Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
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.


CONCLUSIONS
High fetal NT in the absence of sonographically detectable defects may not be associated with pathogenic CNVs.
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR.
J
J
Huang
L C
LC
Poon
R
R
Akolekar
K W
KW
Choy
T Y
TY
Leung
K H
KH
Nicolaides
D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods; D018568:Crown-Rump Length; D005260:Female; D005865:Gestational Age; D006801:Humans; D059785:Karyotype; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D011256:Pregnancy Outcome
array CGH; nuchal translucency; pathogenic submicroscopic CNV; prenatal array; prenatal diagnosis