Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.
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ABSTRACT: In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown.To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates.Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26?546?503 US births through June 30, 2013, aggregated by month and state of birth.State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates.Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort.Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100?000 births (n?=?37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100?000 births (n?=?13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100?000 births in 2007 (n?=?54) and 10.3 (95% CI, 5.9-14.8) per 100?000 births (n?=?21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100?000 births after states implemented mandatory screening compared with prior periods and states without screening policies. Early infant deaths from other/unspecified cardiac causes declined by 21.4% (95% CI, 6.9%-33.7%), with an absolute decline of 3.5 (95% CI, 3.2-3.8) deaths per 100?000 births. No significant decrease was associated with nonmandatory screening policies.Statewide implementation of mandatory policies for newborn screening for critical congenital heart disease was associated with a significant decrease in infant cardiac deaths between 2007 and 2013 compared with states without these policies.
<h4>Importance</h4>In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown.<h4>Objective</h4>To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates.<h4>Design, setting, and participants</h4>Observational study with group-leve ...[more]
Project description:Introduction The purpose of this article is to present the collective experiences of six federally-funded critical congenital heart disease (CCHD) newborn screening implementation projects to assist federal and state policy makers and public health to implement CCHD screening. Methods A qualitative assessment and summary from six demonstration project grantees and other state representatives involved in the implementation of CCHD screening programs are presented in the following areas: legislation, provider and family education, screening algorithms and interpretation, data collection and quality improvement, telemedicine, home and rural births, and neonatal intensive care unit populations. Results The most common challenges to implementation include: lack of uniform legislative and statutory mandates for screening programs, lack of funding/resources, difficulty in screening algorithm interpretation, limited availability of pediatric echocardiography, and integrating data collection and reporting with existing newborn screening systems. Identified solutions include: programs should consider integrating third party insurers and other partners early in the legislative/statutory process; development of visual tools and language modification to assist in the interpretation of algorithms, training programs for adult sonographers to perform neonatal echocardiography, building upon existing newborn screening systems, and using automated data transfer mechanisms. Discussion Continued and expanded surveillance, research, prevention and education efforts are needed to inform screening programs, with an aim to reduce morbidity, mortality and other adverse consequences for individuals and families affected by CCHD.
Project description:Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel's goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude.
Project description:BackgroundMicrovillus inclusion disease (MVID) is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality. Definitive treatment involves bowel transplant. The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations. We present the case of an infant with MVID due to a mutation not reported in the literature before.Case summaryWe report the case of an infant transferred to our institution with severe diarrhea of unknown etiology, failure to thrive, and significant metabolic derangements. An extensive work-up including stool studies for common gastrointestinal pathogens, abdominal ultrasound, esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis. Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea. She remained on total parenteral nutrition (TPN) for the duration of her hospital stay. Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene [homozygous mutation for MYO5B c.1462del, p. (Ile488Leufs*93)] giving us the diagnosis of MVID. She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report.ConclusionWe report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea. At the time of this publication, 232 allelic variations of this gene (MIM#606540) exist in National Center for Biotechnology Information's database. Our patient's mutation has not been reported in literature as a cause of MVID.
Project description:Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3?-hydroxysteroid dehydrogenase; 17?-hydroxylase/17,20 lyase; P450 oxidoreductase; 21-hydroxylase; and 11?-hydroxylase) and proteins (steroidogenic acute regulatory protein). These are located within the three major pathways of the steroidogenic apparatus involved in the production of mineralocorticoids, glucocorticoids, and androgens. Many countries have introduced newborn screening program (NSP) based on 17-OH-progesterone (17-OHP) immunoassays on dried blood spots, which enable faster diagnosis and treatment of the most severe forms of 21-hydroxylase deficiency (21-OHD). However, in several others, the use of this diagnostic tool has not yet been implemented and clinical diagnosis remains challenging, especially for males. Furthermore, less severe classic forms of 21-OHD and other rarer types of CAHs are not identified by NSP. The aim of this mini review is to highlight both the main clinical characteristics and therapeutic options of these conditions, which may be useful for a differential diagnosis in the neonatal period, while contributing to the biochemical evolution taking place in the steroidogenic field. Currently, chromatographic techniques coupled with tandem mass spectrometry are gaining attention due to an increase in the reliability of the test results of NPS for detecting 21-OHD. Furthermore, the possibility of identifying CAH patients that are not affected by 21-OHD but presenting elevated levels of 17-OHP by NSP and the opportunity to include the recently investigated 11-oxygenated androgens in the steroid profiles are promising tools for a more precise diagnosis and monitoring of some of these conditions.
Project description:Uruguay is a middle-income country and the smallest in South America. Its population is under 3.3 million. The demographic and epidemiological characteristics are similar to those of developed countries, with a high burden associated with congenital anomalies. Infant mortality rate (IMR) decreased from 37/1000 live births, in 1980, to 8.8/1000, in 2013. This is largely explained by medical and social policies. IMR related to congenital anomalies, however, remained unchanged for the last 30 years. Therefore, programmes for prevention of congenital disorders were developed, such as the National Newborn Screening Programme. Mandatory, universal, free infant screening was implemented two decades ago. The Ministry of Public Health created the Comprehensive Plan on Birth Defects and Rare Diseases (PIDCER), to develop a strategic public policy tool enabling comprehensive, universal, quality care during their entire lifetime. Recent national legislation created provisions for newborn and infant screening, including for congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, cystic fibrosis and medium-chain acyl-CoA dehydrogenase, via blood spot test, otoacoustic emissions, systematic physical examination and hip ultrasound. We discuss how this programme was implemented, the current situation of rare diseases, the institution managing disability in Uruguay and the development of new laws based on the MPH's PIDCER. It illustrates how Uruguay is developing public policies in the genomic era, based both on science and bioethics.
