Document Detail

Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency.
MedLine Citation:
PMID:  12738128     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: 21-hydroxylase deficiency can lead to masculinization of female fetuses. Corticosteroid therapy may reduce these effects. When the fetus is male, this approach means that unnecessary treatment, with theoretic side effects, is given until the result of chorionic villus sampling (CVS), a procedure with known risks, is available. CASE: A woman was referred for prenatal assessment at 6 weeks' gestation because her first daughter had been born virilized from 21-hydroxylase deficiency. A real-time polymerase chain reaction assay was performed on maternal blood to detect the fetal Y chromosome-associated SRY gene. A positive signal for the SRY gene was observed. The assay was repeated a few days later, and the result was again consistent with a male fetus. CONCLUSION: Analysis of cell-free fetal deoxyribonucleic acid in maternal plasma for fetal sex determination might reduce the need for corticosteroid administration and CVS in women with fetuses at risk for 21-hydroxylase deficiency.
J L Bartha; K Finning; P W Soothill
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  101     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-05-09     Completed Date:  2003-05-15     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1135-6     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynaecology, St. Michael's Hospital, University of Bristol, Bristol, United Kingdom.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis*
DNA / blood*
Fetal Diseases / diagnosis*
Genes, sry*
Pregnancy, High-Risk / blood,  genetics
Prenatal Diagnosis*
Sex Determination (Genetics)*
Steroid 21-Hydroxylase
Reg. No./Substance:
9007-49-2/DNA; EC 21-Hydroxylase

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

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