Forms and Documents
- Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma
- Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Achiron, et al (2000) Noonan Syndrome: A cryptic condition in early gestation. Am J Med Genet 92:159-165
- Adekunle, et al (1999) Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population. Br J Radiol 72:457-60
- Tartaglia, et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-8
- Trauffer, et al (1994) The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynecol 170:1279-84
- Benacerraf, et al (1989) The prenatal sonographic features of Noonan syndrome. J Ultrasound Med 8:59-63
- Ferguson et al. (2006) PTPN11 gene analysis in fetuses with abnormal ultrasound findings: The GeneDx experience. Poster presentation at the Cardiofaciocutaneous Syndrome & Noonan Syndrome International Symposium, Nov 17-19, 2006, Potomac, MD
- Hiippala, et al (2001) Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18:18-22
- Reynders, et al (1997) First trimester isolated fetal nuchal lucency: Significance and outcome. J Ultrasound Med 16:101-105
- Souka, et al (2001) Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18:9-17
- Pandit B et al. (2007) Nat Genet 39:1007-1012. Lee et al. (2009) Clin Genet. 75(2):190-4