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK.

Journal of Inherited Metabolic Disease
|January 1, 1995
PubMed
Summary
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Cystic Fibrosis (CF) carrier screening models were tested. The antenatal couple model, evaluated in pregnant women, is likely the most effective for routine CF genetic screening services.

Area of Science:

  • Medical Genetics
  • Public Health Screening

Background:

  • Several cystic fibrosis (CF) carrier screening models have undergone pilot testing.
  • Screening programs have primarily targeted young adults in primary care or pregnant women in antenatal settings.

Purpose of the Study:

  • To evaluate different cystic fibrosis carrier screening models.
  • To determine the optimal delivery method for CF carrier screening.

Main Methods:

  • Pilot trials of various CF carrier screening models.
  • Data collection focused on screening delivered to pregnant women in antenatal clinics.

Main Results:

  • Sufficient data exists for evaluating screening delivered to pregnant women.
  • The antenatal couple model has the most comprehensive data for assessing delivery modes.

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Conclusions:

  • The antenatal couple model is the most probable approach for routine cystic fibrosis carrier screening.
  • Further implementation of CF carrier screening is anticipated within antenatal services.