Prenatal Diagnosis of Enterolithiasis in 20 Cases

Background: Enterolithiasis is a sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel. Objectives: We report on a series of 20 cases with enterolithiasis diagnosed prenatally and illustrate the spectrum of associated malformations. Method: This was a retrospective study involving 20 fetuses with enterolithiasis at two large tertiary referral centers in Germany over a 17-year period (2000-2017). Results: Median diagnosis was made with ultrasound at 18+2 weeks of gestation (IQR(25,75): 14+5, 26+5). Additional malformations included urogenital malformations (cloacal malformation in 7/20 fetuses [35%] and kidney defects in 7/20 fetuses [35%]), cardiac malformations (3/20 fetuses [15%]), and vertebral malformations (5/20 fetuses [25%]). Of 20 fetuses, 14 could be attributed to the anorectal malformation spectrum, 3/20 fetuses presented with caudal regression syndrome, and 1 fetus with bilateral kidney agenesis, congenital diaphragmatic aplasia, and enterovesical fistula, respectively. Conclusion: Enterolithiasis is a rare prenatal sonographic feature. Because of the frequent occurrence of uro-recto-genital malformations, thorough prenatal counseling should be performed