title: Genetic assessment following increased nuchal translucency and normal karyotype.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Northwestern Reproductive Genetics, Chicago, IL 60611, USA.
authors.forename: Eugene
authors.initials: E
authors.lastname: Pergament
authors.forename: Christina
authors.initials: C
authors.lastname: Alamillo
authors.forename: Katrin
authors.initials: K
authors.lastname: Sak
authors.forename: Morris
authors.initials: M
authors.lastname: Fiddler
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009333:Neck / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics; D048208:Nuchal Translucency Measurement / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D020837:SOS1 Protein / Q000235:genetics
chemical_list: D020837:SOS1 Protein