Preimplantation genetic diagnosis


In this world of technology, we seem to push the limits on a regular basis. Who would have thought just 20 years ago that something called the “internet” would be invented and that at the touch of a button, we have instant access to more information than the library of congress? The advances in technology clearly extend to many areas, including reproductive medicine.

Basic IVF – that is combining the sperm and the egg and transferring the resulting embryo back to the uterus sounds simple enough and clearly has benefitted thousands of couples. Although it was controversial in the early 1980’s, it is estimated that almost 3 million babies were born last year in the world with the help of IVF. The controversy in 2010 now extends to the specific genetic code contained within each embryo.

With PGD (preimplantation genetic diagnosis) we can test each embryo prior to transferring it back to the uterus. Currently, technology is available to screen for hundreds of genetic diseases (such as cystic fibrosis or sickle cell anemia). From an ethical standpoint, I personally am supportive of such endeavors to prevent a life threatening illness. (though I respect and understand the opinions of those who disagree). The controversy deepens as technology advances. With PGS (preimplantation screening), it is now available to test all embryos for hundreds of genetic diseases. What is not known is whether that embryo is truly destined to develop that disease (we know that some embryos, “self correct” and are not necessarily “ill-fated”. ) PGS is now offered to couples who have NO genetic abnormalities or at higher risk for genetic disease. It is also offered (still controversial) in some centers to test for gender.
On the surface, I know we all want healthy children and heck, why not balance the family in a manner that makes the parents happy? But it goes much deeper than this – which is why PGS (screening embryos of healthy parents) is still not recommended. What if you damage a healthy embryo just to test if it’s a “boy” or “girl” embryo? What do you do with the extra embryos that belong the unwanted gender? Sounds a bit like some third world countries that like to control their female population. Lots of research has been done that proves that the pregnancy rates and miscarriage rates are not affected by doing PGS on the embryos – i.e. it doesn’t really improve the chance of a healthy baby. In addition, the technology is still not advanced enough for us to be certain we aren’t causing harm to healthy embryos. For this and other reasons, I don’t offer PGS.
There are many articles written about the available testing for physical and even mental characteristics. It may one day be possible to screen for eye color, height, stature or numerous other qualities. But we have to constantly assess what the true benefit is and whether this improves our health or if it simply fulfills our personal wishes which are unrelated to a healthy baby. Remember – this is just a blog and my opinion. My job is to help couples in their quest to be parents. I have to make sure that everything we do is safe and effective. SO. . . before we just forge ahead with new technology, it’s wise to stop and remember what our main goal is.

Til I write again. . . Godspeed.

Genetics & Infertility

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