PMID: 11920891Mar 29, 2002Paper

Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases

Prenatal Diagnosis
B Simon-BouyFrench Collaborative Group

Abstract

Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1% to 1.8% of foetuses. It has been described as a normal variant and has often been associated with severe diseases, notably Down syndrome. The aim of the present study was to determine the risk of trisomy 21 in a prospective study of 680 fetuses with hyperechogenic foetal bowel. Karyotyping was performed on amniotic cells in 632 cases, and outcome was known in 655 cases. A 2.5% risk of Down syndrome and a 1% risk of other severe chromosomal anomalies were observed. Hyperechogenicity was isolated in 11/17 Down syndrome cases, and associated with other ultrasound anomalies in all seven cases of severe chromosomal anomalies. In conclusion, fetal bowel hyperechogenicity indicates a risk of chromosomal anomalies ten-fold higher than that expected on the basis of maternal age, therefore justifying invasive procedures.

References

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Citations

Jul 13, 2002·Prenatal Diagnosis
Jan 23, 2009·Journal of Pediatric Surgery·Melissa J RuizRobert A Cowles
Aug 19, 2003·American Journal of Medical Genetics. Part a·B Simon-BouyUNKNOWN French Collaborative Group
Feb 6, 2007·Prenatal Diagnosis·Xavier CarcopinoClaude D'ercole
Nov 5, 2011·Prenatal Diagnosis·Ingrid DuguépérouxClaude Férec
Apr 6, 2004·Obstetrics and Gynecology Clinics of North America·Meredith Rochon, Keith Eddleman
Aug 28, 2013·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Rasha Karayanni-AmmuriZvi Leibovitz
Oct 28, 2015·Journal of Perinatal Medicine·Alaa EbrashyMilan Stanojevic
Jun 26, 2021·American Journal of Obstetrics and Gynecology·UNKNOWN Society for Maternal-Fetal Medicine (SMFM)Joseph R Biggio

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