Document Detail

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
MedLine Citation:
PMID:  16451140     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  69     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-02-02     Completed Date:  2006-06-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  77-85     Citation Subset:  IM    
Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
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MeSH Terms
Amniotic Fluid / metabolism
Chorionic Villi Sampling
Dehydrocholesterols / metabolism,  urine*
Estriol / metabolism,  urine
Gas Chromatography-Mass Spectrometry
Oxidoreductases Acting on CH-CH Group Donors / genetics,  metabolism,  urine*
Pregnanetriol / metabolism,  urine
Prenatal Diagnosis*
Smith-Lemli-Opitz Syndrome / diagnosis*,  genetics,  metabolism
Reg. No./Substance:
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 reductase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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