Cystic fibrosis heterozygote screening in 5,161 pregnant women

Journal Article · Mon Apr 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:285064

Witt, D R; Hallam, P; Blumberg, B; Fishbach, A ^[1]

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1. Kaiser Permanente Medical Care Program of Northern California, San Jose, CA (United States); and others

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.

• OSTI ID: 285064
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DETECTION
DISEASE INCIDENCE
DNA-CLONING
FEMALES
GENE MUTATIONS
GENES
HEREDITARY DISEASES
MUTATION FREQUENCY
PREGNANCY
RECESSIVE MUTATIONS
RESPIRATORY SYSTEM DISEASES
SCREENING