Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.

BACKGROUND To study the outcome of cases with nuchal translucency (NT) ≥ 95th centile in the first trimester of pregnancy. METHODS This cross sectional study was performed at Iranian Fetal Medicine Foundation (FMF) between January 2009 and December 2011. Totally, 186 cases with NT≥ 95th centile who attended for the first trimester screening were studied. All cases with increased NT including ...

Objective: Quantitative analysis of the quality of nuchal translucency (NT) measurements. Methods: This is a retrospective single-center study. NT was measured according to the Fetal Medicine Foundation (FMF) criteria by 20 trained obstetricians (October 2003-November 2009). The performance of NT measurements was analyzed with regard to several quality control standards. Accuracy according to e...