Document Detail

Predicting the risk of cystic fibrosis with echogenic fetal bowel and one cystic fibrosis mutation.
MedLine Citation:
PMID:  10576193     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To assess fetal risk for cystic fibrosis when echogenic bowel and one cystic fibrosis mutation are detected. METHODS: A hypothetical cohort of 1000 women with singleton pregnancies and echogenic fetal bowel during the second trimester was used to determine the probability of cystic fibrosis when one cystic fibrosis transmembrane conductance regulator mutation was detected. The risk of cystic fibrosis was calculated using the range of prevalence of cystic fibrosis in fetuses with echogenic bowel reported in the literature. Risk calculations for fetuses of Ashkenazi Jewish, Northern European, African-American, Hispanic, and Asian descent accounted for carrier frequencies and mutation detection rates specific to each ethnic group. RESULTS: As the assumed prevalence of cystic fibrosis increases from 1-25%, the probability that a white fetus with one mutation and echogenic fetal bowel actually has cystic fibrosis increases from 4.8% to 62.5%. Assuming a 2% risk of cystic fibrosis with echogenic fetal bowel, an Ashkenazi Jewish fetus and an Asian fetus with echogenic bowel and one mutation have a 3.1% and 72% risk of cystic fibrosis, respectively. The probability of cystic fibrosis in a nonwhite fetus is between those two extremes. CONCLUSION: The probability of cystic fibrosis after detection of echogenic bowel and one cystic fibrosis mutation varied among ethnic groups. Even at the highest prevalence of cystic fibrosis, most white fetuses will not have cystic fibrosis. In nonwhite populations almost half of these fetuses will have cystic fibrosis, even at the lowest prevalence of cystic fibrosis.
A F Bosco; M E Norton; E Lieberman
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  94     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  1999 Dec 
Date Detail:
Created Date:  1999-12-09     Completed Date:  1999-12-09     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1020-3     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
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MeSH Terms
Cystic Fibrosis / epidemiology*,  ethnology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Genetic Counseling
Intestines / ultrasonography*
Predictive Value of Tests
Pregnancy Trimester, Second
Risk Assessment
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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