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Article

Genetic assessment following increased nuchal translucency and normal karyotype

15 Feb 2011

Abstract excerpt

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...

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PMID: 21321969
DOI: 10.1002/pd.2718

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