When Alexis Sturgeons brother was 15 years old, he started having flu-like symptoms, vomiting, and problems thinking clearly. He was eventually diagnosed with a life-threatening condition known as ornithine transcarbamylase deficiency (OTC).
OTC is a genetic disorder that causes ammonia to build up in the blood and then travel to the central nervous system. It can cause neurological damage and even be fatal. Because theres no cure, Alexiss brother takes several medications just to stay alive.
Through genetic testing, Alexis discovered that she, with her mother and two out of her three sisters were all carriers of the disorder. If Alexis had a child, there was a 50 percent chance that her baby would have the condition. Still in college, Alexis was devastated and worried if she would ever have a healthy baby one day.
After learning about her options, she decided that, when she was ready to have children, she would opt for pre-implantation genetic diagnosis (PGD), a procedure that screens embryos created through IVF for genetic abnormalities.
After I found out I was a carrier, I already knew the path that I wanted to take to be able to have children, she said. I didnt want my future children to have to worry about it at all. Now married and hoping to start a family, Alexis underwent PGD in 2012, but the pregnancy didnt take. She tried again and found out she was pregnant the day after Christmas. In August 2013, Alexis delivered a healthy baby girl.
What is pre-implantation genetic diagnosis? The addition of IVF to genetics is tremendously powerful and synergistic, said Dr. Brian Kaplan, a fertility specialist at the Fertility Centers of Illinois. According to Kaplan, PGD allows doctors to take an individualized approach to medicine.
PGD technology was developed in the 1990s, but only recently has it started to become more popular and a more viable option for couples who want to ensure their baby wont inherit serious, even fatal, genetic conditions like Tay-Sachs, Cystic Fibrosis, and Spinal Muscular Atrophy (SMA) and genetic mutations like the BRACA gene, known to cause breast cancer. For couples who are both carriers of an autosomal recessive gene, their baby has a 1 in 4 chance of inheriting that genetic disorder.
According to the Society for Assisted Reproductive Technology, 5 percent of the more than 165,000 infertility cycles used PGD in 2012.
PGD also eliminates the need for a mother to undergo chorionic villus sampling (CVS) or amniocentesis or having to decide to terminate a pregnancy.
It gives patients the option of making this decision long before pregnancy, Kaplan said.
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