Women who might want to consider aneuploidy testing are older women who are at increased risk for maternal age-related genetic abnormalities and who do not want to be faced with a decision to terminate an abnormal pregnancy or have an abnormal child. Women of any age with a history of repeated miscarriage should consider aneuploidy testing because most miscarriages occur because the conceptus is chromosomally abnormal. PGD for them can select the best embryos for transfer and can lower their risk of a subsequent miscarriage.
Couples with a family history of sex-linked diseases or of inherited diseases where an abnormal gene has been identified as the cause of the disease (there are hundreds of these identified to date) should consider PGD to improve their chances of having a healthy baby. A family history of sex-linked diseases like hemophilia or retinitis pigmentosa, where the males are affected but the females are carriers would be a good reason to use sex selection and preferentially transfer female embryos because the little girls would be normal (but possibly carriers) while the boys would potentially have the disease.
The story you read about where a sibling was created using PGD for a child with a rare disease could have been a child with Fanconi’s anemia. We have seen a number of these families in our IVF center. Fanconi’s anemia is a rare inherited disease where the child may die without a bone marrow transplant. In these cases you must search for embryos that not only are free of the bad gene but they must also be an HLA match for the affected child in order to make it possible to do the bone marrow transplant.
Fertile Thoughts is published monthly. Each column features a real question from a reader, and we invite other readers to respond with their thoughts and insights by posting comments. If you have a question for Dr. Carlene Elsner, please send it to her care of the editor at laura@realgirlsmedia.com. Your question will be kept in the strictest of confidence.
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