Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel

Sepulveda, Waldo, Leung, Kwok Yin, Robertson, M.Elaine, Kay, Elizabeth, Mayall, Edward S. and Fisk, Nicholas M. (1996) Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel. Obstetrics and Gynecology, 87 1: 103-106. doi:10.1016/0029-7844(95)00356-8

Author Sepulveda, Waldo
Leung, Kwok Yin
Robertson, M.Elaine
Kay, Elizabeth
Mayall, Edward S.
Fisk, Nicholas M.
Title Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel
Journal name Obstetrics and Gynecology   Check publisher's open access policy
ISSN 0029-7844
Publication date 1996-01
Sub-type Article (original research)
DOI 10.1016/0029-7844(95)00356-8
Volume 87
Issue 1
Start page 103
End page 106
Total pages 4
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Language eng
Formatted abstract
To determine the prevalence of the most common cystic fibrosis mutations in pregnancies complicated by fetal echogenic bowel by using DNA testing.

Forty-five pregnancies with fetal echogenic bowel were studied prospectively for cystic fibrosis mutations. Using polymerase chain reaction, DNA from fetal amniocytes (n = 21), fetal blood (n = 5), or parental blood (n = 19) was amplified and tested for ΔF508, G551D, G542X, and 621+1G→T cystic fibrosis mutations, which account for about 85% of the mutations in the British population. In selected cases, further mutations were tested according to the parental ethnic background.


Only one of the 26 fetuses screened was heterozygous for cystic fibrosis mutations. Among 38 parental samples screened from the remaining 19 pregnancies, cystic fibrosis mutations were detected in two cases, only one of the parents being a carrier in each case. The prevalence of cystic fibrosis carrier status in fetal and parental samples (1:26 and 1:19, respectively) is within the expected prevalence in the British population (1:25). No fetuses were affected by cystic fibrosis in this series, but five were found to have growth restriction, two trisomy 21, two congenital infection, and two bowel obstruction.


Our results suggest that ultrasonographic detection of fetal echogenic bowel is not associated with an increased prevalence of cystic fibrosis mutations in pregnancies at low risk for this disease.
Keyword Gene
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Faculty of Health and Behavioural Sciences -- Publications
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