Original ArticlesCystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel☆
Section snippets
Materials and methods
Two hundred forty-four cases of echogenic bowel were tested for cystic fibrosis, chromosome abnormalities, or both, during a 2-year period (May 1992 to April 1994) at Genzyme Genetics, Framingham, Massachusetts. Fetal bowel is considered hyperechoic if it has echogenicity similar to or greater than the surrounding bone. The diagnosis of echogenic bowel was made by the physician submitting the sample, and cases were referred by over 100 physicians.
Blood, cheek brush, or amniotic fluid samples
Results
A total of 244 families were tested for cystic fibrosis because of a second-trimester sonographic diagnosis of fetal echogenic bowel. The ethnic background of patients tested for cystic fibrosis is shown in Table 1. The fetus was found to be a carrier of one cystic fibrosis mutation in nine of 113 cases in which fetal testing was done (8%). In five cases, one parent was found to carry a mutation and the other parent had no mutation identified; in these families the fetus was not tested. There
Discussion
We examined the prevalence of cystic fibrosis and chromosome abnormalities among 244 cases referred to a large genetics laboratory because of a sonographic indication of fetal echogenic bowel. Although our results show a lower incidence of both outcomes than previous studies,1, 2, 7 both conditions were higher than the expected background risk. The prevalence of confirmed cystic fibrosis in our study was 0.8%, or approximately one per 125, 20 times higher than the one per 2500 prevalence in the
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Cited by (39)
Microarray analysis in pregnancies with isolated echogenic bowel
2018, Early Human DevelopmentCitation Excerpt :However, all eight fetuses with aneuploidy yielded additional sonographic anomalies. At 1999 Berlin et al. described a larger cohort of 244 cases [15]. Of 106 fetuses with available karyotype testing, four (2.8%) yielded abnormal results: two cases with trisomy 21, one Klinefelter syndrome and one de-novo apparently balanced 5;12 translocation.
Intestinal Obstruction
2018, Obstetric Imaging: Fetal Diagnosis and Care: Second EditionIntestinal obstruction
2017, Obstetric Imaging: Fetal Diagnosis and Care, 2nd EditionFocus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France
2010, American Journal of Obstetrics and GynecologyCitation Excerpt :Anyway, cases of transient FEB are managed in the same way as the other FEB cases and receive the same evaluation. The risk of CF after a diagnosis of FEB has been extensively studied and varies from 0% to 33.3% in the literature.1-11,26,27 As illustrated in Table 2, the prevalence of CF we observed is among the highest reported in the literature, whereas the prevalences of the other disorders are more consistent with those reported so far.
Controversial ultrasound findings
2004, Obstetrics and Gynecology Clinics of North AmericaCase Series of Acute Meconium Peritonitis Secondary to Perforation of the Ileum in the Antepartum Period
2022, Journal of Clinical Medicine
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Authors Sugarman and Allitto are employees of Genzyme Genetics.