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Title: Cystic fibrosis heterozygote screening in 5,161 pregnant women

Abstract

A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both partners were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretestmore » education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. 66 refs., 1 fig., 8 tabs.« less

Authors:
; ; ;  [1]
  1. Kaiser Permanente Medical Care Program of Northern California, San Jose, CA (United States); and others
Publication Date:
OSTI Identifier:
285064
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 58; Journal Issue: 4; Other Information: PBD: Apr 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; FEMALES; PREGNANCY; SCREENING; RESPIRATORY SYSTEM DISEASES; GENES; DISEASE INCIDENCE; DNA-CLONING; GENE MUTATIONS; MUTATION FREQUENCY; DETECTION; HEREDITARY DISEASES; RECESSIVE MUTATIONS

Citation Formats

Witt, D R, Hallam, P, Blumberg, B, and Fishbach, A. Cystic fibrosis heterozygote screening in 5,161 pregnant women. United States: N. p., 1996. Web.
Witt, D R, Hallam, P, Blumberg, B, & Fishbach, A. Cystic fibrosis heterozygote screening in 5,161 pregnant women. United States.
Witt, D R, Hallam, P, Blumberg, B, and Fishbach, A. 1996. "Cystic fibrosis heterozygote screening in 5,161 pregnant women". United States.
@article{osti_285064,
title = {Cystic fibrosis heterozygote screening in 5,161 pregnant women},
author = {Witt, D R and Hallam, P and Blumberg, B and Fishbach, A},
abstractNote = {A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both partners were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. 66 refs., 1 fig., 8 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/285064}, journal = {American Journal of Human Genetics},
number = 4,
volume = 58,
place = {United States},
year = {Mon Apr 01 00:00:00 EST 1996},
month = {Mon Apr 01 00:00:00 EST 1996}
}