Skip to main content

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

Publication ,  Journal Article
Hopkins, MK; Dugoff, L; Kuller, JA
Published in: Obstet Gynecol Surv
October 2022

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. OBJECTIVES: 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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Obstet Gynecol Surv

DOI

EISSN

1533-9866

Publication Date

October 2022

Volume

77

Issue

10

Start / End Page

606 / 610

Location

United States

Related Subject Headings

  • Vitamins
  • Societies, Medical
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Mass Screening
  • Humans
  • Genetic Testing
  • Female
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cystic Fibrosis
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Hopkins, M. K., Dugoff, L., & Kuller, J. A. (2022). Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period. Obstet Gynecol Surv, 77(10), 606–610. https://doi.org/10.1097/OGX.0000000000001062
Hopkins, Maeve K., Lorraine Dugoff, and Jeffrey A. Kuller. “Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.Obstet Gynecol Surv 77, no. 10 (October 2022): 606–10. https://doi.org/10.1097/OGX.0000000000001062.
Hopkins MK, Dugoff L, Kuller JA. Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period. Obstet Gynecol Surv. 2022 Oct;77(10):606–10.
Hopkins, Maeve K., et al. “Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.Obstet Gynecol Surv, vol. 77, no. 10, Oct. 2022, pp. 606–10. Pubmed, doi:10.1097/OGX.0000000000001062.
Hopkins MK, Dugoff L, Kuller JA. Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period. Obstet Gynecol Surv. 2022 Oct;77(10):606–610.

Published In

Obstet Gynecol Surv

DOI

EISSN

1533-9866

Publication Date

October 2022

Volume

77

Issue

10

Start / End Page

606 / 610

Location

United States

Related Subject Headings

  • Vitamins
  • Societies, Medical
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Mass Screening
  • Humans
  • Genetic Testing
  • Female
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cystic Fibrosis