Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period

Importance Cystic fibrosis (CF) is one of the most common autosomal recessive disorders. Carrier screening for CF should be offered to all women considering becoming pregnant or who are pregnant. Understanding the available screening tests, their limitations, and the benefits of screening is of paramount importance to the obstetrician-gynecologist. Objective The objective is to review the current guidelines for CF carrier screening including the options for carrier screening, the potential complexities associated with carrier screening for CF, and indications for referral to certified genetic counselors or maternal-fetal medicine specialists. Evidence Acquisition A MEDLINE search of “cystic fibrosis,” “cystic fibrosis carrier screening pregnancy,” and “inheritance of cystic fibrosis” in the review was performed. Results The evidence cited in this review includes 2 medical society committee opinions and 15 additional peer-reviewed journal articles that were original research or expert opinion summaries. Conclusions and Relevance The American College of Obstetricians and Gynecologists recommends that obstetricians offer CF carrier screening to all pregnant women or women considering becoming pregnant. Based on recent guidelines from ACMG, additional expanded carrier screening can be recommended to patients in the future, with additional CF variants and other autosomal or X-linked recessive conditions. It is important for the prenatal care provider to understand the guidelines for carrier screening as well as the potential complexities associated with carrier screening due to the multiple pathogenic variants in the CFTR gene that may be associated with varying phenotypes. With the options for CF carrier screening, screening performance in different populations, a basic understanding of the disease and interpretation of carrier screening results is of paramount importance to the prenatal care provider. Target Audience Obstetrician-gynecologist, family medicine, or other practitioner(s) providing prenatal care Learning Objectives After participating in this activity, physicians should be better able to define indications and the current guidelines for carrier testing for CF; compare types of CF carrier screening and describe potential results of the screening; propose patient counseling strategies regarding residual risk after negative CF carrier screening; and explain appropriate referral measures for patients with positive CF carrier screening results.