CF Testing Guidelines
In 2001, the American College of Obstetricians and Gynecologists (ACOG) introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis. These guidelines were updated in 2005 and reaffirmed in 2007.
Highlights from the ACOG recommendations:
- Information about cystic fibrosis screening should be made available to all couples. It is reasonable to offer cystic fibrosis carrier screening to all couples regardless of race or ethnicity as an alternative to selective screening.
- Cystic fibrosis carrier screening should be offered before conception or early in pregnancy when both partners are of Caucasian, European, or Ashkenazi Jewish ethnicity.
- When both partners are cystic fibrosis carriers, genetic counseling is recommended to review prenatal testing and reproductive options. Prenatal diagnosis by chorionic villus sampling or amniocentesis, using DNA-based testing of the fetal cells, should be offered. If the partner is unavailable for testing, genetic counseling may be helpful.
The following guidelines for cystic fibrosis carrier screening and newborn screening have been published by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics:
ACOG Committee Opinion #325 – Update on Carrier Screening for Cystic Fibrosis, Obstetrics and Gynecology 2005; 1465 – 8.
Abstract: In 2001, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis. The American College of Obstetricians and Gynecologists has updated current guidelines for cystic fibrosis screening practices among obstetrician-gynecologists.
To obtain a copy of ACOG Committee Opinion #325, please visit the Obstetrics and Gynecology website. (Membership required)
ACMG Policy Statement: Cystic Fibrosis Carrier Screening: 2004 Revision of the American College of Medical Genetics Mutation Panel.
Abstract: In April 2001, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group recommended a panel of mutations and variants that should be tested to determine carrier status within the CFTR gene as a part of population screening programs. This was initially done in response to the recommendations of an NIH CF Consensus Conference that CF carrier screening be considered by all couples for use before conception or prenatally. At that time, the Working Group recognized limitations in our understanding of the population frequencies of several CF alleles and proposed to review mutation distribution data after the first two years of the program. In 2002, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current with respect to the scientific literature and other available data and practices, we initiated a second review of data on the distribution of mutations in different ethnic groups and we began to assess whether providers were experiencing challenges in delivering this service. The current CF Foundation patient mutation database includes nearly double the number of CF patient chromosomes available for analysis in 2000. This report summarizes the major recommendations of our Working Group with the supporting justification for these decisions. A number of articles in this issue of Genetics in Medicine provide some of the data on which our decisions were made, whereas others provide new information related to this topic.
To obtain a copy of this article, click on the following link: Watson, Michael S. et al, Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel, Genet Med 2004:6: 387-91.