Article
Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype.
Prenatal diagnosis - 1 Sept 2011
Bakker M, Pajkrt E, Mathijssen I B, Bilardo C M
Abstract excerpt
OBJECTIVE: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. METHODS: We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographi...
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