{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T21:09:56Z","timestamp":1777756196676,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2004,8,9]],"date-time":"2004-08-09T00:00:00Z","timestamp":1092009600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1\/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21\u2010hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt\u2010wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second\u2010trimester scan in the absence of a family history. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.948","type":"journal-article","created":{"date-parts":[[2004,8,9]],"date-time":"2004-08-09T22:39:09Z","timestamp":1092091149000},"page":"627-630","source":"Crossref","is-referenced-by-count":24,"title":["Sonography in prenatal diagnosis of congenital adrenal hyperplasia"],"prefix":"10.1002","volume":"24","author":[{"given":"Julien","family":"Saada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Ga\u00eblle","family":"Grebille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010C\u00e9cile","family":"Aubry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arash","family":"Rafii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,8,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012391"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(03)00064-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2002.21.1.97"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1093\/clinchem\/48.5.778","article-title":"Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study","volume":"48","author":"Chiu RW","year":"2002","journal-title":"Clin Chem"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.219"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80310-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2002.00803.x"},{"key":"e_1_2_1_9_1","first-page":"52","article-title":"Congenital adrenal hyperplasia: an association with increased fetal nuchal translucency","volume":"58","author":"Flores Anton B","year":"2003","journal-title":"An Pediatr (Barc)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000293739"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.54"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.7.2014"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8072"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199801)18:1<83::AID-PD219>3.0.CO;2-U"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(01)01480-6"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.156.1.1898548"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.21.3.245"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.948","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.948","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T04:38:53Z","timestamp":1700195933000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["10.1002\/pd.948"],"URL":"https:\/\/doi.org\/10.1002\/pd.948","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,8]]}}}