{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T11:29:13Z","timestamp":1753356553030,"version":"3.40.5"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T00:00:00Z","timestamp":1701820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria\u2010cystinuria, but which may also be a sign of other disorders with a more severe prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We carried out a French multi\u2010centric 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\u2010cystinuria (LC), hypotonia\u2010cystinuria syndrome (HC), or lysinuric protein intolerance (LPI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow\u2010up, we identified 63% of children with lysinuria\u2010cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia\u2010cystinuria syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Management 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6475","type":"journal-article","created":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T17:28:43Z","timestamp":1701883723000},"page":"28-34","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Postnatal outcome of children with antenatal colonic hyperechogenicity"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3530-6328","authenticated-orcid":false,"given":"Florent","family":"Fuchs","sequence":"first","affiliation":[{"name":"CHU de Montpellier Gynecology and Obstetrics  Montpellier France"},{"name":"Desbrest Institute of Epidemiology and Public Health (IDESP) University Montpellier INSERM  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"CHU de Montpellier Gynecology and Obstetrics  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eve","family":"Mousty","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de N\u00eemes Gynecology and Obstetrics Nimes  Nimes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denis","family":"Morin","sequence":"additional","affiliation":[{"name":"CHU de Montpellier Pediatric Nephrology  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"CHU de Montpellier Pediatric Neurology  Montpellier France"},{"name":"Institute for Neurosciences of Montpellier University Montpellier INSERM  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance F.","family":"Wells","sequence":"additional","affiliation":[{"name":"Medical Genetics Department CHU de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Prodhomme","sequence":"additional","affiliation":[{"name":"CHU de Montpellier Radiologie P\u00e9diatrique  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Benoist","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker\u2010Enfants Malades, Biochimie M\u00e9tabolomique et Prot\u00e9omique  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1941-5516","authenticated-orcid":false,"given":"Sophie","family":"Dreux","sequence":"additional","affiliation":[{"name":"H\u00f4pital Universitaire Robert Debr\u00e9 Laboratoire de Biochimie\u2010Hormonologie  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Michel","family":"Faure","sequence":"additional","affiliation":[{"name":"CHU de Montpellier Gynecology and Obstetrics  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[{"name":"Institute for Neurosciences of Montpellier University Montpellier INSERM  Montpellier France"},{"name":"Medical Genetics Department CHU de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,6]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"StringerMD ThorntonJG MasonGC.Hyperechogenic Fetal Bowel;1996. 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