Hereditary multiple intestinal atresia—ultrasound findings and outcome of pregnancy in an affected case
| Autor: | N. K. Ives, P. Chamberlain, Nicky Manning, Patricia A. Boyd, T. Tsang, S. Gould |
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| Rok vydání: | 1994 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty medicine.medical_treatment Intestinal Atresia Prenatal diagnosis Ultrasonography Prenatal Fatal Outcome Pregnancy Laparotomy medicine Humans Genetics (clinical) medicine.diagnostic_test business.industry Obstetrics Infant Newborn Pregnancy Outcome Obstetrics and Gynecology Abdominal distension medicine.disease Surgery Bowel obstruction medicine.anatomical_structure Atresia Amniocentesis Abdomen Female medicine.symptom business |
| Zdroj: | Prenatal Diagnosis. 14:61-64 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970140111 |
| Popis: | A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non-consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post-mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed. |
| Databáze: | OpenAIRE |
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