Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020.

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015-2017 (17.50-18.31 per 10,000) to 2018-2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018-2020, including data from fifty US states and two territories.

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.

Cystic fibrosis (CF) newborn screening (NBS) was universally adopted in 2009 in the United States. Variations in NBS practices between states may impact the timing of diagnosis and intervention. Quantitative metrics can provide insight into NBS programs (NBSP), but the nuances cannot be elucidated without additional feedback from programs. This study was designed to determine facilitators and barriers to timely diagnosis and intervention following NBS for CF. The median age at the first CF event for infants with CF within each state was used to define early and late states (n = 15 per group); multiple CF centers were invited in states with more than two CF centers. Thirty states were eligible, and 61 NBSP and CF centers were invited to participate in structured interviews to determine facilitators and barriers. Once saturation of themes was reached, no other interviews were conducted. Forty-five interviews were conducted (n = 16 early CF center, n = 12 late CF center, n = 11 early NBSP, and n = 6 late NBSP). Most interviewees reported good communication between CF centers and NBSP. Communication between primary care providers (PCPs) and families was identified as a challenge, leading to delays in referral and subsequent diagnosis. The misperception of low clinical risk in infants from racial and ethnic minority groups was a barrier to early diagnostic evaluation for all groups. NBSP and CF centers have strong relationships. Early diagnosis may be facilitated through more engagement with PCPs. Quality improvement initiatives should focus on continuing strong partnerships between CF centers and NBS programs, improving education, communication strategies, and partnerships with PCPs, and improving CF NBS timeliness and accuracy.

Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation.

Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS' Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.

Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.

Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disorders and HL) reported by 50 U.S. state programs were tabulated. The three subtypes of sickle cell disease (SCD) listed as separate disorders on the RUSP (S,S disease; S,beta-thalassemia; and S,C disease) were combined for the current analysis, and the frequencies of the resulting disorders were calculated relative to annual births. During 2015-2017, the overall prevalence was 34.0 per 10,000 live births. Applying that frequency to 3,791,712 live births in 2018,† approximately 12,900 infants are expected to be identified each year with one of the disorders included in the study. The most prevalent disorder is HL (16.5 per 10,000), and the most prevalent DBS disorders are primary congenital hypothyroidism (CH) (6.0 per 10,000), SCD (4.9 per 10,000), and cystic fibrosis (CF) (1.8 per 10,000). Notable changes in prevalence for each of these disorders have occurred since the previous estimates based on 2006 births (2). The number of infants identified at a national level highlights the effect that NBS programs are having on infant health through early detection, intervention, and potential improved health, regardless of geographic, racial/ethnic, or socioeconomic differences.

Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.

BACKGROUND: Newborn screening (NBS) aims to achieve early identification and treatment of affected infants prior to onset of symptoms. The timely completion of each step (i.e., specimen collection, transport, testing, result reporting), is critical for early diagnosis. Goals developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) for NBS timeliness were adopted (time-critical results reported by five days of life, and non-time-critical results reported by day seven), and implemented into a multi-year quality improvement initiative (NewSTEPS 360) aimed to decrease the time to result reporting and intervention. METHODS: The NBS system from specimen collection through reporting of results was assessed (bloodspot specimen collection, specimen shipping, sample testing, and result reporting). Annual data from 25 participating NBS programs were analyzed; the medians (and interquartile range, IQR) of state-specific percent of specimens that met the goal are presented. RESULTS: The percent of specimens collected before 48 hours of life increased from 95% (88-97%) in 2016 to 97% (IQR 92-98%) in 2018 for the 25 states, with 20 (80%) of programs collecting more than 90% of the specimens within 48 hours of birth. Approximately 41% (IQR 29-57%) of specimens were transported within one day of collection. Time-critical result reporting in the first five days of life improved from 49% (IQR 26-74%) in 2016 to 64% (42%-71%) in 2018, and for non-time critical results from 64% (IQR 58%-78%) in 2016 to 81% (IQR 68-91%) in 2018. Laboratories open seven days a week in 2018 reported 95% of time-critical results within five days, compared to those open six days (62%), and five days (45%). CONCLUSION: NBS programs that participated in NewSTEPs 360 made great strides in improving timeliness; however, ongoing quality improvement efforts are needed in order to ensure all infants receive a timely diagnosis.

