Noonan syndrome genetic counseling

Noonan syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Causes
Differentiating Noonan syndrome from other Diseases
Epidemiology and Demographics
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
ECG Findings
Other Diagnostic Studies
Treatment
Management & Follow-up
Genetic Counseling
Case Studies
Case #1
Noonan syndrome genetic counseling On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Noonan syndrome genetic counseling All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Noonan syndrome genetic counseling
CDC on Noonan syndrome genetic counseling
Noonan syndrome genetic counseling in the news
Blogs on Noonan syndrome genetic counseling
Directions to Hospitals Treating Noonan syndrome
Risk calculators and risk factors for Noonan syndrome genetic counseling

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul

Overview

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.

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:

• 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.

• Discussing available options for the care and follow-up of the child.

References

Template:WikiDoc Sources