Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study.

CONTEXT: Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. OBJECTIVE: To study the prevalence of fractures in CAH. DESIGN, SETTING, AND PARTICIPANTS: Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n = 71 400). Data were derived by linking National Population-Based Registers. MAIN OUTCOME MEASURES: Number and type of fractures. RESULTS: Mean age was 29.8 ±â€…18.4 years. Individuals with CAH had more fractures compared to controls [23.5% vs 16.1%, odds ratio (OR) 1.61, 95% CI 1.35-1.91], and this was found in both sexes (females: 19.6% vs 13.3%, OR 1.57, 95% CI 1.23-2.02; males: 28.7% vs 19.6%, OR 1.65, 95% CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip, or shoulder) was increased in all individuals with CAH (9.8% vs 7.5%, OR 1.34, 95% CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while nonclassic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. CONCLUSIONS: Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patients neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

The future of newborn screening for lysosomal disorders.

The goal of newborn screening is to enhance the outcome of individuals with serious, treatable disorders through early, pre-symptomatic detection. The lysosomal storage disorders (LSDs) comprise a group of more than 50 diseases with a combined frequency of approximately 1:7000. With the availability of existing and new enzyme replacement therapies, small molecule treatments and gene therapies, there is increasing interest in screening newborns for LSDs with the goal of reducing disease-related morbidity and mortality through early detection. Novel screening methods are being developed, including efforts to enhance accuracy of screening using an array of multi-tiered, genomic, statistical, and bioinformatic approaches. While NBS data for Gaucher disease, Fabry disease, Krabbe disease, MPS I, and Pompe disease has demonstrated the feasibility of widespread screening, it has also highlighted some of the complexities of screening for LSDs. These include the identification of infants with later-onset, untreatable, and uncertain phenotypes, raising interesting ethical concerns that should be addressed as part of the NBS implementation process. Taken together, these efforts will provide critical, detailed data to help guide objective, ethically sensitive decision-making about NBS for LSDs.

The Saga of Pulse Oximetry Screening for Critical Congenital Heart Disease in Israel: A Historical Perspective.

BACKGROUND: Many countries have adopted a mandatory routine pulse oximetry screening of newborn infants to identify babies with otherwise asymptomatic critical congenital heart disease (CCHD). OBJECTIVES: To describe the current status of pulse oximetry CCHD screening in Israel, with a special emphasis on the experience of the Shaare Zedek Medical Center. METHODS: We review the difficulties of the Israeli Medical system with adopting the SaO2 screening, and the preliminary results of the screening at the Shaare Zedek Medical Center, both in terms of protocol compliance and CCHD detection. RESULTS: Large scale protocol cannot be implemented in one day, and regular quality assessment programs must take place in order to improve protocol compliance and identify the reasons for protocol failures. CONCLUSIONS: Quality control reviews should be conducted soon after implementation of the screening to allow for prompt diagnosis and quick resolution.

[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.] / Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España.

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.

Los Programas de Cribado Neonatal (PCN) nacen en España en Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron desarrollando en torno al llamado "Plan Nacional de Prevención de la Subnormalidad" con una cobertura cercana al 30% de los recién nacidos españoles. A partir de 1982, con el inicio de la gestión de la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que éstos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansión no es hasta el inicio de la década de los 90 cuando se consigue una cobertura próxima al 100% de los RN en España. Los PCN fueron creciendo de forma muy asimétrica en las diferentes CCAA y en los años 2005 y 2006 las Sociedades Científicas SEQC (Sociedad Española de Química Clínica) y AECNE (Asociación Española de Cribado Neonatal), con la coordinación del Área de Promoción de la Salud de la Dirección General de Salud Pública, recopilaron la información y elaboraron un informe, sobre los PCN en España para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó las siete enfermedades que debían formar parte del panel de detección de los PCN territoriales, primer paso hacia la armonización de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad.

Drive-through transcutaneous bilirubin screening for neonatal jaundice: A safe and efficient system during the COVID-19 pandemic.

The coronavirus disease 2019 (COVID-19) cases was on an increasing trend, including in Malaysia. The Malaysian Ministry of Health had implemented a range of measures, such as the use of masks and social distancing, to reduce the risk of transmission. Traditionally, newborns are evaluated for neonatal jaundice using visual assessment, a capillary heel prick and serum bilirubin (SB) sampling in primary health-care clinics. This approach requires the physical presence of both parents and their newborns in the primary health-care clinics, causing crowding and increasing the risk of COVID-19 infections. To alleviate crowding, we implemented the transcutaneous bilirubin drive-through (DT) service, which is an established, non-invasive, painless and rapid method to determine the bilirubin levels. Throughout the screening, both parents and baby will be confined to their car. A total of 1842 babies were screened in our DT setting from April to July 2020. Of the total babies, 298 (16.1%) required venesection for SB measurement and 85 required admission for phototherapy. None with severe jaundice were missed since the implementation of this service. The average test duration per neonate was less than 5 min, while conventional venous bilirubin laboratory testing required an average of 1.5 h per neonate. The cost of the SB laboratory test and consumables was approximately USD 5 per test, with an estimated cost savings of USD 7720. DT screening may be introduced in health-care settings to reduce crowding and eliminate the need of painful blood sampling in newborns.

