Literature DB >> 8828441

Bowel abnormalities in the fetus--correlation of prenatal ultrasonographic findings with outcome.

J E Corteville1, D L Gray, J C Langer.   

Abstract

OBJECTIVE: Our purpose was to correlate ultrasonographic findings with postnatal outcome in cases of fetal bowel pathologic disorders detected by either prenatal evaluation or diagnosed in the neonatal period. STUDY
DESIGN: A total of 16,471 consecutive fetuses were scanned in the midtrimester or later. Fetuses were included in the study group if the prenatal ultrasonographic evaluation suggested gastrointestinal pathologic features or if gastrointestinal pathologic features were identified by postnatal evaluation. Prenatal ultrasonographic findings and postnatal outcome were collected by chart review. Prenatal ultrasonographic findings were compared with outcome. Results were compared by Fisher's exact test. Sensitivity and positive predictive values were determined.
RESULTS: Of the 16,471 fetuses scanned, 15,090 (91.6%) had complete postnatal follow-up. Eighty-nine fetuses had a bowel lesion suspected by prenatal ultrasonography. Twenty-two had dilated bowel distal to the duodenum, 33 had isolated hyperechoic bowel, 20 had ascites, and 14 had a cystic abdominal mass. Twenty-two fetuses (22/89 or 25%) were found at neonatal evaluation to have a gastrointestinal lesion. In those fetuses with small-bowel lesions, the sensitivity of ultrasonography was 100% and the positive predictive value was 72.7%. For large-bowel lesions the sensitivity of ultrasonography was only 7.7%, and the positive predictive value was 18%. No ultrasonographic parameter could unequivocally differentiate between the normal and abnormal outcome groups, but progressive bowel dilatation in the third trimester and hyperperistalsis with a dilated bowel loop were frequently found in the cases of small bowel obstruction. Four of the cases of dilated bowel (18.2%) were related to cystic fibrosis.
CONCLUSION: Bowel abnormalities in the fetus are manifest in diverse ultrasonographic findings, making accurate prediction of lesions difficult. The sensitivity of prenatal ultrasonography to detect large-bowel lesions was poor, although it was 100% sensitive in the detection of small-bowel lesions. Cystic fibrosis should be considered in all fetuses with bowel abnormalities suspected on prenatal ultrasonography.

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Mesh:

Year:  1996        PMID: 8828441     DOI: 10.1053/ob.1996.v175.a74412

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


  12 in total

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

Authors:  Alix de Becdelièvre; Catherine Costa; Annick LeFloch; Marie Legendre; Jean-Marie Jouannic; Jacqueline Vigneron; Jean-Luc Bresson; Stéphanie Gobin; Josiane Martin; Michel Goossens; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

2.  Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Authors:  Alix de Becdelièvre; Catherine Costa; Jean-Marie Jouannic; Annick LeFloch; Irina Giurgea; Josiane Martin; Rachel Médina; Brigitte Boissier; Christine Gameiro; Françoise Muller; Michel Goossens; Corinne Alberti; Emmanuelle Girodon
Journal:  Hum Genet       Date:  2010-12-24       Impact factor: 4.132

3.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

4.  Role of magnetic resonance imaging in the prenatal diagnosis of gastrointestinal fetal anomalies.

Authors:  Lucia Manganaro; Matteo Saldari; Silvia Bernardo; Valeria Vinci; Camilla Aliberti; Paolo Sollazzo; Antonella Giancotti; Federica Capozza; Maria G Porpora; Denis A Cozzi; Carlo Catalano
Journal:  Radiol Med       Date:  2014-10-28       Impact factor: 3.469

5.  Update and Review: Cystic Fibrosis.

Authors:  T Brown; E L Schwind
Journal:  J Genet Couns       Date:  1999-06       Impact factor: 2.537

6.  Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Authors:  F Muller; M Dommergues; B Simon-Bouy; C Ferec; J F Oury; M C Aubry; R Bessis; E Vuillard; E Denamur; T Bienvenu; J L Serre
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

7.  Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

Authors:  S B Freeman; C P Torfs; P A Romitti; M H Royle; C Druschel; C A Hobbs; S L Sherman
Journal:  Clin Genet       Date:  2008-11-17       Impact factor: 4.438

8.  Evaluation of the fetal abdomen by magnetic resonance imaging. Part 1: malformations of the abdominal cavity.

Authors:  Ana Paula Pinho Matos; Luciana de Barros Duarte; Pedro Teixeira Castro; Pedro Daltro; Heron Werner Júnior; Edward Araujo Júnior
Journal:  Radiol Bras       Date:  2018 Mar-Apr

9.  Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Authors:  Chadia Mekki; Abdel Aissat; Véronique Mirlesse; Sophie Mayer Lacrosniere; Elsa Eche; Annick Le Floch; Sandra Whalen; Cecile Prud'Homme; Christelle Remus; Benoit Funalot; Vanina Castaigne; Pascale Fanen; Alix de Becdelièvre
Journal:  Genes (Basel)       Date:  2021-04-29       Impact factor: 4.096

Review 10.  Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Authors:  Samuel M Moskowitz; James F Chmiel; Darci L Sternen; Edith Cheng; Ronald L Gibson; Susan G Marshall; Garry R Cutting
Journal:  Genet Med       Date:  2008-12       Impact factor: 8.822

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