Written by Rebecca Budde, SIU School of Medicine
The pieces that put us together, our DNA, can play a large role in fertility. Women age 35 or older comprise a large sector of those seeking fertility treatments. Their advancing years not only decrease their chances of getting pregnant, but also increase their chances of chromosomal abnormalities resulting in miscarriage or birth defects.
Sometimes younger patients experience miscarriages and seek out genetic testing for answers. They may learn that they carry or have a family history of certain genetic conditions that they could pass on to their children. Genetic screening of the mother, father and/or tissue from miscarriages can sometimes help determine the cause.
In addition to offering genetic testing to patients, SIU School of Medicine’s Fertility and IVF Center now offers pre-implantation genetic diagnosis (PGD) to help put future parents’ minds at ease while helping them have a successful pregnancy. SIU also has genetic counselors available to help patients make the best decisions for their family.
PGD tests embryos for specific genetic differences. “If we know a couple is at high risk to have a child with a chromosome abnormality, we can use PGD to find embryos that have healthy chromosomes and implant those,” SIU genetic counselor Heather Glessner says. “If both members of a couple are carriers of a recessive disease, they have a 25 percent chance of each baby having the condition. Again, we can use PGD to test the embryos and determine which ones are unaffected.”
Glessner is a certified genetic counselor offering counseling for prenatal and reproductive risks and also counseling for personal or family history of known genetic conditions. She is one of three genetic counselors at the School — the only board-certified genetic counselors in the region.
After the embryologist safely takes a sample from the embryo, it is sent to a lab for analysis. While awaiting the results, the embryos are frozen. Results indicate which embryos carry the mutation and which ones do not and are therefore more likely to produce a successful pregnancy and healthy birth.
Sometimes, however, all the embryos are affected. “Though it’s difficult for the patients, it can bring closure and allow them to move on to the next step,”  SIU OB-GYN Dr. Loret de Mola says. In these cases, Glessner helps the couple weigh their options of continuing with in vitro fertilization with PGD, finding a sperm or egg donor or adopting.
Learn more about SIU’s Fertility and IFV Center in the aspects article Fertility Frontiers.
Visit SIU’s Fertility and IVF Center’s website at http://www.siumed.edu/fertility/
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