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1.
Genet Med ; 1(4): 129-35, 1999.
Article in English | MEDLINE | ID: mdl-11258347

ABSTRACT

PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.


Subject(s)
Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Genetic Counseling , Genetic Testing , Prenatal Diagnosis , Clinical Trials as Topic , Disclosure , Ethics, Medical , Female , Genetic Counseling/economics , Genetic Counseling/trends , Genetic Testing/economics , Genetic Testing/trends , Humans , Male , Mutation , Prenatal Diagnosis/economics , Prenatal Diagnosis/trends , Professional-Patient Relations , Risk Factors
2.
Prog Clin Biol Res ; 281: 289-300, 1988.
Article in English | MEDLINE | ID: mdl-3174713

ABSTRACT

PIP: An essay for cotinine levels in maternal serum was used to define cigarette smoking exposure level and fetal morbidity and mortality. Cotinine, a metabolite of nicotine, has a circulating half-life of about a day, making it more reliable than nicotine as an indicator or active and passive smoke exposure. Maternal smoking has been linked in previous studies with low Apgar scores, low birthweight, decreased placental blood flow, fetal activity, fetal breathing movements, depressed prostacyclin synthesis in umbilical artery, increased perinatal mortality and spontaneous abortion. In this study, 8063 2nd trimester pregnant women whose serum had been collected and frozen in 1979-1983 were analyzed for smoking habit determined from intake questionnaires. Cotinine levels correlated with 95% of those reporting no smoking, and 93% of those reporting smoking. Smokers with cotinine 10 ng/ml was higher than expected, possible because some women quit before blood was drawn. Cotinine levels did not correlate as well as number of cigarettes per day reported. There was a significant association between serum cotinine and birthweight at the 10 and 20 cigarette/day level, and a trend toward a link between cotinine and fetal deaths in 2nd and 3rd trimesters. Among infants of the 30% of women exposed to passive smoke whose serum cotinine levels were 1 ng/ml, the average birth weight was 107 g lower than those of non-exposed women, a difference remaining after controlling for maternal weight and height, infant's sex, maternal age, gravidity and education.^ieng


Subject(s)
Cotinine/blood , Fetal Death/etiology , Fetal Diseases/etiology , Pregnancy/blood , Pyrrolidinones/blood , Smoking/adverse effects , Female , Humans
3.
Am J Hum Genet ; 41(2): 309, 1987 Aug.
Article in English | MEDLINE | ID: mdl-17948575
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