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Congenital Diarrhea: A Case Report on Challenges in Both Prenatal and Postnatal Diagnosis
H Heinrich1,2, E Pajkrt1,2, M M Tabbers2,3,4
1Department of Obstetrics and Gynaecology, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands, uva.nl.
Abstract:
Prenatal recognition of congenital diarrhea and subsequent diagnosis can facilitate neonatal monitoring and prompt initiation of lifesaving postnatal treatment. We describe two cases with a congenital diarrheal disorder (CDD), highlighting the prenatal course and the diagnostic process. In cases of fetal dilated bowel loops, particularly with a characteristic honeycomb appearance, prenatal genetic testing for CDDs should be considered. After birth, distinguishing diarrhea from urine may be challenging in neonates with suspected congenital diarrhea. Therefore, urinary catheterization or a urine collection bag is recommended to ensure accurate assessment.
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