Postnatal outcome of children with antenatal colonic hyperechogenicity

ObjectiveTo evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis.MethodWe carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria-cystinuria (LC), hypotonia-cystinuria syndrome (HC), or lysinuric protein intolerance (LPI).ResultsAmong the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow-up, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia-cystinuria syndrome.ConclusionManagement of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making. What's already known about this topic ?Currently, colonic hyperechogenicity is a sign of lysinuria-cystinuria, but it can also be a sign of other disorders with a more severe prognosis.What does this study add?In this retrospective study, among fetuses with hyperechoic colon, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric protein intolerance, and 4% with hypotonia-cystinuria syndrome. These data are likely to modify the management of patients in whom a hyperechogenic fetal colon is identified.