Noonan syndrome genetic counseling
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Genetic Counseling
Prior to Conception
Noonan syndrome transmission can be variable but most reported cases are due to autosomal dominant inheritance. Preconception genetic counseling should include:[1]
- Detailed review of the family tree for at least three generations, with emphasis on skin and cardiac anomalies, short stature and cognitive and intellectual difficulties.
- Complete clinical examination of parents with detailed workup including an ECG and an echocardiogram.
During Pregnancy
- If antenatal diagnosis of Noonan syndrome is considered, counseling of the parents is essential before the child is born and includes:
- Explaining the mechanism of occurence on Noonan syndrome and the familial risk of genetic transmission.
- Reviewing the major manifestations and natural history of the disorder with special emphasis on its variability and unpredictability.
- Discussing required tests to confirm the diagnosis, including the proper work-up to be performed when the child is born
- Reviewing the available treatments and long-term management plans.
References
- ↑ 1.0 1.1 van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
- ↑ Sarkozy A, Digilio MC, Dallapiccola B (2008). "Leopard syndrome". Orphanet J Rare Dis. 3: 13. doi:10.1186/1750-1172-3-13. PMC 2467408. PMID 18505544.
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