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Gaucher's Disease - Frequently Asked Questions

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Gaucher's Disease - Frequently Asked Questions

1. Which specialist doctor should be consulted for Gaucherís disease?

You should consult a physician. For genetic counsllling consult a Medical Genetics Doctors

2. Can women who have Gaucherís disease have a successful pregnancy?

Yes. Pregnancy can however worsen the symptoms.

3. Are prenatal tests, preconception screening essential?

These might be essential in people of Ashkenazi Jewish heritage or they have a family history of Gaucher's disease. Genetic counselling is imparted in required cases.
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4. Can Gaucherís disease get transmitted from a mother to her child?

The disease is an inherited one that follows a pattern called autosomal recessive, i.e. both parents must be carriers of the genetic mutation that causes Gaucherís disease for their child to develop the condition.

5. What are the chances that a child develops Gaucherís disease if both parents are carriers?

There's still only a 25 percent chance. There is a 50 percent chance of their child being an unaffected carrier.

6. Should enzyme replacement therapy be continued during pregnancy?

It is unclear if therapy should be continued.

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