Eur J Hum Genet. 2015 Jul 29. doi: 10.1038/ejhg.2015.160. [Epub ahead of print]

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Janssens S1, Chokoshvilli D2, Binst C3, Mahieu I3, Henneman L4, De Paepe A1, Borry P5.

Author information

• 1Centre for Medical Genetics Ghent, University Hospital Ghent, Ghent, Belgium.
• 21] Centre for Medical Genetics Ghent, University Hospital Ghent, Ghent, Belgium [2] Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
• 3Master Life Sciences and Medicine, University of Ghent, Ghent, Belgium.
• 4Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
• 5Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

Abstract

Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Caucasians. As most CF patients have no family history of the disorder, carrier screening for CF has the potential to prospectively identify couples at risk of conceiving an affected child. At-risk couples may consequently choose to act on the provided information and take steps to avoid the birth of a child with CF. Although carrier screening is widely believed to enhance reproductive autonomy of prospective parents, the practice also raises important ethical questions. A written questionnaire was administered to adult patients and parents of children with CF with the aim to explore participants' attitudes toward CF carrier screening and related reproductive issues. The study population was recruited from a CF patient registry in Belgium and comprised 111 participants (64 parents, 47 patients aged 16 or older). We found that more than 80% of all participants were in favor of preconception carrier screening for CF. However, some were concerned over potential negative consequences of population-wide CF carrier screening. Regarding future reproductive intentions, 43% of the participants indicated a desire to have children. Among these, preimplantation genetic diagnosis was found to be the most preferred reproductive option, closely followed by spontaneous pregnancy and prenatal diagnosis. Although the findings of our study suggest that patients and parents of children with CF support a population-based carrier screening program for CF, they also highlight some issues deserving particular attention when implementing such a program.