Assistant Clinical Professor, Division of Maternal-Fetal Medicine, Women's Health Institute, Cleveland Clinic Lerner College of Medicine, Cleveland, OH.
Professor, Divisions of Reproductive Genetics and Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia PA.
Obstet Gynecol Surv. 2022 Oct;77(10):606-610. doi: 10.1097/OGX.0000000000001062.
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.
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.
A MEDLINE search of "cystic fibrosis," "cystic fibrosis carrier screening pregnancy," and "inheritance of cystic fibrosis" in the review was performed.
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.
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 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.
囊性纤维化（CF）是最常见的常染色体隐性疾病之一。应向所有考虑怀孕或已怀孕的妇女提供 CF 携带者筛查。了解可用的筛查测试、其局限性以及筛查的益处，对于妇产科医生来说至关重要。
本综述旨在回顾 CF 携带者筛查的现行指南，包括携带者筛查的选择、CF 携带者筛查相关的潜在复杂性以及向认证遗传咨询师或母胎医学专家转诊的指征。
对 MEDLINE 中“囊性纤维化”、“囊性纤维化携带者妊娠筛查”和“囊性纤维化遗传”进行了文献检索。
本综述中引用的证据包括 2 项医学协会委员会意见和 15 项其他同行评议的期刊文章，这些文章均为原始研究或专家意见总结。
美国妇产科医师学会建议妇产科医生向所有孕妇或考虑怀孕的妇女提供 CF 携带者筛查。根据 ACMG 的最新指南，未来可向患者推荐额外的扩展携带者筛查，包括 CF 变体和其他常染色体或 X 连锁隐性疾病。产前保健提供者了解携带者筛查的指南以及由于与不同表型相关的基因中存在多个致病性变异而可能导致携带者筛查变得复杂，这一点非常重要。对于 CF 携带者筛查的选择、不同人群中的筛查性能、对疾病的基本了解以及对携带者筛查结果的解读，这对产前保健提供者来说至关重要。
