CO SCI 136 Lecture Notes - Lecture 17: Abortion, Newborn Screening, Genetic Counseling
Document Summary
Janssens (2016) attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues. Population-wide carrier screening provides an opportunity to identify couples in which both partners are carriers of cf. On the basis of the carrier status information, carrier couples may then make informed reproductive decisions. Performing carrier screening in the preconception period allows for the highest number of reproductive options, including preimplantation genetic diagnosis (pgd) for selecting cf- embryos, and refraining from pregnancy. Carrier screening during pregnancy limits reproductive options to carrying the pregnancy to term or performing prenatal diagnosis, optionally followed by termination of pregnancy if the fetus is found to be affected. Despite clear advantages of preconception screening over prenatal screening, studies have demonstrated a greater uptake of carrier screening by pregnant couples, because this target group is easier to reach and is highly receptive to the idea of screening. Pgd and two (11. 1%) would also consider adoption.
