Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.

IF 2.7 3区医学 Q1 PEDIATRICS

Pediatric Pulmonology Pub Date : 2024-11-01 Epub Date: 2024-06-28 DOI:10.1002/ppul.27155

Meghan E McGarry, Stanley Sciortino, Steve Graham, Tracey Bishop, Elizabeth R Gibb

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引用次数: 0

Abstract

Background: Newborn screening (NBS) for cystic fibrosis (CF) is universal in the United States. Protocols vary but include an immunoreactive trypsinogen (IRT) level and CFTR variant panel. California CF NBS has a 3-step screening: IRT level, variant panel, and CFTR sequencing if only one variant identified on panel.

Methods: This was a cohort study of infants with CF born in California (2007-2021) to examine racial and ethnic differences in having a false-negative NBS result for CF and at which step the false-negative occurred. We examined how different CFTR variant panels would improve detection of variants by race and ethnicity: original 39-variant panel, current 75-variant panel, and all 402 disease-causing CFTR variants in the CFTR2 database.

Results: Of the 912 infants born in California with CF, 84 had a false-negative result: 38 due to low IRT level and 46 with a high IRT value (but incomplete variant detection). Asian (OR 6.3) and Black infants (OR 2.5) were more likely to have a false-negative screening result than non-Hispanic white infants. The majority of false-negative screening (but CF diagnosis) cases among American Indian/Native Alaskan and non-Hispanic White infants were due to low IRT levels. The majority of Asian and Hispanic infants with false-negative screening had no variants detected. Detection of two CFTR variants was improved with the 75-variant panel in Black, Hispanic, and non-Hispanic White infants and with the 402-variant panel in Black, Hispanic, non-Hispanic White, and other race infants.

Conclusions: Larger CFTR panels in NBS improved the detection of CF in all races and ethnicities.

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加州新生儿筛查计划提高了对所有种族和族裔的囊性纤维化检测率。

背景：囊性纤维化（CF）新生儿筛查（NBS）在美国非常普遍。筛查方案各不相同，但都包括免疫反应性胰蛋白酶原（IRT）水平和 CFTR 变体面板。加利福尼亚州的 CF NBS 筛查分为 3 个步骤：免疫反应胰蛋白酶原（IRT）水平、变异体检测和 CFTR 测序（如果检测中仅发现一个变异体）：这是一项对加利福尼亚州出生的 CF 婴儿（2007-2021 年）进行的队列研究，目的是检查在出现 CF NBS 假阴性结果时的种族和民族差异，以及假阴性发生在哪个步骤。我们研究了不同的 CFTR 变异面板如何提高不同种族和族裔的变异检测率：原始的 39 变异面板、当前的 75 变异面板以及 CFTR2 数据库中所有 402 个致病 CFTR 变异：在加利福尼亚州出生的 912 名 CF 婴儿中，有 84 人的结果为假阴性：38 人的 IRT 值低，46 人的 IRT 值高（但变异体检测不全）。与非西班牙裔白人婴儿相比，亚裔婴儿（OR 6.3）和黑人婴儿（OR 2.5）更容易出现筛查结果为假阴性的情况。在美国印第安人/阿拉斯加原住民和非西班牙裔白人婴儿中，大多数假阴性筛查结果（但 CF 诊断结果）是由于 IRT 水平过低造成的。大多数筛查结果为假阴性的亚裔和西班牙裔婴儿没有检测到变异体。在黑人、西班牙裔和非西班牙裔白人婴儿中，使用75个变异株的筛查组提高了两个CFTR变异株的检测率；在黑人、西班牙裔、非西班牙裔白人和其他种族婴儿中，使用402个变异株的筛查组提高了两个CFTR变异株的检测率：结论：在 NBS 中使用较大的 CFTR 染色体可提高所有种族和民族的 CF 检出率。

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

Pediatric Pulmonology 医学-呼吸系统

CiteScore

6.00

自引率

12.90%

发文量

468

审稿时长

3-8 weeks

期刊介绍： Pediatric Pulmonology (PPUL) is the foremost global journal studying the respiratory system in disease and in health as it develops from intrauterine life though adolescence to adulthood. Combining explicit and informative analysis of clinical as well as basic scientific research, PPUL provides a look at the many facets of respiratory system disorders in infants and children, ranging from pathological anatomy, developmental issues, and pathophysiology to infectious disease, asthma, cystic fibrosis, and airborne toxins. Focused attention is given to the reporting of diagnostic and therapeutic methods for neonates, preschool children, and adolescents, the enduring effects of childhood respiratory diseases, and newly described infectious diseases. PPUL concentrates on subject matters of crucial interest to specialists preparing for the Pediatric Subspecialty Examinations in the United States and other countries. With its attentive coverage and extensive clinical data, this journal is a principle source for pediatricians in practice and in training and a must have for all pediatric pulmonologists.