Document Detail

Increased nuchal translucency in the presence of normal chromosomes: what's next?
MedLine Citation:
PMID:  22277886     Owner:  NLM     Status:  Publisher    
PURPOSE OF REVIEW: First trimester screening is presently offered to all pregnant women as a means of prenatal screening for Down syndrome, trisomy 18, and trisomy 13. Nuchal translucency measurement is a fundamental component of the screening protocol. A woman whose fetus' nuchal translucency is greater than the 95th percentile is also at increased risk for a multiplicity of other adverse pregnancy and pediatric outcomes, and as a consequence, counseling of patients about their testing options and range of pregnancy outcomes has become complex and difficult. RECENT FINDINGS: The increased risk for chromosome abnormalities, congenital heart malformations, and pregnancy loss in the presence of an increased nuchal translucency is well documented. What has not been clearly defined is the incidence of other genetic syndromes, congenital defects, and adverse pregnancy and pediatric outcomes in the presence of increased nuchal translucency. Currently, Noonan syndrome is the only molecular genetic condition that has been shown to have a clear association with the finding of increased nuchal translucency in the first trimester. SUMMARY: This article reviews the current literature on outcomes in pregnancies with an increased nuchal translucency and a normal karyotype. We summarize the range of outcomes detected in the first trimester with recommendations for further prenatal testing and counseling of patients.
Christina M L Alamillo; Morris Fiddler; Eugene Pergament
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-24
Journal Detail:
Title:  Current opinion in obstetrics & gynecology     Volume:  -     ISSN:  1473-656X     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9007264     Medline TA:  Curr Opin Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
aNorthwestern Reproductive Genetics bDePaul University, Chicago, Illinois, USA.
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