WS06.03Towards consensus guidelines: an international survey of follow-up practices for babies exposed to CFTR modulators (CFTRm) in utero and/or via lactation

IF 5.4 2区医学 Q1 RESPIRATORY SYSTEM

Journal of Cystic Fibrosis Pub Date : 2025-06-01 DOI:10.1016/j.jcf.2025.03.524

I. Bokobza , A. Downes , I. Felton , L. Thomson , J.C. Davies

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引用次数: 0

Abstract

Objectives

Limited evidence exists on risks to babies exposed to CFTRm in utero/via lactation. Our objective was to survey CF centre practices to inform consensus guidelines.

Methods

Clinicians in two UK centres devised 27 SurveyMonkey questions (max 14/respondent, adult/paediatric specific stems) exploring referral pathways and follow-up. A pilot UK survey and three independent clinicians optimised design. The link was emailed to ECFS and working group members.

Results

168 responses, with 28 incomplete removed, resulted in 140 analysed (75 adult, 65 paediatric) from 33 countries, majority from Europe (127). Across 71 adult centre responses, 367 pregnancies were estimated for 2023, with median ∼90% expectant mothers continuing CFTRm. Most adult sites (62%) referred CFTRm-exposed babies, either to general paediatrics (57%) or paediatric CF (43%). 38% do not refer or had no pregnancies. Among paediatric responses 38% always, 34% sometimes, and 22% never follow up these babies (6% unsure). Of those followed-up, 46% reported on-going review, 29% single review, 25% dependent on case. Table 1 specifies investigations offered:

60% of adult respondents perform a targeted CFTR panel in partner, 30% full CFTR sequencing. Partner genetics dictated baby genetic screening in 29%.

Conclusion

The data shows significant variability in practice. Some agreement exists, with most adult sites referring, and paediatric sites reviewing CFTRm exposed babies, with liver tests and cataract reviews most frequently offered. A desire for guidance was frequently expressed. These responses will inform the development of interim guidelines in parallel with a Delphi process to capture consensus.

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ws06.03迈向共识指南：一项关于婴儿在子宫内和/或哺乳期暴露于CFTR调节剂（CFTRm）的随访实践的国际调查

目的关于婴儿在子宫内或哺乳期暴露于CFTRm的风险的证据有限。我们的目标是调查CF中心的实践，以提供一致的指导方针。方法两个英国中心的临床医生设计了27个SurveyMonkey问题（最多14个/受访者，成人/儿童特定的问题），探索转诊途径和随访。一项英国试点调查和三名独立临床医生优化了设计。该链接已通过电子邮件发送给ECFS和工作组成员。结果来自33个国家的168份回复，其中28份未完全删除，共分析了140份（75名成人，65名儿科），其中大多数来自欧洲（127）。在71个成人中心回应中，估计2023年有367例怀孕，中位数~ 90%的孕妇继续CFTRm。大多数成人医院（62%）将暴露于cftrm的婴儿转到普通儿科（57%）或儿科CF（43%）。38%没有转诊或没有怀孕。在儿科答复中，38%总是，34%有时，22%从不对这些婴儿进行随访（6%不确定）。在随访者中，46%报告正在进行审查，29%报告单一审查，25%根据病例进行审查。表1列出了所提供的调查：60%的成人受访者在合作伙伴中进行了靶向CFTR面板，30%的人进行了全CFTR测序。伴侣基因决定了29%的婴儿基因筛查。结论在实际操作中，数据存在较大的变异性。存在一些一致意见，大多数成人网站涉及CFTRm暴露的婴儿，儿科网站最常提供肝脏检查和白内障检查。人们经常表示希望得到指导。这些答复将为制定临时准则提供信息，同时进行德尔菲程序以获得共识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Cystic Fibrosis 医学-呼吸系统

CiteScore

10.10

自引率

13.50%

发文量

1361

审稿时长

50 days

期刊介绍： The Journal of Cystic Fibrosis is the official journal of the European Cystic Fibrosis Society. The journal is devoted to promoting the research and treatment of cystic fibrosis. To this end the journal publishes original scientific articles, editorials, case reports, short communications and other information relevant to cystic fibrosis. The journal also publishes news and articles concerning the activities and policies of the ECFS as well as those of other societies related the ECFS.