ACOG Updates Cystic Fibrosis Screening Guidelines

March 26, 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

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Authors and DisclosuresJournalistLaurie Barclay, MDFreelance writer and reviewer, Medscape, LLC

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

ACOG Updates Cystic Fibrosis Screening Guidelines