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study.

Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study's contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct-mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct-mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under-representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct-mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large-scale, population-based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant-centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.

Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program.

CONTEXT: Analysis of a 2-screen program for congenital hypothyroidism (CH) was performed using differential dried-blood spot thyrotropin (bTSH) cutoffs of 10 mU/L at first screening (all infants) and 5 mU/L at second screening (selected infants). OBJECTIVES: This work aimed to characterize CH infants identified by the second screening and compare infants with bTSH of 5.0 to 9.9 and 10 mU/L or greater on second screening. DESIGN AND PATIENTS: Maternal and neonatal clinical features were retrospectively analyzed for 119 CH babies detected on the second screen in the Lombardy region of Italy, 2007 to 2014. RESULTS: Fifty-two (43.7%) of the 119 CH neonates showed bTSH values ranging from 5.0 to 9.9 mU/L at the second screening (low bTSH group) and 67 (56.3%) bTSH of 10.0 mU/L or greater (high bTSH group). The frequency of thyroid dysgenesis and eutopic gland was similar in both groups, as was the frequency of permanent and transient CH. Moreover, a high frequency of extrathyroidal malformations was found in both groups. The percentage of preterm infants (57.7% vs 23.9%, P < .001) and infants admitted to the neonatal intensive care unit (50.0% vs 17.9%, P < .001) was significantly higher in the low vs the high bTSH group. In addition, maternal treatment with glucocorticoids in pregnancy was significantly more frequent in the low bTSH group than in the high bTSH group (11.5% vs 1.5%, P = .042), as well as maternal hypothyroidism and/or goiter (26.9% vs 10.4%, P = .036). CONCLUSIONS: This study has demonstrated that a lower TSH cutoff at the second screening can detect additional cases of CH and that a second bTSH cutoff of 5.0 mU/L is appropriate for identifying preterm newborns and babies with associated risk factors.

[Analysis of the implementation of a unified transportation system of the neonatal screening samples in Catalonia.] / Análisis de la implementación de un sistema de transporte unificado de las muestras de cribado neonatal en Cataluña.

The Neonatal Screening Program in Catalonia from its inception fifty years ago until today, has enabled the early diagnosis and treatment of more than 2,000 newborns. In the last decade, the Program has undergone various extensions regarding its panel of diseases and has improved its evaluation with the inclusion of quality indicators in all its stages. One of the pending subjects of the screening program has been the improvement of the quality indexes related to the sample's arrival time to the laboratory after their extraction. The extension of the territory, the dispersion of numerous maternal centers, as well as the diversity and heterogeneity of the sample transport systems, have been an obstacle to quality compliance of these indexes. With the aim of reducing the period of samples arrival to the laboratory and continue to move towards meeting the standards established by the Ministry of Health, in 2020 a unified sample transport system has been implemented for the entire Catalan territory. The times obtained during the first months with the new system, have shown a notable improvement in the results, achieving a reduction of 50% of the days between the extraction of the sample and its arrival at the laboratory.

El Programa de Cribado Neonatal (PCN) de Cataluña ha permitido el diagnóstico y tratamiento precoz de más de 2.000 recién nacidos desde su inicio hace cincuenta años hasta la actualidad. En la última década, el PCN ha experimentado diversas ampliaciones en cuanto a su panel de enfermedades y ha mejorado su evaluación con la inclusión de indicadores de calidad en todas sus etapas. Una de las asignaturas pendientes del programa de cribado ha sido la mejora de los indicadores relativos al tiempo de llegada de las muestras al laboratorio desde su extracción. La extensión territorial, la dispersión de los sesenta y seis centros maternales, así como la diversidad y heterogeneidad de los sistemas de transporte de muestras, han supuesto un obstáculo para el cumplimiento de la calidad de este indicador. Con el objetivo de reducir el período de llegada de las muestras al laboratorio y seguir avanzando en el cumplimiento de los estándares establecidos por el Ministerio de Sanidad, en 2020 se ha implementado un sistema de transporte de muestras unificado para todo el territorio catalán. Los tiempos obtenidos durante los primeros meses con el nuevo sistema muestran una mejora notable de los resultados, consiguiendo una reducción del 50% de los días transcurridos desde la extracción de la muestra hasta su llegada al laboratorio.

