Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel

Obstetrics and Gynecology

Volumn 87, Issue 1, 1996, Pages 103-106

  Sepulveda, Waldo ^a   Leung, Kwok Yin ^b   Robertson, M Elaine ^b   Kay, Elizabeth ^b   Mayall, Edward S ^b   Fisk, Nicholas M ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; AMNION CELL; ARTICLE; CLINICAL ARTICLE; CONGENITAL INFECTION; CYSTIC FIBROSIS; DNA DETERMINATION; ETHNOLOGY; FEMALE; FETUS; FETUS BLOOD; FETUS ECHOGRAPHY; GENE MUTATION; HETEROZYGOTE; HUMAN; INTESTINE OBSTRUCTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRISOMY 21; UNITED KINGDOM;

EID: 0342903112     PISSN: 00297844     EISSN: None     Source Type: Journal    
DOI: 10.1016/0029-7844(95)00356-8     Document Type: Article

References (15)

1. Nyberg DA, Dubinsky T, Resta RG, Mahony BS, Hickok DE, Luthy DA. Echogenic fetal bowel during the second trimester: Clinical importance. Radiology 1993;188:527-31.
2. Bromley B, Doubilet P, Frigoletto FD, Krauss C, Estroff JA, Benacerraf BR. Is fetal hyperechogenic bowel on second-trimester sonogram an indication for amniocentesis? Obstet Gynecol 1994;83:647-51.
3. Scioscia AL, Pretorius DH, Budorick NE, Cahill TC, Axelrod FT, Leopold GR. Second-trimester echogenic bowel and chromosomal abnormalities. Am J Obstet Gynecol 1992;167:889-94.
4. Dicke JM, Crane JP. Sonographically detected hyperechoic fetal bowel: Significance and implications for pregnancy management. Obstet Gynecol 1992;80:778-82.
5. Sepulveda W, Hollingsworth J, Bower S, Vaughan JI, Fisk NM. Fetal hyperechogenic bowel following intra-amniotic bleeding. Obstet Gynecol 1994;83:947-50.
6. Boué A, Muller F, Nezelof C, et al. Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis. Hum Genet 1986;74:288-97.
7. Brock DJH. Cystic fibrosis. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal diagnosis and screening. Edinburgh: Churchill Livingstone, 1992:441-60.
8. Elias S, Annas GJ, Simpson JL. Carrier screening for cystic fibrosis: Implications for obstetrics and gynecologic practice. Am J Obstet Gynecol 1991;164:1077-83.
9. Sepulveda W, Reid R, Nicolaidis P, Prendiville O, Chapman RS, Fisk NM. Second-trimester echogenic bowel and intraamniotic bleeding: Association between fetal bowel echogenicity and amniotic fluid spectrophotometry at 410 nm. Am J Obstet Gynecol (in press).
10. Ferrie RM, Schwarz MJ, Robertson NH, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992;51:251-62.
11. Osborne L, Knight R, Santis G, Hodson M. A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet 1991;48:608-12.
12. Abeliovich D, Lavon IP, Lerer I, et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992;51:951-6.
13. Sepulveda W, Bower S, Fisk NM. Third-trimester hyperechogenic bowel in Down syndrome. Am J Obstet Gynecol 1995;172:210-1.
14. Yudkin PL, Aboualfa M, Eyre JA, Redman CWG, Wilkinson AR. New birthweight and head circumference centiles for gestational ages 24 to 42 weeks. Early Hum Dev 1987;15:45-52.
15. Estroff JA, Parad RB, Benacerraf BR. Prevalence of cystic fibrosis in fetuses with dilated bowel. Radiology 1992;183:677-80.