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ACOG Updates Cystic Fibrosis Screening Guidelines

  • Authors: News Author: Laurie Barclay, MD
    CME Author: Penny Murata, MD
  • CME Released: 3/25/2011
  • Valid for credit through: 3/25/2012
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Target Audience and Goal Statement

This article is intended for primary care clinicians, obstetrician-gynecologists, geneticists, and other specialists who provide care to pregnant women.

The goal of this activity is to provide medical news to primary care clinicians and other healthcare professionals in order to enhance patient care.

Upon completion of this activity, participants will be able to:

  1. Describe the recommendations for prenatal carrier screening for cystic fibrosis.
  2. Describe the type of laboratory test used for cystic fibrosis screening.


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  • Laurie Barclay, MD

    Freelance writer and reviewer, Medscape, LLC


    Disclosure: Laurie Barclay, MD, has disclosed no relevant financial relationships.


  • Brande Nicole Martin

    CME Clinical Editor, Medscape, LLC


    Disclosure: Brande Nicole Martin has disclosed no relevant financial relationships.

CME Author(s)

  • Penny Murata, MD

    Clinical Professor, Pediatrics, University of California, Irvine, California
    Pediatric Clerkship Director, University of California, Irvine, California


    Disclosure: Penny Murata, MD, has disclosed no relevant financial relationships.

CME Reviewer(s)

  • Sarah Fleischman

    CME Program Manager, Medscape, LLC


    Disclosure: Sarah Fleischman has disclosed no relevant financial relationships.

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ACOG Updates Cystic Fibrosis Screening Guidelines

Authors: News Author: Laurie Barclay, MD CME Author: Penny Murata, MDFaculty and Disclosures

CME Released: 3/25/2011

Valid for credit through: 3/25/2012


March 25, 2011 — The American College of Obstetricians and Gynecologists' (ACOG's) Committee on Genetics has updated its 2001 guidelines for cystic fibrosis (CF) screening practices among obstetrician-gynecologists, according to a Committee Opinion published in the April issue of Obstetrics & Gynecology.

The updated recommendations state that as a routine part of obstetric care and regardless of ethnicity, all women of reproductive age should be offered preconception and prenatal CF carrier screening.

"Prenatal and preconception carrier screening for CF was introduced into routine obstetric practice in 2001," the Committee on Genetics writes. "The goal of CF carrier screening is to identify couples at risk of having a child with classic CF, which is defined by significant pulmonary disease and pancreatic insufficiency. Cystic fibrosis is more common among the non-Hispanic white population compared with other racial and ethnic populations; however, it is becoming increasingly difficult to assign a single ethnicity to affected individuals."

Updated Recommendations

Specific recommendations for CF screening are as follows:

  • CF screening should be offered to all women of reproductive age, although it is most efficacious in the non-Hispanic white and Ashkenazi Jewish populations.
  • If a patient has been screened previously, the test should not be repeated, but CF screening results should be documented.
  • For routine carrier screening, complete analysis of the CF transmembrane regulator (CFTR) gene by DNA sequencing is not appropriate.
  • Maternal carrier screening is not replaced by newborn screening panels that include CF screening.
  • If a woman with CF wishes to become pregnant, a multidisciplinary team may assist in management of issues regarding pulmonary function, weight gain, infections, and higher risks for diabetes and preterm delivery.
  • When both parents are CF carriers, they should undergo genetic counseling to review prenatal testing and reproductive options.
  • When neither parent is affected by CF, but 1 or both has a family history of CF, CFTR mutation analysis in the affected family member may be identified from medical record review, and the couple should undergo genetic counseling.
  • If a woman's reproductive partner has CF or apparently isolated congenital bilateral absence of the vas deferens, mutation analysis and consultation by a geneticist is recommended.

"Given the increasing longevity of affected patients, women with CF have reasonable fertility and often can become pregnant without medical assistance," the Committee on Genetics concludes. "Therefore, it is recommended that women with CF receive guidance regarding adequate contraception as well as preconception consultation. Affected women also should be informed that their offspring will be obligate carriers and that their partners should be tested to determine their carrier risk."

Obstet Gynecol. 2011;117:1028-1031. Extract

Clinical Context

In 2001, the American College of Medical Genetics and the ACOG released guidelines for the preconception and prenatal carrier screening for CF. CF is caused by mutations in the CFTR gene on chromosome 7.

This guideline from ACOG's Committee on Genetics updates the guidelines for CF screening by obstetrician-gynecologists.

Study Highlights

  • The detection rate of CF screening by race or ethnicity is as follows:
    • 94% in Ashkenazi Jewish
    • 88% in non-Hispanic white
    • 72% in Hispanic white
    • 64% in African American
    • 49% in Asian American
  • Screening should be offered to all patients because it is becoming more difficult to assign a single ethnicity to individuals.
  • Negative screening results decrease, but do not eliminate, the risk of being a CF carrier:
    • 1/380 in Ashkenazi Jewish
    • 1/200 in non-Hispanic white
    • 1/200 in Hispanic white
    • 1/170 in African American
    • 1/180 in Asian American
  • Preconception carrier screening is most cost effective and is initially conducted in the patient only.
  • The following are indications for further testing, genetics consultation, or both:
    • If the patient is a CF carrier, then testing of the partner is indicated.
    • If the patient has been screened previously, then the test does not need to be repeated.
    • If a woman is a CFTR mutation carrier and the partner is unavailable or unknown, then genetic counseling is helpful.
    • If a prenatal diagnosis is being performed for other reasons and CF carrier status is unknown, then CF screening can be done concurrently on both the patient and the partner, with CF testing on chorionic villi or amniocytes if both partners are CF carriers.
    • If both partners are CF carriers, genetic counseling is indicated.
    • If 1 or both partners has a family history of CF, then genetic counseling is indicated for possible CFTR mutation analysis in the affected family member.
    • If the male partner has CF or isolated congenital bilateral absence of the vas deferens, then genetics should be consulted for mutation analysis.
    • If a person has 2 CF mutations, then genetics and specialist consultation is indicated for a mild form of CF.
  • CF screening uses a 23-mutation panel, per 2004 guidelines.
  • Complete analysis of the CFTR gene by DNA sequencing is not recommended for routine carrier screening but might be indicated after consultation with genetics in the following situations:
    • Patients with CF
    • Patients with a family history of CF
    • Male partners with congenital bilateral absence of the vas deferens
    • Newborns with positive newborn screening results when mutation screening results are negative
  • Patients and partners should receive information about CF, testing sensitivity and limitations, and reproductive options in order to decide about CF carrier screening.
  • All states include CF screening in the newborn screening panel.
  • Newborn CF screening does not replace maternal carrier screening.
  • Women with CF should receive information about contraception, preconception consultation, obligate carrier status of their offspring, and the need for testing of partners.
  • Women with CF might require a multidisciplinary team to manage pulmonary function, weight gain, infections, and increased risks for diabetes and preterm delivery.

Clinical Implications

  • CF carrier screening for all patients is reasonable given that many persons have multiple ethnicities, with the greatest sensitivity in the Ashkenazi Jewish and non-Hispanic white populations.
  • CF screening using a 23-mutation panel detects most mutations, whereas DNA sequencing of the CFTR gene should be considered after consultation with a genetics professional.

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