Couples find hope with genetic screening

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For couples like Joanne and Blaine Reese of Macon, North Carolina who carry fatal genetic disorders, preimplantation genetic diagnosis (PGD) has made creating a healthy family possible.

Prior to hearing about the treatment, the Reeses suffered an unexpected and devastating loss of their five month old son to spinal muscular atrophy. When their first son was only six weeks old doctors discovered that he was born with the fatal genetic disorder inherited from his parents. The couple learned they were both carriers of the disease and together share a 25% chance of having an affected child, a 50% chance of conceiving a carrier, and a 25% chance of delivering a healthy baby. After the death of their son Joseph, their doctor advised them to see the help of a fertility specialist.

Dr. Grace Couchman of Carolina Conceptions introduced them to PGD. This technique is used in coordination with in vitro fertilization (IVF). Embryos created in the lab are biopsied to determine which are chromosomally normal. Once the genetic markers are discovered, only those embryos that are healthy and viable are transplanted. “It’s rewarding to help couples conceive, but to use PGD to ensure they have a healthy baby, one who may otherwise have suffered from a life-threatening genetic disorder is particularly gratifying,” says Dr. Couchman. PGD can screen for disorders like Down syndrome, cystic fibrosis, sickle cell disease and spinal muscular atrophy in the earliest stage of life.

By working with Dr. Couchman and using PGD the Reese family now includes two healthy children. Haley is two and a half years old and Ross was born last November.

Source: Carolina Conceptions


 
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