| Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. | |
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MedLine Citation:
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PMID: 16451140 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testing. Diagnostic studies included DHCR7 mutation analysis in chorionic villus samples, amniotic fluid sterol analysis and serial measurements of oestriol (E3), pregnanetriol (PT), 7-dehydropregnanetriol (7DHPT) and 8-dehydroesteriol (8DHE3) concentrations in maternal urine samples obtained between 9 and 20 weeks of gestation. All tests were diagnostic and revealed nine unaffected foetuses (two normal homozygotes and seven DHCR7 heterozygotes) and one affected foetus. In the affected pregnancy, 7DHC and 8DHC in amniotic fluid were 9.87 and 3.7 microg/ml, respectively [reference range (RR) 0.0026 +/- 0.0015 microg/ml and not detectable, respectively] and maternal urinary steroid analyses showed increased ratios of 7DHPT/PT and 8DHE3/E3 of 0.74 and 1.7, respectively (RR 0-0.0147 and 0-0.019). In the heterozygous foetuses, 7DHPT/PT and 8DHE3/E3 ratios did not exceed those found in 48 normal controls. This is the first series of prenatal diagnostic testing for SLOS where non-invasive biochemical testing was performed in tandem with invasive diagnostic testing. We conclude that steroid measurements in maternal urine are a reliable means of prenatal diagnosis for SLOS. |
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Authors:
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A Jezela-Stanek; E M Małunowicz; E Ciara; E Popowska; B Goryluk-Kozakiewicz; K Spodar; M Czerwiecka; J Jezuita; M J M Nowaczyk; M Krajewska-Walasek |
Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical genetics Volume: 69 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 2006 Jan |
Date Detail:
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Created Date: 2006-02-02 Completed Date: 2006-06-12 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 77-85 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland. stanek@pharmanet.com.pl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniotic Fluid / metabolism Chorionic Villi Sampling Dehydrocholesterols / metabolism, urine* Estriol / metabolism, urine Family Female Gas Chromatography-Mass Spectrometry Genotype Humans Oxidoreductases Acting on CH-CH Group Donors / genetics, metabolism, urine* Phenotype Pregnancy Pregnanetriol / metabolism, urine Prenatal Diagnosis* Smith-Lemli-Opitz Syndrome / diagnosis*, genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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0/Dehydrocholesterols; 27178-64-9/Pregnanetriol; 434-16-2/7-dehydrocholesterol; 50-27-1/Estriol; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.1.21/7-dehydrocholesterol reductase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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