Two decades have passed since preimplantation genetic diagnosis (PGD) was successfully used to benefit high-genetic-risk couples with a known genetic disorder. This novel reproductive option allows couples the ability to find out important genetic information about their embryos prior to establishing a pregnancy. For many couples, the awareness of specific genetic mutations or markers of their in vitro embryos avoids the anguishing decision often associated with traditional prenatal diagnosis—whether or not to terminate an ongoing pregnancy (Chamayou et al., 1998; Palomba et al., 1994).
The case study exemplar presented here (see Box 1) serves as a poignant example of the context and particulars that are representative of a growing number of couples who seek foundational information about PGD, a primary prevention measure, from their front line health care providers. Often these providers are nurses, midwives and nurse practitioners in women’s health. Like Colette and Christopher of the case exemplar, many couples are in search of accurate health information, education and anticipatory guidance surrounding PGD.
Box 1. Case Exemplar
Colette, 32 years of age, and Christopher, 35 years of age, are the parents of a 4-year-old son who is diagnosed with cystic fibrosis, an autosomal recessive genetic disorder, resulting from a mutation at the CFTR gene, delta-F508. Before their son’s birth, Colette and Christopher were unaware of their genetic risk to transmit cystic fibrosis. Then their son was diagnosed with meconium ileus, an intestinal obstruction present at birth, which required immediate surgery to correct. Meconium ileus is the first symptom to appear in approximately 15 percent to 20 percent of children with cystic fibrosis. The other most common symptoms of cystic fibrosis among children include recurrent lung disease, chronic abdominal pain, pancreatic insufficiency and failure to thrive. In this case, confirmatory sweat and genetic testing resulted in a positive diagnosis for cystic fibrosis. At present, the couple desires to have another child but is worried that their future offspring may also have cystic fibrosis. Through an Internet support group, the couple became aware of preimplantation genetic diagnosis, or PGD. Colette and Christopher reside in the United States and are curious about PGD. While undergoing a routine gynecological examination, Colette turns to the nurse, her trusted health care provider, for information and education about PGD.
This article provides updated information on PGD applications as a primary prevention measure, presents a succinct overview of PGD procedures and highlights current advances and implications for nurses, advanced practice nurses, midwives, physicians and other health care providers to optimize patient education surrounding PGD use for high-genetic-risk couples. It’s important to note that there are differences in government regulation and legislation from country to country surrounding PGD; therefore, this article focuses on caring for couples in the United States.