{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:02:22Z","timestamp":1790514142014,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2001,10,23]],"date-time":"2001-10-23T00:00:00Z","timestamp":1003795200000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the occurrence of multiple acyl\u2010CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non\u2010consanguineous couple. In the first pregnancy, the maternal serum \u03b1\u2010fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of \u03b1\u2010fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. <jats:italic>In vitro<\/jats:italic> metabolic studies on cultured amniocytes confirmed the diagnosis. A follow\u2010up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated \u03b1\u2010fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated \u03b1\u2010fetoprotein and cystic renal disease. Early growth delay may be an additional feature. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.157","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:17:12Z","timestamp":1030310232000},"page":"856-859","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal diagnosis of multiple acyl\u2010CoA dehydrogenase deficiency: association with elevated \u03b1\u2010fetoprotein and cystic renal changes"],"prefix":"10.1002","volume":"21","author":[{"given":"Christian A.","family":"Chisholm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fotini","family":"Vavelidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Lovell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Sweetman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles R.","family":"Roe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane S.","family":"Roe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank E.","family":"Frerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,10,23]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811501"},{"key":"e_1_2_1_3_1","first-page":"589","article-title":"Postnatal and antenatal laboratory diagnosis of glutaric aciduria type II in a South African family","volume":"71","author":"Henderson HE","year":"1987","journal-title":"S Afr Med J"},{"key":"e_1_2_1_4_1","first-page":"373","article-title":"Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: report of prenatal diagnosis and confirmation of autosomal recessive inheritance","volume":"29","author":"Hockey A","year":"1993","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443213"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199003000-00024"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)91929-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(76)90060-7"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2911"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2758"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199604000-00020"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199111000-00009"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.157","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T11:31:22Z","timestamp":1700307082000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2001,10]]}},"alternative-id":["10.1002\/pd.157"],"URL":"https:\/\/doi.org\/10.1002\/pd.157","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10]]}}}