{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T15:55:01Z","timestamp":1790783701359,"version":"4.1.0"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2026-0017_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the prenatal imaging findings and genetic diagnosis of molybdenum cofactor deficiency (MoCD) in two consecutive pregnancies, highlighting its variable prenatal presentation and diagnostic challenges.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2026-0017_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>MoCD is a rare autosomal recessive metabolic disorder associated with severe neurological impairment and usually diagnosed postnatally. We report a consanguineous couple with two consecutive affected pregnancies. In the first, progressive ventriculomegaly and posterior fossa abnormalities were detected in the third trimester, raising suspicion of an underlying metabolic disorder, which was confirmed by genetic testing. In a subsequent monochorionic monoamniotic twin pregnancy, early imaging was unremarkable, but targeted genetic testing confirmed recurrence in both fetuses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2026-0017_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>MoCD may present prenatally with progressive central nervous system abnormalities. Combined imaging and molecular testing are essential for diagnosis, particularly in consanguineous couples, enabling timely counseling and reproductive decision-making.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2026-0017","type":"journal-article","created":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:56:38Z","timestamp":1790769398000},"source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of molybdenum cofactor deficiency"],"prefix":"10.1515","volume":"15","author":[{"given":"Maria Teresa","family":"Ara\u00fajo","sequence":"first","affiliation":[{"name":"Maternidade Dr. Alfredo da Costa, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Vicente","sequence":"additional","affiliation":[{"name":"Maternidade Dr. Alfredo da Costa, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Hospital Dona Estef\u00e2nia, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"},{"name":"Centro de Responsabilidade Integrado\u00a0\u2013\u00a0Medicina e Cirurgia Fetal, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel","family":"Carocha","sequence":"additional","affiliation":[{"name":"Maternidade Dr. Alfredo da Costa, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"},{"name":"Centro de Responsabilidade Integrado\u00a0\u2013\u00a0Medicina e Cirurgia Fetal, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"Hospital Dona Estef\u00e2nia, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Martins","sequence":"additional","affiliation":[{"name":"Hospital Dona Estef\u00e2nia, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Cohen","sequence":"additional","affiliation":[{"name":"Maternidade Dr. Alfredo da Costa, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"},{"name":"Centro de Responsabilidade Integrado\u00a0\u2013\u00a0Medicina e Cirurgia Fetal, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia","family":"Rijo","sequence":"additional","affiliation":[{"name":"Maternidade Dr. Alfredo da Costa, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"},{"name":"Centro de Responsabilidade Integrado\u00a0\u2013\u00a0Medicina e Cirurgia Fetal, ULS S\u00e3o Jos\u00e9 , Lisbon , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,9,30]]},"reference":[{"key":"2026093014560106407_j_crpm-2026-0017_ref_001","doi-asserted-by":"crossref","unstructured":"Pramio, J, Grings, M, da Rosa, AG, Ribeiro, RT, Glanzel, NM, Signori, MF, et al.. Sulfite impairs bioenergetics and redox status in neonatal rat brain: insights into the early neuropathophysiology of isolated sulfite oxidase and molybdenum cofactor deficiencies. Cell Mol Neurobiol 2023;43:2895\u2013907. https:\/\/doi.org\/10.1007\/s10571-023-01328-6.","DOI":"10.1007\/s10571-023-01328-6"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_002","doi-asserted-by":"crossref","unstructured":"Schwarz, G. Molybdenum cofactor and human disease. Curr Opin Chem Biol 2016;31:179\u201387. https:\/\/doi.org\/10.1016\/j.cbpa.2016.03.016.","DOI":"10.1016\/j.cbpa.2016.03.016"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_003","doi-asserted-by":"crossref","unstructured":"Mart\u00ednez, MCA, Cazorla, E, C\u00e1novas, E, Anniuk, K, Cores, AE, Serrano, AM. Molybdenum cofactor deficiency: mega cisterna magna in two consecutive pregnancies and review of the literature. Appl Clin Genet 2020;13:49\u201355. https:\/\/doi.org\/10.2147\/TACG.S239917.","DOI":"10.2147\/TACG.S239917"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_006","doi-asserted-by":"crossref","unstructured":"Reiss, J, Bonin, M, Schwegler, H, Sass, JO, Garattini, E, Wagner, S, et al.. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab 2005;85:12\u201320. https:\/\/doi.org\/10.1016\/j.ymgme.2005.01.008.","DOI":"10.1016\/j.ymgme.2005.01.008"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_007","doi-asserted-by":"crossref","unstructured":"Higuchi, R, Sugimoto, T, Tamura, A, Kioka, N, Tsuno, Y, Higa, A, et al.. Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. Pediatrics 2014;133. https:\/\/doi.org\/10.1542\/peds.2013-0935.","DOI":"10.1542\/peds.2013-0935"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_005","doi-asserted-by":"crossref","unstructured":"Carmi-Nawi, N, Malinger, G, Mandel, H, Ichida, K, Lerman-Sagie, T, Lev, D. Prenatal brain disruption in molybdenum cofactor deficiency. J\u00a0Child Neurol 2011;26:460\u20134. https:\/\/doi.org\/10.1177\/0883073810383017.","DOI":"10.1177\/0883073810383017"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_008","doi-asserted-by":"crossref","unstructured":"Gupta, A, Aneja, A, Bahl, N, Arora, R, Sehgal, RR, Saini, P. Heterokaryotypic monochorionic twin pregnancy: new perspective. J\u00a0Fetal Med 2024;11:36\u201342. https:\/\/doi.org\/10.1055\/s-0044-1780493.","DOI":"10.1055\/s-0044-1780493"},{"key":"2026093014560106407_j_crpm-2026-0017_ref_009","doi-asserted-by":"crossref","unstructured":"Reiss, J, Christensen, E, Kurlemann, G, Zabot, M-T, Dorche, C. 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