A test that erases all doubt
Jim and his wife did have an excellent option: IVF with preimplantation genetic diagnosis (PGD). And they took it.
Using PGD, an embryo formed through in vitro fertilization (IVF) is tested for genetic abnormalities before it is transferred into a woman’s uterus and ultimately lead to a live birth. PGD evaluates an IVF embryo for a single, specific gene mutation that one of the parents is known to have or that is evident in a parent’s extended family. In this case, Huntington’s disease.
Jim wanted the PGD test done without disclosure, meaning he did not want to know if any of the embryos carried the mutation because if one did, that would mean that he carries it. That was not something he wanted to know at this time. So the couple went through IVF with PGD.
PGD involves taking a cell sample from an embryo and testing its DNA for genetic mutation. If the embryo does not have the mutation and is a good candidate in other respects, it is implanted in the mother’s womb.
Fortunately, we had two normal embryos and transferred one into the wife. She is now pregnant and released for follow-up care to her OB/GYN. And they still have one genetically normal frozen embryo that can be used to have another child.
This terrible disease has now been eliminated from this patient’s direct line of descendants. None of his children have to be concerned about getting the disease because only a normal, mutation-free baby was conceived by the wife. For Jim and his wife, this is a great relief.
It’s also a great example of how IVF with PGD can help a couple have a healthy child. For prospective parents who suspect they may carry a genetic mutation they don’t want to risk passing on to their child, PGD is an option to consider.
There’s another form of genetic testing called preimplantation genetic screening (PGS). PGS screens for a wide range of genetic defects, not just a specific one as in PGD.
These tests don’t just ensure a child without a genetic birth defect, they dramatically increase the chances of IVF success. That’s because, depending on age and reproductive history factors of the parents, 35-85 percent of IVF embryos have genetic flaws that result in failed pregnancies due to implantation problems or miscarriage.
PGD and PGS can eliminate many of those failures.