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

نویسندگان

  • J Huang
  • L C Poon
  • R Akolekar
  • K W Choy
  • T Y Leung
  • K H Nicolaides
چکیده

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.

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عنوان ژورنال:
  • Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

دوره 43 6  شماره 

صفحات  -

تاریخ انتشار 2014