Development of National Newborn Screening Quality Indicators in the United States.

Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.

Achieving Public Health Standards and Increasing Accreditation Readiness: Findings From the National Public Health Improvement Initiative.

OBJECTIVES: During 2010-2014, the Centers for Disease Control and Prevention implemented the National Public Health Improvement Initiative (NPHII) to assist 73 public health agencies in conducting activities to increase accreditation readiness, improve efficiency and effectiveness through quality improvement, and increase performance management capacity. A summative evaluation of NPHII was conducted to examine whether awardees met the initiative's objectives, including increasing readiness for accreditation. DESIGN: A nonexperimental, utilization-focused evaluation with a multistrand, sequential mixed-methods approach was conducted to monitor awardee accomplishments and activities. Data analysis included descriptive statistics, as well as subanalyses of data by awardee characteristics. Thematic analysis using deductive a priori codes was used for qualitative analysis. RESULTS: Ninety percent of awardees reported completing at least 1 accreditation prerequisite during NPHII, and more than half reported completing all 3 prerequisites by the end of the program. Three-fourths of awardees that completed a self-assessment reported closing gaps for at least 1 Public Health Accreditation Board (PHAB) standard. Within 3 years of the launch of PHAB accreditation, 7 NPHII awardees were accredited; another 38 had formally applied for accreditation. CONCLUSIONS: Through NPHII, awardees increased collaborative efforts around accreditation readiness, accelerated timelines for preparing for accreditation, and prioritized the completion of required accreditation activities.

Parents' Primary Professional Sources of Parenting Advice Moderate Predictors of Parental Attitudes toward Corporal Punishment.

Despite the risk it poses to children's mental and physical health, approval and use of corporal punishment (CP) remains high in the United States. Informed by the Theory of Planned Behavior, we examined potential predictors of attitudes supportive of CP while assessing the moderating effects of parents' (N=500) chosen primary professional source of advice regarding child discipline: pediatricians (47.8%), religious leaders (20.8%), mental health professionals (MHPs) (n=18.4%), or other identified professionals (13.0%). We conducted a random-digit-dial telephone survey among parents ages 18 and over within New Orleans, LA. The main outcome measure was derived from the Attitudes Toward Spanking scale (ATS). The main "predictors" were: perceived injunctive norms (i.e., perceived approval of CP by professionals; and by family and friends), perceived descriptive norms of family and friends regarding CP, and expected outcomes of CP use. We used multivariate OLS models to regress ATS scores on the predictor variables for each subset of parents based on their chosen professional source of advice. Perceived approval of CP by professionals was the strongest predictor of parental attitudes supportive of CP, except for those seeking advice from MHPs. Perceived injunctive and descriptive norms of family and friends were important, but only for those seeking advice from pediatricians or religious leaders. Positive expected outcomes of CP mattered, but only for those seeking advice from religious leaders or MHPs. In conclusion, the strength and relevance of variables predicting attitudes toward CP varied according to the professional from which the parent was most likely to seek advice.

Early hits and long-term consequences: tracking the lasting impact of prenatal smoke exposure on telomere length in children.

We examined the association between telomere length and prenatal tobacco exposure (PTE) in 104 children aged 4 to 14 years. Salivary telomere length (STL) was determined from salivary DNA using quantitative polymerase chain reaction. Of the children, 18% had maternal reported PTE. Mean STL was significantly lower among children with PTE (6.4 vs 7.5, P < .05). Findings extend the literature demonstrating the negative long-term effects of PTE to include a cellular marker of aging linked to multiple negative health outcomes.