Document Detail

Ultrasonographic soft markers of aneuploidy in second trimester: are we lost?
MedLine Citation:
PMID:  16915139     Owner:  NLM     Status:  MEDLINE    
Chromosomal abnormalities occur in 0.1% to 0.2% of live births, and the most common clinically significant aneuploidy among live-born infants is Down syndrome (trisomy 21). Other sonographically detectable aneuploidies include trisomy 13, 18, monosomy X, and triploidy. Second-trimester ultrasound scan detects 2 types of sonographic markers suggestive of aneuploidy. Markers for major fetal structural abnormalities comprise the first type; the second type of markers are known as "soft markers" of aneuploidy. These latter markers are nonspecific, often transient, and can be readily detected during the second-trimester ultrasound. The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, rhizomelic limb shortening, mild fetal pyelectasis, echogenic bowel, and echogenic intracardiac focus and choroid plexus cyst. There is a great deal of interest in the ultrasound detection of aneuploidy, as evidenced by the large number of publications in the literature on this topic. Unfortunately, studies evaluating the significance of the soft markers of aneuploidy vary widely and show contradictory results. In this article, we review the most common ultrasonographic soft markers used to screen aneuploidy and discuss ultrasonographic technique and measurement criteria for the detection of soft markers. We also review the clinical relevance of soft markers to aneuploidy risk assessment and evidence-based strategies for the management of affected pregnancies with each of these markers in light of current literature.
Sameer Raniga; P D Desai; Hetal Parikh
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Publication Detail:
Type:  Journal Article; Review     Date:  2006-01-11
Journal Detail:
Title:  MedGenMed : Medscape general medicine     Volume:  8     ISSN:  1531-0132     ISO Abbreviation:  MedGenMed     Publication Date:  2006  
Date Detail:
Created Date:  2006-08-17     Completed Date:  2007-02-19     Revised Date:  2013-06-07    
Medline Journal Info:
Nlm Unique ID:  100894134     Medline TA:  MedGenMed     Country:  United States    
Other Details:
Languages:  eng     Pagination:  9     Citation Subset:  IM    
Department of Radiology, S.S.G. Hospital and Medical College, Baroda, India.
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MeSH Terms
Congenital Abnormalities / ultrasonography*
Pregnancy Trimester, Second
Ultrasonography, Prenatal*

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

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