What is a Noonan test?

Testing for Noonan syndrome during pregnancy involves collecting a sample of your baby’s DNA and checking it for any of the faulty genes associated with the condition.

How do I know if my child has Noonan syndrome?

The condition is present from before birth, although milder cases may not be diagnosed until a child gets older. The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes. short stature (restricted growth)

Can you detect Noonan syndrome before birth?

Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero. Reported sonographic clues include septated cystic hygroma, hydrothorax, polyhydramnios, and cardiac defects, such as pulmonic stenosis and hypertrophic cardiomyopathy.

How long does a Noonan panel take?

3 weeks; if culture is required, an additional 1 to 2 weeks is required for processing time.

When is Noonan diagnosed?

A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn’t diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition.

Can Noonan syndrome be cured?

There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. For example: Medicines and surgery can help heart problems. Medicines or blood transfusions can treat bleeding.

Is it normal for baby to have short neck?

Yes it’s there. Normally the neck looks short in newborns because it tends to get lost in the chubby cheeks and folds of skin.

Can Noonan syndrome go undiagnosed?

The condition is usually diagnosed at birth, although milder cases may go undiagnosed until a child gets older. Noonan syndrome is relatively uncommon.

Can Noonan syndrome be mild?

The symptoms of Noonan syndrome can be mild to severe. Two children with Noonan syndrome may have completely different symptoms and skills.