Omari Amel, Reeves Sarah L, Prosser Lisa A, Creary Melissa S, Ahmad Ayesha, Chua Kao-Ping
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Int J Neonatal Screen. 2022 Jul 19;8(3):42. doi: 10.3390/ijns8030042.
Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs). To assess the usability of these data for research, we examined the completeness of key variables, particularly race and ethnicity. Data included 24,129 cases of 34 newborn screening disorders from 45 states available in NewSTEPs as of 31 August 2020. Birth years of cases ranged between 2006 and 2020. Rates of missing data for sex, gestational age, birth weight, and race/ethnicity were 3.8%, 31.7%, 7.0%, and 39.7%, respectively. After excluding 21 states for which ≥50% of cases had missing data on race and/or ethnicity, 16,010 cases from 24 states remained. The disorders with the highest proportions in which cases were recorded as Hispanic ethnicity/any race were methylmalonic acidemia (48.7%) and maple syrup urine disease (45.7%). Analyses indicated that sex and birth weight data in NewSTEPs are reasonably complete, but missing data are common for gestational age and race/ethnicity. Despite this, our analyses revealed several novel associations between race/ethnicity and newborn screening disorders, such as the high burden of maple syrup urine disease among Hispanic patients. This demonstrates the potential usefulness of NewSTEPs for research if investments in higher-quality data are made.
美国大多数州的新生儿筛查项目目前都在向新生儿筛查技术援助与评估项目（NewSTEPs）提供病例数据。为了评估这些数据用于研究的可用性，我们检查了关键变量的完整性，尤其是种族和民族。数据包括截至2020年8月31日在NewSTEPs中可获取的来自45个州的34种新生儿筛查疾病的24129个病例。病例的出生年份在2006年至2020年之间。性别、孕周、出生体重和种族/民族的缺失数据率分别为3.8%、31.7%、7.0%和39.7%。在排除21个州，这些州中≥50%的病例在种族和/或民族方面有缺失数据后，剩下来自24个州的16010个病例。病例被记录为西班牙裔/任何种族比例最高的疾病是甲基丙二酸血症（48.7%）和枫糖尿症（45.7%）。分析表明，NewSTEPs中的性别和出生体重数据相当完整，但孕周和种族/民族的缺失数据很常见。尽管如此，我们的分析揭示了种族/民族与新生儿筛查疾病之间的几个新关联，例如西班牙裔患者中枫糖尿症的高负担。这表明，如果对更高质量的数据进行投资，NewSTEPs对于研究具有潜在的有用性。
