| Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. | |
| | |
MedLine Citation:
|
PMID: 20715120 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS: Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine. RESULTS: Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values < 0.15 MoM, 8 (10.8%) at 0.15-0.20 MoM, and 0 (0%) at > 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1:1230) compared to Hispanics (1:1620) and Asians (1:1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women. CONCLUSION: The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made. |
| | |
Authors:
|
Wendy Y Craig; Marie Roberson; Glenn E Palomaki; Cedric H L Shackleton; Josep Marcos; James E Haddow |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Sep |
Date Detail:
|
Created Date: 2010-09-02 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
|
Languages: eng Pagination: 893-8 Citation Subset: IM |
Copyright Information:
|
(c) 2010 John Wiley & Sons, Ltd. |
Affiliation:
|
Foundation for Blood Research, Scarborough, ME 04070, USA. wcraig@fbr.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
African Americans California / epidemiology European Continental Ancestry Group* Female Hispanic Americans Humans Ichthyosis, X-Linked / epidemiology*, ethnology* Male Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis* Prevalence |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: HCMV seroprevalence and associated risk factors in pregnant women, Havana City, 2007 to 2008.
Next Document: A trend toward increased first trimester free beta-hCG and PAPP-A in monochorionic twins complicated...