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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Can Prenatal Genetic Testing By Amniocentesis Rule Out Genetic Causes Of Dwarfism?

Does prenatal genetic testing by amniocentesis in a high risk pregnancy (due to twins) rule out genetic causes of dwarfism when the infant, now age 1, is short by growth charts but has no apparent physical abnormalities and normal growth hormone levels?
Fri, 27 Jun 2014
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Radiologist 's  Response
Hi,
Thaks for writing in.

Achondroplasia and some other forms of dwarfism can now be detected in amniocentesis. But since those conditions are so rare and there are no heredity indicators, doctors don't routinely test for them. It is important that you talk to a genetic specialist for the type of dwarfism prevalent in your family and the seek the required gene testing by aminocentesis.
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Can Prenatal Genetic Testing By Amniocentesis Rule Out Genetic Causes Of Dwarfism?

Hi, Thaks for writing in. Achondroplasia and some other forms of dwarfism can now be detected in amniocentesis. But since those conditions are so rare and there are no heredity indicators, doctors don t routinely test for them. It is important that you talk to a genetic specialist for the type of dwarfism prevalent in your family and the seek the required gene testing by aminocentesis.