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Sunday, November 27, 2005

Birth defects

Hi Dr. Amy,

I had to have a termination on the 4th of march this year as my child was severely ill. My specialist told me that the baby's heart was growing on the outside of his chest, there was alot of fluid on his brain and his spine was all twisted. My sister also was born with spina bifida and I am scared that this will happen again. The doctor told me he couldn't see it happening again as it was only the 2nd case he'd seen in 10 years. I'm just worried about it happening again as I'm 2 weeks late for my period.

Thank you,
Nicola

Dear Nicola,

Certain birth defects can be inherited, so your concern is very appropriate. First, you need to check a pregnancy test to see if you are pregnant.

Regardless of the outcome of the pregnancy test, you need a consultation with a genetic counselor. A genetic counselor can review your family history and the history of your recent pregnancy to see if there is a possibility that these birth defects are genetic. In addition, the counselor can recommend tests that may show exactly the genetic defect that is responsible. This information will allow the counselor to calculate the chances that this could happen again.

In addition, women who have a family history of spina bifida as you do should take an increased dose of folic acid before pregnancy and during pregnancy (a larger dose than that recommended for the average woman).

Sincerely,
Amy

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