In vitro fertilization (IVF), widely known as a way to help infertile couples have babies, has taken on another remarkable use: It has become part of a procedure to help families keep from passing on serious genetic diseases to their children.
Parents who know they carry genetic mutations for muscular dystrophy, cystic fibrosis, sickle cell anemia, breast cancer, Huntington’s disease, Alzheimer’s and other inherited diseases can undergo IVF, where the mother’s eggs are collected and combined with sperm in a dish, and another procedure called preimplantation genetic testing (PGT), in which embryos are screened for the particular mutation and only disease-free embryos can be implanted in the mother.
One of the earliest cases of using preimplantation screening for adult-onset heritable diseases occurred about 20 years ago when a woman in her 30s discovered she carried a genetic mutation for early-onset Alzheimer’s.
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She and her husband turned to Rechitsky and the then-new combination of IVF and PGT to identify embryos that would not carry the mutation that causes Alzheimer’s.
The technique enabled the couple, who chose to remain anonymous, to create several embryos that testing showed were free of the genetic mutation, and they eventually had three children using those embryos.
