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Prenat Diagn. 2011 Mar;31(3):307-10. doi: 10.1002/pd.2718. Epub 2011 Feb 15.

Genetic assessment following increased nuchal translucency and normal karyotype.

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1
Northwestern Reproductive Genetics, Chicago, IL 60611, USA.

Abstract

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), DiGeorge syndrome, and Smith-Lemli Opitz syndrome.

RESULTS:

We report the results of assessing the first 120 patients in which 8 cases of Noonan syndrome were detected as well as an unusually high rate of heterozygosity for SMA.

CONCLUSION:

While testing for Noonan syndrome in association with increased NT appears warranted, the reported association of the remaining four genetic syndromes is likely to be weak and possibly insignificant.

PMID:
21321969
DOI:
10.1002/pd.2718
[Indexed for MEDLINE]

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