Genetic assessment following increased nuchal translucency and normal karyotype.

  title={Genetic assessment following increased nuchal translucency and normal karyotype.},
  author={Eugene P Pergament and Christina M L Alamillo and Katrin Sak and Morris Fiddler},
  journal={Prenatal diagnosis},
  volume={31 3},
OBJECTIVE The objective of this study was to assess the first formal approach for monitoring genetic/developmental syndromes associated with the presence of an increased nuchal translucency (NT) thickness (>3 mm) in the first trimester of pregnancy. METHODS Multiple technologies-a DNA chip using the APEX technology, qPCR, microfluidic PCR, and sequencing-were applied to assay 310 mutations across five conditions-Noonan syndrome, congenital adrenal hyperplasia, spinal muscular atrophy (SMA… CONTINUE READING


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