[The role of Public Health as a key to the success of the neonatal screening program in the Basque Country.] / El papel de la Salud Publica como clave del éxito del Programa de Cribado Neonatal en el País Vasco.

Neonatal Screening Programs (PCN) have widely demonstrated their benefits since Dr. Guthrie published his developments on Phenylketonuria (PKU) in 1961. This paper describes how a simple and effective organization, which incorporates all the fundamental actors under the responsibility of the Public Health Directorate (DSP), has managed to ensure that the PCN of the Basque Country meets all the objectives required for a population screening. The acceptance by Basque society of the PCN allowed it to exceed 95% coverage in its second year of operation. Likewise, the limited negative social impact of PCN is evidenced by its low number of false positives and incorrect samples. Excellent response times allow every newborn with a positive result to have an early diagnosis and optimal initiation of treatment. There are two relevant experiences that support the importance of the effective exercise of the responsibility of the DSP. Congenital adrenal hyperplasia (CAH) was incorporated into the PCN in 1991 meeting all technical and clinical criteria. At the request of the experts, the DSP ordered in 1993 to cease this activity showing that it did not provide the expected benefits. The problems of organically integrating the PCN into the healthcare system were also experienced. The need to compete for resources put public health activities, including the PCN, at risk and led to their return to direct dependence on the DSP. The availability of this structure, in addition to facilitating the incorporation of other screenings, allows facing the future challenges.

Los Programas de Cribado Neonatal (PCN) han demostrado ampliamente sus beneficios desde que en 1961 el Dr. Guthrie publicó sus trabajos sobre Fenilcetonuria (PKU). En este trabajo se describe cómo una organización sencilla y eficaz, que incorpora a todos los actores fundamentales bajo la responsabilidad de la Dirección de Salud Pública (DSP), ha conseguido que el PCN del País Vasco cumpla con todos los objetivos exigibles a un cribado poblacional. La aceptación por la sociedad vasca del PCN permitió superar el 95% de cobertura en su segundo año de funcionamiento. Asimismo, el limitado impacto social negativo del PCN se evidencia por su reducido número de falsos positivos y de muestras incorrectas. Los excelentes tiempos de respuesta permiten que todo recién nacido con resultado positivo disponga de un diagnóstico temprano y de un inicio óptimo del tratamiento. Hay dos experiencias relevantes que avalan la importancia del ejercicio eficaz de la responsabilidad de la DSP. La hiperplasia adrenal congénita (HAC) se incorporó en 1991 al PCN, cumpliendo con todos los criterios técnicos y clínicos. A petición de los expertos, la DSP ordenó en 1993 cesar esta actividad al evidenciar que no aportaba los beneficios esperados. También se experimentaron los problemas de integrar orgánicamente el PCN en el sistema asistencial. La necesidad de competir por los recursos puso en riesgo las actividades de Salud Pública, incluyendo el PCN, lo que provocó su retorno a la dependencia directa de la DSP. La disponibilidad de esta estructura, además de facilitar la incorporación de otros cribados, permite afrontar los retos del futuro.

[50 years of the Neonatal Screening Program in Catalonia.] / 50 años del Programa de Cribado Neonatal en Cataluña.

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included.

El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados.

[Evaluation of COVID-19 emergency and state of alarm impact on Neonatal Screening Programs in Madrid: endocrine and metabolic disorders program and hearing program review.] / Evaluación rápida del impacto de la crisis sanitaria generada por la epidemia de COVID-19 en los programas de cribado neonatal en la Comunidad de Madrid: programa de cribado neonatal de enfermedades endocrino-metabólicas y programa de detección precoz de hipoacusia en recién nacidas/os.

OBJECTIVE: Under the declaration of the state of alarm (SA) in efforts to control COVID-19, normal development of health programs was threatened. The aim of the study was the evaluation of COVID 19 emergency and SA approval impact on neonatal Endocrine and Metabolic Disorders Program (EMDP) and Neonatal Hearing Program (HP) in Madrid. METHODS: Qualitative and quantitative descriptive study was conducted. Semistructured interview was designed and developed to picture newborn screening activities taking place from January 1st to 31st of April 2020. To describe the undergo rates of newborn screening, neonatal screening information system (RECRINE) and martenity and prenatal care units were studied. Differences were analyzed using Chi2 test (p value = 0.05). RESULTS: More than 70% interviews were reported. Early hospital discharges, between 24 and 48h, were made in more than 80% hospitals. Screening programs were adapted in more than 75% health care centers. EMDP 19 diseases, RECRINE and Clinical Reference Units (RCU) referral were conducted. No significant incidences were observed in diagnostic confirmation and treatment in the RCU. RCU were adapted because of the reorganization of health care. 88.5% of the hospitals showed higher than 95% coverage rates on Hearing screening and SEM. No differences were observed compared to the pre-epidemic period. CONCLUSIONS: Our study demonstrates PCN professionals resilience. The importance of designing periodic evaluations to understand and alleviate the COVID-19 impact is remarkable. We need to assure 2020 newborns attention health care quality.

