| Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. | |
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MedLine Citation:
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PMID: 19418464 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To document the performance of second trimester maternal urine and serum steroid measurements for detecting fetal steroid sulfatase deficiency (STSD). METHODS: We studied detection rate and false positive rate (DR, FPR) of analytes in maternal urine [combinations of 16alpha-OH-dehydroepiandrosterone sulfate (16alpha-OH-DHEAS), 11beta-hydroxyandrosterone, total estriol] and serum [combinations of 16alpha-OH-DHEAS, 11beta-hydroxyandrosterone, total estriol, unconjugated estriol (uE3)]. Samples were obtained from pregnancies which were screen positive for Smith-Lemli-Opitz syndrome (SLOS). RESULTS: Among 1 079 301 pregnancies, 3083 (0.29%) were screen positive for SLOS. Urine and/or serum samples were available from 917 viable pregnancies with known gender. We assigned likelihood ratios (LRs) to steroid measurements from male fetuses with known STSD and unaffected female fetuses. An LR > or = 100 was present in urine from 84 of 86 STSD pregnancies (98% DR, 95% CI 92-99), along with 0 of 198 pregnancies with normal female fetuses (0.0% FPR, CI 0-1.9). LRs were > or = 100 in 4 of 129 female fetuses with major abnormalities (3% FPR). In maternal serum, steroid measurements performed less effectively, achieving a 71% DR for STSD at a 1.6% FPR. CONCLUSION: Maternal urine steroid measurements are effective for detecting STSD, including those with point mutations and those with full deletions. |
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Authors:
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Josep Marcos; Wendy Y Craig; Glenn E Palomaki; Edward M Kloza; James E Haddow; Marie Roberson; Linda A Bradley; Cedric H L Shackleton |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
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Title: Prenatal diagnosis Volume: 29 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-30 Completed Date: 2009-10-27 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 771-80 Citation Subset: IM |
Affiliation:
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Children's Hospital Oakland Research Institute, Oakland, CA, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Androsterone
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analogs & derivatives*,
blood,
metabolism,
urine Dehydroepiandrosterone / analogs & derivatives*, blood, metabolism, urine Estriol / blood, metabolism*, urine False Positive Reactions Female Gas Chromatography-Mass Spectrometry Gene Deletion Humans Ichthyosis, X-Linked* Male Point Mutation Predictive Value of Tests Pregnancy Pregnancy Trimester, Second / blood*, urine* Prenatal Diagnosis Smith-Lemli-Opitz Syndrome / blood, diagnosis*, urine Steryl-Sulfatase / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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HD 38940/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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28905-55-7/16-hydroxydehydroepiandrosterone sulfate; 50-27-1/Estriol; 53-41-8/Androsterone; 53-43-0/Dehydroepiandrosterone; 57-61-4/11 beta-hydroxyandrosterone; EC 3.1.6.2/Steryl-Sulfatase |
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