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Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH ?
Author(s) -
Huang J.,
Poon L. C.,
Akolekar R.,
Choy K. W.,
Leung T. Y.,
Nicolaides K. H.
Publication year - 2014
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.13384
Subject(s) - chorionic villus sampling , copy number variation , comparative genomic hybridization , fetus , medicine , karyotype , chorionic villi , gestation , prenatal diagnosis , obstetrics , andrology , chromosome , pregnancy , biology , genetics , genome , gene
Objective To examine the possible association between high fetal nuchal translucency thickness ( NT ) and pathogenic chromosomal copy number variants ( CNVs ) detected by array comparative genomic hybridization ( CGH ) in pregnancies with normal fetal karyotype . Methods Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which chorionic villus sampling at 11–13 weeks' gestation for high fetal NT (≥ 3.5 mm) had demonstrated normal karyotype . Results Median fetal NT was 4.0 (range, 3.5–9.5) mm. Array CGH detected additional CNVs in 1.4% (95% CI , 0.5–4.0) of the cases, but none of these was a known pathogenic CNV . Conclusion High fetal NT in the absence of sonographically detectable defects may not be associated with pathogenic CNVs . Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd .