Etiology and Outcome of Fetal Echogenic Bowel

Kesrouani, Assaad; Gadrey, Jean; Müller, Françoise; Denamur, E; Vuillard, E.; Garel, Catherine; Delezoïde, Anne Lise; Eydoux, Patrice; Tachdjian, G.; Lebon, Pierre; Sibony, Olivier; Bauman, Clarisse; Oury, Jean‐François; Luton, Dominique

doi:10.1159/000070803

Cited by 17 publications

(5 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This disease is now a well‐known example of a pathology that can be diagnosed before birth following ultrasonographic (US) detection of suggestive signs. In recent years, fetal echogenic bowel (FEB) has been clearly associated with the in utero diagnosis of CF . The situation is less clear for other US signs that have inconsistently been reported to be associated with CF.…”

Section: Introductionmentioning

confidence: 99%

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

et al. 2011

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

et al. 2011

View full text Add to dashboard Cite

show abstract

“…43 In addition to abnormal chromosome numbers and structure, chromosomal microdeletions or microduplications may contribute to the pathogenesis of fetal echogenic bowel. 3 Our data showed that both karyotyping and CMA are effective to detect chromosomal aneuploidy; however, CMA may identify the origin, fragment size and pathogenicity of the supernumerary marker chromosome, which facilitates the precision evaluation of the prognosis in fetuses with echogenic bowel during the genetic counseling. 11 Previous studies have shown that CNV, a risk factor for complicated developmental malformations, 44,45 is a major contributor to fetal echogenic bowel.…”

Section: Discussionmentioning

confidence: 80%

“…2 The majority of FEB is considered as non-specific ultrasound features, which may attribute to intestinal hypoperistalsis. 3 However, this disorder is also reported to be linked with an increased risk of chromosomal abnormality, intrauterine infections, cystic fibrosis, congenital bowel abnormality, intrauterine growth restriction, and fetal mortality. 4 In addition, the clinical significance of FEB is reported to vary in the echogenic intensity, 5 and higher echogenic intensity predicts poorer pregnant outcomes.…”

Section: Introductionmentioning

confidence: 99%

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Fan¹,

Huang²,

Lin³

et al. 2021

RMHP

View full text Add to dashboard Cite

Background Fetal echogenic bowel (FEB) is associated with an increased risk of poor pregnant outcomes; however, karyotyping fails to detect copy number variations (CNVs) in FEB. This study aimed to evaluate the performance of chromosomal microarray analysis (CMA) for detection of FEB. Methods The medical records of 147 pregnant women with FEB recruited during December 2015 to December 2018 were retrospectively reviewed, and prenatal samples were collected for karyotyping and CMA. The detection of chromosomal abnormality was compared between karyotyping and CMA. Results Karyotyping identified eight cases with abnormal karyotypes (5.44% prevalence), including four fetuses with pathogenic aneuploidy, three with chromosome polymorphism and one with balanced chromosome translocation. CMA identified 13 abnormal CNVs (8.84% prevalence), including 4 fetuses with pathogenic aneuploidy as detected by karyotyping and 9 additional CNVs with normal karyotypes; however, CMA failed to detect chromosome polymorphism and balanced chromosome translocation. In fetuses with isolated FEB, no cases presented pathogenic findings and CMA detected two cases with variants of uncertain significance (VOUS). In cases presenting FEB along with other ultrasound abnormalities, CMA detected three cases with pathogenic CNVs and four cases with VOUS in addition to four cases with aneuploidy. There was no significant difference in the detection of abnormal CNVs between the fetuses with echogenic bowel alone and along with other ultrasound abnormalities (10% vs 8.67%, P > 0.05). Except 9 fetuses lost to the follow-up, the other 138 fetuses with echogenic bowel were successfully followed up. Pregnancy was terminated in 5 fetuses with chromosomal abnormality, 2 with pathogenic CNVs and 1 with VOUS, and other 16 with normal karyotypes and CMA findings but showing ultrasound abnormalities or multiple malformations. Conclusion Isolated FEB is associated with a good prognosis, and a satisfactory pregnant outcome is expected for fetuses with echogenic bowel that are negative for chromosomal anomalies and other severe structure abnormalities. CMA shows an important value in the genetic diagnosis of FEB. As a supplement to karyotyping, CMA may improve the accuracy of prenatal diagnosis of fetal intestinal malformations in pregnant women with FEB.

show abstract

“…Echogenic bowel is a sonographic soft marker which is associated with a favourable outcome in majority of cases [7]. However, in up to 3% fetuses it is representative of a gut malformation, which may become evident antenatally at later gestation as dilated bowel or may be a postnatal diagnosis [8]. Hirschsprung disease has been reported to present with echogenic bowel in antenatal period in 2/22 cases in one retrospective study [9].…”

Section: Discussionmentioning

confidence: 99%

Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel

Nerakh

Tandon

Dalal

et al. 2019

Journal of Fetal Medicine

View full text Add to dashboard Cite

This is report of a case of RET associated Hirschsprung disease in a fetus diagnosed using exome sequencing. The fetus initially presented with echogenic bowel at 16 weeks with maternal first trimester serum screen showing increased risk for Trisomy 21. Amniotic fluid karyotype, ΔF508 CFTR genotype and maternal TORCH serology were normal. Subsequent ultrasonograms showed dilated bowel loops, predominantly large bowel. Following delivery at 24 weeks, a post-mortem examination was performed. Dilated bowel was confirmed with no structural gut abnormality and no other dysmorphic finding. Histopathology revealed agangliosis confirming a diagnosis of Hirschsprung disease. Exome sequencing done on fetal DNA from amniotic fluid revealed a putative pathogenic heterozygous c.1438G > A variant in exon 7 of RET gene, which was inherited from the asymptomatic mother. This enabled genetic counseling and prenatal diagnosis in subsequent pregnancy.

show abstract

Etiology and Outcome of Fetal Echogenic Bowel

Cited by 17 publications

References 22 publications

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel

Contact Info

Product

Resources

About