{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:51:36Z","timestamp":1789955496631,"version":"4.0.1"},"reference-count":62,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center. Using an advanced MRI protocol and a 1.5\u2010Tesla magnet, we show radiographic data diagnostic for the holoprosencephaly spectrum, including alobar, semilobar, lobar, middle interhemispheric, and septopreoptic variant. Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. Therefore, this work has implications for the evaluation, diagnosis, management, and genetic counseling that families can receive during a pregnancy.<\/jats:p>","DOI":"10.1002\/ajmg.c.31618","type":"journal-article","created":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T09:52:15Z","timestamp":1526550735000},"page":"206-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Prenatal diagnosis of holoprosencephaly"],"prefix":"10.1002","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6049-8144","authenticated-orcid":false,"given":"Youssef A.","family":"Kousa","sequence":"first","affiliation":[{"name":"Division of Neurology Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adr\u00e9 J.","family":"du Plessis","sequence":"additional","affiliation":[{"name":"Division of Fetal and Transitional Medicine Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Vezina","sequence":"additional","affiliation":[{"name":"Division of Radiology Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"issue":"2","key":"e_1_2_13_2_1","first-page":"431","article-title":"Middle interhemispheric fusion: An unusual variant of holoprosencephaly","volume":"14","author":"Barkovich A. J.","year":"1993","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0097-6"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.037176"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2170"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00154.x"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-03-2012-6129"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20295"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000104278"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.13.11.913"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.34.2.256"},{"key":"e_1_2_13_15_1","first-page":"34","volume-title":"Volpe's neurology of the newborn","author":"du Plessis A.","year":"2017"},{"issue":"1","key":"e_1_2_13_16_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-2-8","article-title":"Holoprosencephaly","volume":"2","author":"Dubourg C.","year":"2007","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.151.2.6709918"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI38937"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30238"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2123"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiographics.13.1.8426929"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900416"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12103"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050861"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30242"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000083897"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32833f56d5"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-011-2260-7"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23598"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200005)20:5<400::AID-PD839>3.0.CO;2-L"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30254"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000037483.31989.B9"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1787"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30249"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420160304"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.154.1.2104699"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30244"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-015-3440-7"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.149.5.1051"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32104"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30233"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200540"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023416"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2851"},{"key":"e_1_2_13_48_1","unstructured":"Pilu G. Malinger G. &Chaoui R.(2013). Holoprosenephaly. Retrieved fromhttp:\/\/www.visuog.com\/Page\/view.jsp?id=-8046330369103247264"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.7.1058"},{"issue":"6","key":"e_1_2_13_50_1","first-page":"1034","article-title":"Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly","volume":"25","author":"Pulitzer S. B.","year":"2004","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005406719292"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.005"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2004.23.6.761"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420340103"},{"issue":"1","key":"e_1_2_13_55_1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S1064-9689(21)00062-3","article-title":"Holoprosencephaly: New concepts","volume":"9","author":"Simon E. M.","year":"2001","journal-title":"Resonance Imaging Clinics of North America"},{"key":"e_1_2_13_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340100567"},{"issue":"1","key":"e_1_2_13_57_1","first-page":"151","article-title":"The middle interhemispheric variant of holoprosencephaly","volume":"23","author":"Simon E. M.","year":"2002","journal-title":"American Journal of Neuroradiology"},{"issue":"10","key":"e_1_2_13_58_1","first-page":"1955","article-title":"Assessment of the deep gray nuclei in holoprosencephaly","volume":"21","author":"Simon E. M.","year":"2000","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_13_59_1","volume-title":"GeneReviews","author":"Solomon B. D.","year":"1993"},{"key":"e_1_2_13_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30232"},{"key":"e_1_2_13_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2208"},{"key":"e_1_2_13_62_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.351140040"},{"key":"e_1_2_13_63_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1999.13050356.x"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31618","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T15:15:17Z","timestamp":1694358917000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,17]]},"references-count":62,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1002\/ajmg.c.31618"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31618","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,17]]},"assertion":[{"value":"2018-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}