Document Detail

Fetal nuchal translucency thickness.
MedLine Citation:
PMID:  17515296     Owner:  NLM     Status:  MEDLINE    
In the early 1990s Nicolaides introduced screening for trisomy 21 by fetal nuchal translucency thickness measurement with ultrasound between 11-13(+6) weeks. Already in 1866 L. Down noted that common features of patients with trisomy 21 are a skin being too large for the body and a flat face with a small nose. While detection rates for trisomy 21, given an invasive testing rate of 5%, were only 30% for screening by maternal age and 65% for screening by maternal serum triple test, the detection rate for screening by nuchal translucency combined with maternal age was 75% and this could be increased to 90% in combination with maternal serum screening (serum B-human chorionic gonadotropin and pregnancy-associated plasma protein-A) at 11-13(+6) weeks. The additional soft markers in the first trimester are the fetal nasal bone, the Doppler velocity waveform in the ductus venosus and tricuspid regurgitation and these markers can be used to further increase the detection rate of trisomy 21. In addition increased nuchal translucency thickness can also identify other chromosomal defects (mainly trisomy 13 and 18 and monosomy X) and major congenital malformations (mainly cardiac defects) and genetic syndromes.
I Witters; J R Fryns
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  18     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2007  
Date Detail:
Created Date:  2007-05-22     Completed Date:  2007-06-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  1-7     Citation Subset:  IM    
Center for Human Genetics, University of Leuven, Belgium.
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MeSH Terms
Chromosome Disorders / ultrastructure
Diseases in Twins / embryology,  ultrasonography
Down Syndrome / ultrasonography*
Nuchal Translucency Measurement* / methods
Predictive Value of Tests

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