Prognostic implications of fetal echogenic bowel

Slotnick, R. Nathan; Abuhamad, Alfred

doi:10.1016/s0140-6736(96)90210-x

Cited by 119 publications

(100 citation statements)

References 10 publications

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“…With respect to the grading system, it has been suggested that the degree of echogenicity correlates with the severity of the findings, and that only highly echogenic bowel correlates with poor outcome [7]. At least in our experience, some cases of FEB associated with abnormal findings may not have echogenicity greater than bone.…”

Section: Discussionmentioning

confidence: 57%

“…In contrast, in a review of 357 published cases, Bahdo-Singh et al [5] found CF mutations in 25.6% of cases with FEB. In a recent article, Slotnick and Abuhamad [7] stated that they offer their patients genetic couseling, parental CF-carrier testing, and amniocentesis for fetal karyotype only when the echogenicity of the fetal bowel is equal to or greater than that of the iliac crest. Dicke and Crane [2] claim that the risk of fetal trisomy in cases of isolated hyperechoic bowel appears small and, when detected, hyperechoic bowel should prompt a complete and careful fetal anatomical survey, consideration of parental carrier testing for CF, and serial sonographic assessment of fetal growth, with cytogenetic testing reserved for cases demonstrating other structural malformations.…”

Section: Discussionmentioning

confidence: 99%

“…Fetal echogenic bowel (FEB) on second-trimester ultrasonography has been found to be associated with cystic fibrosis (CF) [1][2][3][4][5][6][7], chromosomal abnormalities [5][6][7][8][9][10][11], intrauterine growth restriction (IUGR) [2,5,6,9,10], intrauterine fetal demise (IUFD) [2,5,6,9,10,12], congenital infection [6,9,12], fetal anomalies [13], preterm delivery [5,6], gastrointestinal obstruction and/or perforation not associated with CF [3,12,14], intra-amniotic bleeding [15,16], and fetal alcohol syndrome [6]. While several causes for FEB have been cited by different authors, most previous studies have focused only on a limited number of the possible associations and etiologies.…”

Section: Introductionmentioning

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: 57%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

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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“…Intrauterine mortality in CF fetuses with hyperechoic bowel or meconium peritonitis is close to zero. 8,9 It is, therefore, most likely from extended intestinal ischemia that fetal death in CF may result. Volvulus is not uncommon in CF with complicated meconium ileus, presenting alone or in association with intestinal atresia in 17 to 35% of all cases with meconium ileus.…”

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis and intrauterine death

et al. 2007

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“…1,2 It can be benign and transient, or an indicator of varied fetal pathologies including cystic fibrosis (CF) (MIM 219700), which has been reported in 2.5-10.0% of cases. [2][3][4][5][6][7] CF is the most common severe autosomal recessive disorder in the Caucasian population with an overall incidence of approximately 1 in 3500 live births. [8][9][10] Although patients' life expectancy has greatly improved over past decades, CF remains a severe disease, allowing prenatal diagnosis when both parents are known carriers for CF mutations or when abnormal ultrasound signs are detected during pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

et al. 2010

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Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations is performed as a first step and, in certain situations, such as when a frequent CF mutation is found in the fetus, the increased risk of CF justifies an in-depth study of the second allele. To determine the contribution of large CFTR gene rearrangements in such cases, detected using a semiquantitative fluorescent multiplex PCR (QFM-PCR) assay, we collated data on 669 referrals related to suspicion of CF in fetuses from 1998 to 2009. Deletions were found in 5/70 cases in which QFM-PCR was applied, dele19, dele22_23, dele2_6b, dele14b_15 and dele6a_6b, of which the last three remain undescribed. In 3/5 cases, hyperechogenicity was associated with dilatation and/or gallbladder anomalies. Of the total cases of CF recognized in the subgroup of first-hand referrals, deletions represent 16.7% of CF alleles. Our study thus strengthens the need to consider large CFTR gene rearrangements in the diagnosis strategy of fetal bowel anomalies, in particular in the presence of multiple anomalies.

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Prognostic implications of fetal echogenic bowel

Cited by 119 publications

References 10 publications

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Cystic fibrosis and intrauterine death

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

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