Noonan syndrome genetic counseling

Since Noonan syndrome is inherited in an autosomal dominant pattern, adequate genetic counseling prior to conception is recommended especially in parents with family history of a similar syndrome. During pregnancy, appropriate counseling for parents whose infant was antenatally diagnosed with Noonan syndrome is required to guide the diagnostic, management, and follow-up plans.

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.

• 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.

• Discussing available options for the care and follow-up of the child.^[1][2]

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