Cystic fibrosis carrier testing in pregnancy in Canada

OBJECTIVE: To assess the role of cystic fibrosis (CF) testing within the Canadian health care environment. METHODS: The Genetics and Maternal Fetal Medicine Committees of the Society of Obstetricians and Gynaecologists of Canada (SOGC) reviewed Preconception and Prenatal Carrier Screening for Cystic Fibrosis Clinical and Laboratory Guidelines produced by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) and other educational material from ACOG and ACMG. RESULTS: Background information related to cystic fibrosis, genetic mutation analysis, and one large clinical cystic fibrosis screening trial are reviewed. EVIDENCE: The quality of evidence reported in this document has been described using the Evaluation of Evidence criteria outlined in the report of the Canadian Task Force on the Periodic Health Exam. RECOMMENDATIONS: 1. CF testing in pregnancy is indicated for individuals who may be at increased risk for CF due to considerations of family history or clinical manifestations. (II-2A). 2. Before CF screening could be undertaken, each province/territory would have to review the ethnic diversity of its reproductive population to ensure that CF screening would be appropriate. (III-C). 3. Screening of all women during pregnancy for CF carrier status cannot be recommended at this time. (III-C).