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Use of fetal nuchal translucency in the first trimester to predict single-gene disorders.
MedLine Citation:
PMID:  22025256     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To assess the predictive value of fetal nuchal translucency (NT) measurement in the prenatal diagnosis of single-gene disorders. METHODS: From January 1996 to December 2006, fetal NT was prospectively measured before chorionic villi sampling in 169 pregnancies at high risk for a single-gene disorder at 11 to 13 weeks of pregnancy. RESULTS: No differences were found between the 63 affected and 116 nonaffected fetuses in pregnancy demographic characteristics, in mean NT measurements, expressed either in millimetres [1.8 (95% CI:1.6-1.9) vs 1.7 (95% CI:1.6-1.8)] or in multiples of the median [1.19 (95%CI: 1.04-1.35) vs 1.14 (95%CI: 1.05-1.23)], or in median NT. The percentage of increased NT above the 95(th) percentile was similar for affected (9.5%) and nonaffected (11.2%) fetuses. CONCLUSION: Not all single-gene disorders are associated with enlarged NT, therefore NT cannot be regarded as a generic marker for single-gene disorder but only for a limited number of these conditions. Copyright © 2011 John Wiley & Sons, Ltd.
Authors:
Marta Arigita; Antoni Borrell; Raquel Mula; Aurora Sanchez; Montse Milà; Eduard Gratacos
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-24
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 John Wiley & Sons, Ltd.
Affiliation:
Prenatal Diagnosis Unit, Maternal-fetal Medicine Department, ICGON, Hospital Clinic Barcelona, Spain.
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