Use of fetal nuchal translucency in the first trimester to predict single-gene disorders

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...

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Bibliographic Details
Published in:Prenatal diagnosis 2011-12, Vol.31 (12), p.1164-1168
Main Authors: Arigita, Marta, Borrell, Antoni, Mula, Raquel, Sanchez, Aurora, Milà, Montse, Gratacos, Eduard
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
chorionic villus sample
Delivery. Postpartum. Lactation
Demography
Female
Fetuses
first trimester ultrasound
Fundamental and applied biological sciences. Psychology
Genetic Diseases, Inborn - diagnostic imaging
Genetics of eukaryotes. Biological and molecular evolution
Gynecology. Andrology. Obstetrics
Humans
increased nuchal translucency
Medical sciences
Molecular and cellular biology
nuchal translucency
Nuchal Translucency Measurement
Predictive Value of Tests
Pregnancy
Pregnancy Trimester, First
Prenatal diagnosis
Risk factors
Sampling
single-gene disorders
Ultrasound
Villus
Young Adult
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Summary: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 95th 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.
ISSN:0197-3851
1097-0223
1097-0223
DOI:10.1002/pd.2856