OBJETIVO: El estado de alarma decretado como medida de control de la epidemia COVID-19 supuso una amenaza en el correcto desarrollo de los programas de salud de la Comunidad de Madrid. El objetivo de este trabajo fue evaluar el impacto de la epidemia por COVID-19 y el estado de alarma decretado en los Programas de Cribado Neonatal (PCN) de Enfermedades Endocrino-Metabólicas (EEM) e hipoacusias en la Comunidad de Madrid. METODOS: Se realizó un estudio descriptivo cuali-cuantitativo del 1 enero al 31 abril de 2020. Para describir las actividades desarrolladas en las etapas de los PCN se diseñaron cuestionarios semiestructurados. Para conocer las coberturas de cribado se analizaron el REgistro de CRIbado Neonatal (RECRINE) e información de los Servicios de Maternidad. Se analizaron diferencias utilizando el test de Chi2 (p valor=0,05). RESULTADOS: Las tasas de respuesta a los cuestionarios fueron mayores del 70%. Más del 80% de los hospitales dieron altas precoces entre las 24 y 48 horas de vida del recién nacido. Se diseñaron circuitos alternativos para realizar los PCN en más del 75% de los centros. Se aseguró el cribado de las diecinueve enfermedades del PCN de EEM, el RECRINE y la derivación a las Unidades Clínicas de Referencia (UCR). No se observaron incidencias importantes en confirmación diagnóstica y tratamiento en las UCR que se adaptaron a la reorganización de la asistencia sanitaria. Se observaron coberturas de cribado auditivo y de EEM superiores al 95% en el 88,5% de los hospitales. No se observaron diferencias frente al periodo preepidémico. CONCLUSIONES: Nuestro estudio demuestra la resiliencia de los profesionales que participan en el desarrollo de los PCN. Es remarcable la importancia de continuar diseñando evaluaciones periódicas para conocer y subsanar el impacto de la epidemia de COVID-19 según los estándares de calidad de atención a la población nacida en 2020 y sus madres.

Improving Evaluation and Treatment of Hyperbilirubinemia in Late Preterm Infants.

Late preterm (LPT) infants are at an increased risk for hyperbilirubinemia. Accurate identification and early treatment are needed for optimal health outcomes. In a newborn nursery at an academic medical center, bilirubin levels were drawn at 24 hours of life, per protocol. These infants were rarely treated at this time. Rather, predischarge bilirubin levels (at about 48 hours of life) would indicate treatment, often leading to increased length of hospital stay. The practice change evaluation was conducted using retrospective medical record review. Practice change to test serum bilirubin levels at 36 hours of life rather than 24 hours of life. Compliance with the practice change was achieved (P < .05). More LPT infants were identified and treated for hyperbilirubinemia without an increase in length of stay. Readmissions for hyperbilirubinemia and blood draw rates also declined. Although more LPT infants were identified and treated for hyperbilirubinemia, there is room for improvement, and increased adherence to the policy might yield an even greater impact on quality and safety of care surrounding bilirubin management.

Does the involvement of first-year residents have a negative impact on the performance of a newborn hearing screening program?

OBJECTIVES: We aimed to evaluate the efficiency of our hearing screening program, prior to hospital discharge, together with the consistency of our teamwork including first year residents by assessing a learning curve for the operators involved. METHODS: We evaluated all the data collected during the first stage of the screening program of all non-NICU neonates from March 2009 to July 2013, analyzing by means of a linear regression model, the monthly referral rate for the whole period of activity of each group of residents. RESULTS: performances of each group of screeners were statistically different (chi square test p < 0.005). The nptrend test showed that group 2 (p = 0.01) and group 4 (p = 0.01) reached a statistical significance in higher and lower referral rates respectively. No statistical differences were found in other groups (Group 1 p = 0.161; Group 3 p = 0.853). CONCLUSION: Despite a statistically significant difference in the performances between the groups of residents, the referral rates for each group (range 6.18%-9.29%) and the overall referral rate for the whole period (7.84%) agree with the values commonly reported for TEOAEs in the literature. It means that our screening program is reasonably effective despite a yearly turnover of operators.

Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.

BACKGROUND: Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care programme. Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed. We aimed to test the feasibility of implementing a sickle cell disease screening programme using innovative point-of-care test devices into existing immunisation programmes in primary health-care settings. METHODS: Building on a routine immunisation programme and using existing facilities and staff, we did a prospective feasibility study at five primary health-care centres within Gwagwalada Area Council, Abuja, Nigeria. We systematically screened for sickle cell disease consecutive newborn babies and infants younger than 9 months who presented to immunisation clinics at these five centres, using an ELISA-based point-of care test (HemoTypeSC). A subgroup of consecutive babies who presented to immunisation clinics at the primary health-care centres, whose mothers gave consent, were tested by the HemoTypeSC point-of-care test alongside a different immunoassay-based point-of-care test (SickleSCAN) and the gold standard test, high-performance liquid chromatography (HPLC). FINDINGS: Between July 14, 2017, and Sept 3, 2019, 3603 newborn babies and infants who presented for immunisation were screened for sickle cell disease at five primary health-care centres using the ELISA-based point-of-care test. We identified 51 (1%) children with sickle cell anaemia (HbSS), four (<1%) heterozygous for HbS and HbC (HbSC), 740 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA and HbC (HbAC), and 2774 (77%) with normal haemoglobin (HbAA). Of the 55 babies and infants with confirmed sickle cell disease, 41 (75%) were enrolled into a programme for free folic acid and penicillin, of whom 36 (88%) completed three visits over 9 months (median follow-up 226 days [IQR 198-357]). The head-to-head comparison between the two point-of-care tests and HPLC showed concordance between the three testing methods in screening 313 newborn babies, with a specificity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC, and a sensitivity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC. INTERPRETATION: Our pilot study shows that the integration of newborn screening into existing primary health-care immunisation programmes is feasible and can rapidly be implemented with limited resources. Point-of-care tests are reliable and accurate in newborn screening for sickle cell disease. This feasibility study bodes well for the care of patients with sickle cell disease in resource-poor countries. FUNDING: Doris Duke Charitable Foundation, Imperial College London Wellcome Trust Centre for Global Health Research, and Richard and Susan Kiphart Family Foundation.

Early access to biological neonatal screening: coordination among child care action programs.

OBJECTIVE: To verify factors associated with early newborn access to biological neonatal screening. METHOD: A cross-sectional quantitative study was carried out with all newborns who underwent tests in healthcare units, hospitals, and laboratories of a city in the state of São Paulo, Brazil, with programs linking healthcare information. The following variables were investigated: child's age at collection (dependent); place of collection; date of collection; and type of user (independent). Descriptive and inferential statistics were applied. RESULTS: Records of 15,652 screenings were found in the two years analyzed. In the first year analyzed, 7,955 births and 7,640 (96.0%) tests were recorded, of which 5,586 (73.1%) were undertaken with newborns between three and five days old. In the next year analyzed, 8,316 births and 8,012 (96.3%) screenings were recorded, of which 7,025 (87.6%) were undertaken with newborns in the same age group. A statistically significant association was found between the variables "child's age" and "type of user" in one year, and between the variables "child's age" and "place of collection" in both years. CONCLUSION: Early access to these tests enables the screening of diseases and referral for treatment. The present study contributes to the management of child care programs by presenting strategies linking data and actions to improve access to biological neonatal screening.

Video-call based newborn triage system for local birth centres can be established without major instalment costs using commercially available smartphones.

Neonates often develop transition problems after low-risk birth, precise assessment of which is difficult at primary birth centres. The aim of this study was to assess whether a video triage system can be established without a specially designed communication system between local birth centres and a tertiary neonatal intensive care unit in a region with a population of 700,000. 761 neonates who were referred to a tertiary neonatal intensive care unit were examined. During period 1 (April 2011-August 2015), only a voice call was available for consultations, whereas, during period 2 (September 2015-December 2017), a video call was additionally available. The respiratory condition was assessed based on an established visual assessment tool. A video consultation system was established by connecting personal smartphones at local birth centres with a host computer at a tertiary neonatal intensive care centre. During period 2, video-based triage was performed for 42.4% of 236 consultations at 30 birth centres. Sensitivity and specificity for predicting newborns with critical respiratory dysfunction changed from 0.758 to 0.898 and 0.684 to 0.661, respectively. A video consultation system for ill neonates was established without major instalment costs. Our strategy might improve the transportation system in both high- and low-resource settings.