Format

Send to

Choose Destination
Ultrasound Obstet Gynecol. 2014 Jun;43(6):620-4. doi: 10.1002/uog.13384. Epub 2014 May 8.

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

Author information

1
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR.

Abstract

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.

KEYWORDS:

array CGH; nuchal translucency; pathogenic submicroscopic CNV; prenatal array; prenatal diagnosis

PMID:
24719361
DOI:
10.1002/uog.13384
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center