The clinical significance of fetal echogenic bowel

OBJECTIVE: The purpose of this study was to determine the incidence of cyst ic fibrosis, aneuploidy, and intrauterine infection with toxoplasmosis and cytomegalovirus In second-trimester fetuses with the sonographic finding of echogenic bowel. STUDY DESIGN: All cases of echogenic bowel that were diagnosed in our ultra sound unit from 1993 to 2000 were identified, Only cases in which bowel ech ogenicity was as bright as bone with no associated major fetal anomalies we re included. Patients who were referred from other hospitals were excluded. Echogencity was classified as focal or multifocal, Fetal karyotypes, cysti c fibrosis carrier testing, and maternal serologic test results were determ ined. RESULTS: One hundred seventy-five fetuses in 171 pregnancies met inclusion criteria. Cystic fibrosis mutations were identified in 7 of 138 mothers (5% ) and 9 of 86 fathers (10.5%) who were tested. Five fetuses were affected w ith cystic fibrosis. Fetal karyotype was obtained In 139 cases, and autosom al trisomy was diagnosed in 5 cases (3.6%). One hundred sixty-six patients were tested for toxoplasmosis, and 111 patients were tested for cytomegalov irus. There were no cases of congenital toxoplasmosis. There was maternal s erologic and fetal pathologic evidence of cytomegalovirus infection in 1 ca se. In all cases of cystic fibrosis and aneuploidy, echogenicity was multif ocal; in the case of cytomegalovirus, echogenicity was focal. CONCLUSION: In our population, mid-trimester fetal echogenic bowel was asso ciated with a high prevalence of cystic fibrosis, aneuploidy, and cytomegal ovirus (11/175 fetuses [6.3%]). This information should be considered when counseling patients after mid-trimester echogenic bowel is diagnosed.