Prevalence of Cystic Fibrosis Mutations in Pregnancies With Fetal Echogenic Bowel

Sepúlveda, Waldo; Leung, Kwok; Robertson, Masumi; Kay, Earl B.; Mayall, Ed; Fisk, Nicholas M.

doi:10.1016/0029-7844(95)00356-8

Cited by 35 publications

(16 citation statements)

References 8 publications

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“…Hence numerous conflicting suggestions for management of this ultrasonographic finding have been advocated by different authors. Sepulveda et al [17] did not find an association between FEB and an increased incidence of CF mutations in 45 pregnancies at low risk for this disease. In contrast, in a review of 357 published cases, Bahdo-Singh et al [5] found CF mutations in 25.6% of cases with FEB.…”

Section: Discussionmentioning

confidence: 99%

“…These include chromosomal abnormalities, CF, congenital infection, IUGR, fetal anomalies, IUFD, preterm deliveries, gastrointestinal obstruction and/or perforation not associated with CF [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Intra-amniotic bleeding has recently been pointed out as a possible cause for FEB [15][16][17]. It is not clear, however, why FEB is found in association with vaginal bleeding.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of Fetal Echogenic Bowel in the Second Trimester

Yaron

Hassan²,

Geva

et al. 1999

Fetal Diagn Ther

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Previous studies cite different possible etiologies for fetal echogenic bowel (FEB). The purpose of this study was to evaluate the possible etiologies for second-trimester FEB, and to provide clinical guidelines for evaluation of this finding. The study included 79 patients diagnosed with FEB in the second trimester. Fifteen cases (19%) were associated with maternal vaginal bleeding. Of these, 12 patients underwent amniocentesis, 9 of which had visible blood products in the amniotic fluid. Seven cases (8.9%) had associated severe malformation. Seven other cases (8.9%) were noted in multifetal pregnancies. Five fetuses (6.3%) had evidence of bowel obstruction or perforation not associated with cystic fibrosis (CF). Chromosomal aberrations were found in 5 fetuses (6.3%). Intrauterine infection with cytomegalovirus, herpes simplex virus, varicella-zoster virus, or parvovirus B-19 was documented in 5 patients (6.3%). Three cases (3.8%) were associated with subsequent unexplained stillbirth. Two fetuses (2.5%) were found to be affected by CF. Finally, in 30 cases (38%), no obvious reason for FEB was found. We conclude that the evaluation of second-trimester FEB should include targeted ultrasound for associated malformations, infectious studies, DNA analysis for CF mutations, amniocentesis for chromosomal analysis and evaluation of the amniotic fluid for degraded blood products, and an autopsy in cases of stillbirth. Even when no apparent reason is found, pregnancies should be considered at high risk for poor outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Yaron

Hassan²,

Geva

et al. 1999

Fetal Diagn Ther

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“…Before CF mutation screening was available for the general population the first groups that were offered testing, in the early 90s, were relatives of patients and partners of recognized carriers [38,39]. Carrier testing was also indicated in cases of couples undergoing IVF due to male infertility and in cases of pregnancy with sonographic echogenic bowel findings during the 2 nd trimester [40,41]. In the late 90s carrier screening for CF started being available for the general population and was offered mainly to couples considering having a child or at the early stages of an ongoing pregnancy [35].…”

Section: Carrier Screening: the Early Years -The First Guidelinesmentioning

confidence: 99%

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Poulou¹,

Tzetis²

2017

obm genet

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Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected children, has been recommended. We review the history of population based carrier screening for CF, focusing on the screening guidelines, the current requirements and the difficulties of implementation, considering especially the heterogeneity of CF-causing mutations.

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“…The ultrasound finding of echogenic bowel, present in 0.1 to 0.2% of all pregnancies, may result from fetal meconium ileus and can be due to CF [Dicke and Crane, 1992;Sepulveda et al, 1996;Irish et al, 1997]. The differential diagnosis associated with echogenic bowel also includes a normal pregnancy, chromosome abnormality, and congenital viral infection [Sepulveda et al, 1996].…”

Section: Introductionmentioning

confidence: 98%

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations

et al. 1999

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We describe a general approach to derive fetal risk following two separate test results that each raise the likelihood of the same fetal abnormality without clearly determining whether the abnormality exists. Echogenic bowel observed on fetal ultrasonography may have multiple causes, including an a priori risk of approximately 1% of cystic fibrosis (CF). On numerous occasions our laboratory tests have detected only normal cystic fibrosis transmembrane regulator (CFTR) alleles in fetuses with echogenic bowel. This result indicates that another cause most likely explains the abnormal ultrasound finding. One of our tested fetuses was heterozygous for the deltaF508 CFTR mutation and had a normal karyotype. Over 770 CFTR mutations have been described, and a significant proportion of parental mutant alleles could not be detected by our 25-mutation test. Further mutation analysis demonstrated that the fetus' mother carried the deltaF508 mutation but the father (of different ethnic background than the mother) did not carry a detectable mutation. Thus, this test result substantially increased the risk of the fetus having CF, while still not giving a definitive answer to whether the fetus was affected. A rigorous mathematical analysis determined that the 1% risk of CF following ultrasound study was increased to slightly under 12% following DNA analysis. The case is described, and the mathematical formulas are explained and illustrated with examples, along with a review of conditional probability (Appendix 2).

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Prevalence of Cystic Fibrosis Mutations in Pregnancies With Fetal Echogenic Bowel

Abstract: 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.

Cited by 35 publications

References 8 publications

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations

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