{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:56Z","timestamp":1792167236791,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Smith\u2013Lemli\u2013Opitz (SLOS), or RSH syndrome, is an autosomal recessive deficiency of 7\u2010dehydrocholesterol reductase (DHCR7) resulting in an accumulation of 7\u2010 and 8\u2010dehydrocholesterol (7\u2010 and 8\u2010DHC) in tissues and body fluids. At birth patients have variable malformations of CNS, heart, kidney, genitalia, and limbs, which may be life\u2010limiting. In later course, psychomotor and mental retardation and behavior abnormalities become evident. Prenatally SLOS can be suspected on the basis of malformations and intrauterine growth retardation (IUGR) in prenatal ultrasonography and reduced maternal free estriol in serum. The diagnosis is confirmed by sterol analysis in a chorionic villus biopsy or amniotic fluid (AF). In this study, we evaluated the predictive value of the above mentioned criteria in combination with family history by quantification of sterols in AF in pregnancies with either a family history, ultrasonographical abnormalities typical for SLOS, or reduced maternal serum unconjugated estriol (MSuE3). The relative frequency of SLOS in fetuses with an affected sibling was 0.23, as to be expected for an autosomal recessive disease. The probability for SLOS was &lt;0.6% when neither an affected sib nor more than one typical SLOS malformation was present. For safety reasons and for cost\u2010effectiveness we recommend careful evaluation of history, MSuE3, and clinical presentation before determining sterols in AF. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35837","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T04:12:06Z","timestamp":1364357526000},"page":"1008-1011","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal Presentation and Diagnostic Evaluation of Suspected Smith\u2013<scp>L<\/scp>emli\u2013<scp>O<\/scp>pitz (<scp>RSH<\/scp>) Syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Dorothea","family":"Haas","sequence":"first","affiliation":[{"name":"Division of Inborn Metabolic Diseases, Department of General Pediatrics University Children's Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Haege","sequence":"additional","affiliation":[{"name":"Division of Inborn Metabolic Diseases, Department of General Pediatrics University Children's Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Division of Inborn Metabolic Diseases, Department of General Pediatrics University Children's Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Burgard","sequence":"additional","affiliation":[{"name":"Division of Inborn Metabolic Diseases, Department of General Pediatrics University Children's Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0006-341X.1999.00597.x"},{"key":"e_1_2_6_3_1","first-page":"CD003252","article-title":"Amniocentesis and chorionic villus sampling for prenatal diagnosis","author":"Alfirevic Z","year":"2003","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1254"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20448"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2007.100644"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06038-4"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<376::AID-AJMG4>3.0.CO;2-B"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.419"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.7.465"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199605000-00012"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31413"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31901"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.3.1157"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30898"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199401133300205"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35837","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35837","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:30:12Z","timestamp":1698629412000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35837"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,26]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35837"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35837","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,26]]}}}