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Friday, April 11, 2008

We now have a perfect little girl: Rare genetic disorders

Jenny Badner Falcon's story:
I carried two severely deformed, unviable pregnancies that were diagnosed in the second-trimester anatomical sonogram and would have likely led to stillbirth or death soon after birth.

It was only after a second detailed autopsy was performed by a dedicated and caring pathologist at Columbia University that a team of geneticists was able to give us a diagnosis. My husband and I are carriers of an extremely rare genetic disorder. But thanks to the autopsy and the diagnosis, we were able to have our third fetus tested during the first trimester and we now have a perfect little girl.

Advice to couples who have had more than one miscarriage: Jane Brody is correct to emphasize the importance of autopsies in recurrent pregnancy loss.

Read another rare genetic disorder story.

Thanks to Jenny Falcon for her letter to the editor, published in the NY Times of April 9, and to Jane Brody for her article in the Times on April 1.

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