Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

Abstract

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients' informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client.

Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

“…In October 2001, the American College of Medical Genetics and the American College of Obstetricians and Gynaecologists advised that CF screening be made available as desired to all patients planning a pregnancy or seeking prenatal care, in particular, to individuals with a family history of CF or couples in whom one or both partners were Ashkenazi Jewish or white (30). Different countries now are working to establish appropriate carrier screening programs, after preliminary economic assessment (31)(32)(33)(34) and evaluation of potential target groups (infertile patients included), and they are comparing different approaches in consideration of different healthcare and genetic counseling resources and target population attitudes (35,36). In general, preconceptional screening provides a maximum number of reproductive options and a minimum of time constraints (37) and is worldwide considered to be the best appropriate strategy for CF carrier screening (38)(39)(40).…”

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

“…Genetic counsellors should be familiar with the range of severity of CF symptoms and the fundamentals of medical management consistent with the recommendations of the US National Society of Genetic Counsellors [85]. Genetic counselling will outline present or future reproductive options and help facilitate further informed decisions (e.g.…”

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens

“…CFTR is expressed in epithelial cells of exocrine tissues, such as the pancreas, sweat glands, lungs, and vas deferens [21]. While CFTR is expressed throughout the body, CFTR abnormalities predominantly impact the pulmonary, digestive, and male reproductive systems, as well as the sinuses and sweat glands [26].…”