Document Detail

The mid-trimester genetic sonogram.
MedLine Citation:
PMID:  16104670     Owner:  NLM     Status:  MEDLINE    
The genetic sonogram is a composite algorithm combining multiple individual markers to increase Down syndrome risk prediction. Transformation of sonographic information into a standard mathematical format represented an early challenge that has now been surmounted. Using increasingly sophisticated mathematical techniques, individual patient risk can be estimated. High diagnostic accuracy comparable to standard mid-trimester serum algorithms has been reported. Most recently, a few studies have reported the ability to combine serum and biochemical markers to achieve diagnostic accuracy comparable to first-trimester screen. Even fewer studies have reported combinations of ultrasound and maternal urine markers. While it is clear that consistently high sensitivity and specificity for Down syndrome can be achieved, almost all the studies are based on high-risk groups. Studies in low-risk populations have suffered from lack of standardization. The relevance of genetic sonogram in a low-risk population thus remains to be proven. The most significant challenge, however, remains the development of uniform and reproducible sonographic and measurement standards. This is likely to be the most important factor in optimizing the accuracy of the mid-trimester genetic sonogram.
Ray O Bahado-Singh; Utko A Oz; Inanc Mendilcioglu; Maurice J Mahoney
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in perinatology     Volume:  29     ISSN:  0146-0005     ISO Abbreviation:  Semin. Perinatol.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-17     Completed Date:  2005-12-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7801132     Medline TA:  Semin Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  209-14     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Cincinnati, OH 45267-0526, USA.
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MeSH Terms
Down Syndrome / ultrasonography*
False Negative Reactions
Fetal Diseases / diagnosis*
Pregnancy Trimester, Second*
Sensitivity and Specificity
Ultrasonography, Prenatal / methods*,  standards

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