背景：纽约（NY）州于2017年12月实施了一种新的囊性纤维化（CF）新生儿筛查（NBS）算法，其阳性预测值得到改善，并且意外增加了患有囊性纤维化跨膜传导调节因子（CFTR）相关代谢综合征（CRMS）的婴儿的识别。建议在患有CRMS的婴儿中重复进行汗液测试。在COVID-19大流行期间，患有CRMS的婴儿失去了随访。通过这项质量改进（QI）计划，我们的目标是对25%的失访婴儿进行重复汗液测试.我们还描述了纽约CFNBS联盟对CRMS的共识建议。
方法：我们的QI团队确定了导致缺席随访的主要驱动因素，与家庭联系，并创建了一份问卷，使用基于QI的策略评估父母对CRMS的理解。
结果：在研究期间被诊断为CRMS的350名婴儿中，179例(51.1%)婴儿失访。总共有31人（17.3％）计划进行重复的汗液测试，并在CF中心进行随访。家庭报告对CRMS知识问卷的满意度很高。
结论：使用这种基于QI的方法，我们有效地重新捕获了以前在COVID-19大流行期间失去随访的CRMS婴儿。对感染风险的持续担忧以及家庭和儿科医生缺乏理解可能导致CRMS患者失去随访。对CRMS的共识建议包括每年进行重复汗液测试，直到2-6岁，并对青少年进行有关CRMS的临床和生殖影响的教育。
BACKGROUND: New York (NY) State implemented a new cystic fibrosis (CF) newborn screen (
NBS) algorithm in December 2017 with improvement in positive predictive value and unanticipated increased identification of infants with cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS). Repeat sweat testing is recommended in infants with CRMS. During the COVID-19 pandemic infants with CRMS were lost to follow up. With this quality improvement (QI) initiative, we aimed to perform repeat sweat testing in 25% of infants lost to follow up. We also describe
consensus recommendations for CRMS from the NY CF
NBS Consortium.
METHODS: Our QI team identified the primary drivers contributing to absent follow up, outreached to families, and created a questionnaire to evaluate parental understanding of CRMS using QI-based strategies.
RESULTS: Of 350 infants diagnosed with CRMS during the study period, 179 (51.1%) infants were lost to follow up. A total of 31 (17.3%) were scheduled for repeat sweat tests and followed up at CF Centers. Families reported high satisfaction with the CRMS knowledge questionnaire.
CONCLUSIONS: With this QI-based approach, we effectively recaptured infants with CRMS previously lost to follow up during the COVID-19 pandemic. Ongoing concerns about infection risk and lack of understanding on the part of families and pediatricians likely contributed to patients with CRMS lost to follow up.
Consensus recommendations for CRMS include annual visits with repeat sweat testing until 2-6 years of age and education for adolescents about clinical and reproductive implications of CRMS.