Project description:Screening newborns for critical congenital heart disease (CCHD) using pulse oximetry is recommended to allow for the prompt diagnosis and prevention of life-threatening crises. The present review summarizes and critiques six previously published estimates of the costs or cost-effectiveness of CCHD screening from the United Kingdom, United States, and China. Several elements that affect CCHD screening costs were assessed in varying numbers of studies, including screening staff time, instrumentation, and consumables, as well as costs of diagnosis and treatment. A previous US study that used conservative assumptions suggested that CCHD screening is likely to be considered cost-effective from the healthcare sector perspective. Newly available estimates of avoided infant CCHD deaths in several US states that implemented mandatory CCHD screening policies during 2011-2013 suggest a substantially larger reduction in deaths than was projected in the previous US cost-effectiveness analysis. Taking into account these new estimates, we estimate that cost per life-year gained could be as low as USD 12,000. However, that estimate does not take into account future costs of health care and education for surviving children with CCHD nor the costs incurred by health departments to support and monitor CCHD screening policies and programs.
Project description:Diphenhydramine (Benadryl) is a first-generation antihistamine that is used primarily to treat allergic reactions including anaphylaxis, urticaria, and allergic rhinitis. Despite its availability as an over-the-counter medication, toxicity may occur with its use especially when administered in large doses or via the intravenous route. We present a 3-month-old infant with Trisomy 21 who suffered a cardiac arrest immediately following administration of a single 1.25 mg/kg dose of intravenous diphenhydramine, prescribed for sedation in the Pediatric ICU setting. The potential cardiovascular and respiratory effects of diphenhydramine are presented, previous reports of life-threatening adverse effects reviewed, and options to limit these effects discussed.
Project description:From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17?-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.
Project description:BackgroundStudies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country.Methods and findingsIn a pilot study performed at the University Malaya Medical Centre (UMMC), Malaysia, all apparently healthy term newborns, delivered at UMMC were screened pre-discharge using pulse oximetry. Echocardiography was performed for newborns that had positive screening results on two separate occasions, 1-h apart. Newborns with normal echocardiograms were evaluated and treated for other non-cardiac diseases. Fifteen of 5247 term newborns had positive screening results. The median age at screening was 20 h. Thirteen newborns (0.24%) had significant non-cardiac diseases: sepsis (n = 2) and respiratory diseases (n = 11) that required hospitalization and treatment. The remaining two newborns with normal antenatal ultrasonograms had positive screening test and confirmed to have CCHD. Another 18 newborns with negative screening test were later admitted for treatment of sepsis (n = 16) and penumonia (n = 2). All newborns were treated and alive at the end of the study. The sensitivity and specificity of pulse oximetry screening for non-cardiac diseases were 42% and 99.9% respectively, and 100% and 99.7% for CCHD, respectively.ConclusionsRoutine pulse oximetry screening test was effective in identifying newborns with CCHD and other hypoxemia illnesses, which may led to potential life-threatening condition. This study showed that the expanded use of pulse oximetry has immediate implications for low- and middle-income countries contemplating strategies to reduce neonatal mortality and morbidity.AbbreviationsASD, atrial septal defect; CCHD, critical congenital heart disease; CRP, C-reactive protein; CXR, chest radiographs; NDI, neurodevelopment impairment; PPHN, persistent pulmonary hypertension of the newborn; PDA, patent ductus arteriosus; PFO, patent foramen ovale; TGA, transposition of great artery; TTN, transient tachypnoea of the newborn; VSD, ventricular septal defect.
Project description:State health departments have been responsible for prioritizing and allocating SARS-CoV-2 tests and vaccines. Testing and vaccination recommendations in the United States varied by state and over time, as did vaccine rollouts, COVID-19 cases, and estimates of excess mortality. We compiled data about COVID-19 testing, cases, and deaths, and excess pneumonia + influenza + COVID-19 deaths to assess relationships between testing recommendations, per capita tests performed, epidemic intensity, and excess mortality during the early months of the COVID-19 pandemic in the United States. We compiled further data about state-level SARS-CoV-2 vaccination policies and doses administered during the early months of the vaccine rollout. As of July 2020, 16 states recommended testing asymptomatic members of the general public. The rate of COVID-19 tests reported in each state correlated with more inclusive testing recommendations and with higher epidemic intensity. Higher per capita testing was associated with more complete reporting of COVID-19 deaths, which is a fundamental requirement for analyzing the pandemic. Testing per capita during the first three months was associated with vaccination per capita in the first three months of rollout. Per capita vaccine doses in each state were not associated with adherence to national guidelines. Reported deaths due to COVID-19 likely represent an undercount of the true burden of the pandemic. States that struggled with testing rollout have also frequently struggled with vaccine rollout. Coordinated, consistent guidelines for COVID-19 testing and vaccine administration should be a high priority for state and national health systems.
