Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.

Importance: Recent changes in China's social medical insurance reimbursement policy have impacted the financial burden of patients with phenylketonuria (PKU) for special foods. However, whether this policy change is associated with their blood phenylalanine (PHE) concentration is unclear. Objective: To investigate the association between the reimbursement policy and blood PHE concentration in patients with PKU. Design, Setting, and Participants: This cohort study measured the blood PHE concentrations of 167 patients with PKU across 4 newborn screening centers in China from January 2018 to December 2021. The reimbursement policy for special foods for patients with PKU at 2 centers was canceled in 2019 and restored from 2020 onwards. In contrast, the other 2 centers consistently implemented the policy. Data were analyzed from September 10 to December 6, 2023. Exposures: The implementation and cancelation of the reimbursement policy for special foods of patients with PKU. Main Outcomes and Measures: The blood PHE concentration was regularly measured from 2018 to 2021. A 1-sided Z test was used to compare the mean of the blood PHE concentration between different years. Results: Among 167 patients with PKU (mean [SD] age, 84.4 [48.3] months; 87 males [52.1%]), a total of 4285 measurements of their blood PHE concentration were collected from 2018 to 2021. For patients at the center that canceled the reimbursement policy in 2019, the mean (SD) of the blood PHE concentrations in 2019 was 5.95 (5.73) mg/dL, significantly higher than 4.84 (4.11) mg/dL in 2018 (P < .001), 5.06 (5.21) mg/dL in 2020 (P = .006), and 4.77 (4.04) mg/dL in 2021 (P < .001). Similarly, for patients at the other center that canceled the policy in 2019, the mean (SD) of the blood PHE concentrations in 2019 was 5.95 (3.43) mg/dL, significantly higher than 5.34 (3.45) mg/dL in 2018 (P = .03), 5.13 (3.15) mg/dL in 2020 (P = .003), and 5.39 (3.46) mg/dL in 2021 (P = .03). On the contrary, no significant difference was observed between any of the years for patients at the 2 centers that consistently implemented the policy. Conclusions and Relevance: In this cohort study of patients with PKU from multiple centers, the implementation of the reimbursement policy for special foods was associated with controlling the blood PHE concentration. Special foods expenditure for patients with PKU should be included in the scope of long-term social medical insurance reimbursement.

Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.

Background: Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by multiple benefits and harms, are justifiable. It is not known what benefits and harms have been adopted by economic evaluations assessing these programmes and whether they omit benefits and harms considered important to relevant stakeholders. Objectives: (1) To identify the benefits and harms adopted by health economic assessments in this area, and to assess how they have been measured and valued; (2) to identify attributes or relevance to stakeholders that ought to be considered in future economic assessments; and (3) to make recommendations about the benefits and harms that should be considered by these studies. Design: Mixed methods combining systematic review and qualitative work. Systematic review methods: We searched the published and grey literature from January 2000 to January 2021 using all major electronic databases. Economic evaluations of an antenatal or newborn screening programme in one or more Organisation for Economic Co-operation and Development countries were considered eligible. Reporting quality was assessed using the Consolidated Health Economic Evaluation Reporting Standards checklist. We identified benefits and harms using an integrative descriptive analysis and constructed a thematic framework. Qualitative methods: We conducted a meta-ethnography of the existing literature on newborn screening experiences, a secondary analysis of existing individual interviews related to antenatal or newborn screening or living with screened-for conditions, and a thematic analysis of primary data collected with stakeholders about their experiences with screening. Results: The literature searches identified 52,244 articles and reports, and 336 unique studies were included. Thematic framework resulted in seven themes: (1) diagnosis of screened for condition, (2) life-years and health status adjustments, (3) treatment, (4) long-term costs, (5) overdiagnosis, (6) pregnancy loss and (7) spillover effects on family members. Diagnosis of screened-for condition (115, 47.5%), life-years and health status adjustments (90, 37.2%) and treatment (88, 36.4%) accounted for most of the benefits and harms evaluating antenatal screening. The same themes accounted for most of the benefits and harms included in studies assessing newborn screening. Long-term costs, overdiagnosis and spillover effects tended to be ignored. The wide-reaching family implications of screening were considered important to stakeholders. We observed good overlap between the thematic framework and the qualitative evidence. Limitations: Dual data extraction within the systematic literature review was not feasible due to the large number of studies included. It was difficult to recruit healthcare professionals in the stakeholder's interviews. Conclusions: There is no consistency in the selection of benefits and harms used in health economic assessments in this area, suggesting that additional methods guidance is needed. Our proposed thematic framework can be used to guide the development of future health economic assessments evaluating antenatal and newborn screening programmes. Study registration: This study is registered as PROSPERO CRD42020165236. Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR127489) and is published in full in Health Technology Assessment; Vol. 28, No. 25. See the NIHR Funding and Awards website for further award information.

Every year the NHS offers pregnant women screening tests to assess the chances of them or their unborn baby having or developing a health condition. It also offers screening tests for newborn babies to look for a range of health conditions. The implementation of screening programmes and the care for women and babies require many resources and funding for the NHS, so it is important that screening programmes represent good value for money. This means that the amount of money the NHS spends on a programme is justified by the amount of benefit that the programme gives. We wanted to see whether researchers consider all the important benefits and harms associated with screening of pregnant women and newborn babies when calculating value for money. To do this, we searched all studies available in developed countries to identify what benefits and harms they considered. We also considered the views of parents and healthcare professionals on the benefits and harms screening that creates for families and wider society. We found that the identification of benefits and harms of screening is complex because screening results affect a range of people (mother­baby, parents, extended family and wider society). Researchers calculating the value for money of screening programmes have, to date, concentrated on a narrow range of benefits and harms and ignored many factors that are important to people affected by screening results. From our discussions with parents and healthcare professionals, we found that wider impacts on families are an important consideration. Only one study we looked at considered wider impacts on families. Our work also found that parent's ability to recognise, absorb and apply new information to understand their child's screening results or condition is important. Healthcare professionals involve in screening should consider this when supporting families of children with a condition. We have created a list for researchers to identify the benefits and harms that are important to include in future studies. We have also identified different ways researchers can value these benefits and harms, so they are incorporated into their studies in a meaningful way.

Cost-effectiveness of newborn screening for sickle cell disease: a systematic review protocol.

OBJECTIVE: The purpose of this systematic review is to assess the cost-effectiveness of targeted/selective newborn screening compared with universal screening for sickle cell disease across various countries and settings. INTRODUCTION: The incidence of sickle cell disease is a widespread and potentially fatal hematologic disorder that affects thousands of newborns worldwide. The cost of newborn screening creates a burden on households and the economy. INCLUSION CRITERIA: Studies will be eligible for inclusion in the review if they focus on the cost-effectiveness of newborn screening for sickle cell disease, comparing targeted/selective screening with universal screening. METHODS: A preliminary search of MEDLINE (PubMed) was undertaken using MeSH terms, such as sickle cell disease, newborn , and economic evaluations . Two reviewers will screen the titles, abstracts, and full text independently against the inclusion criteria. Disagreements will be resolved by discussion or with a third reviewer. To assess methodological quality, the JBI checklist for economic evaluation will be used. Data will be extracted by 2 reviewers using a modified JBI data extraction form. The JBI dominance ranking matrix for economic evaluations will be used to summarize and compare the results. Cost-effectiveness will be measured on the basis of cost per test/case detected, quality-adjusted life years gained, or disability-adjusted life years averted. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) assessment will be conducted to evaluate the certainty of economic evidence, such as use of resources and expenditures, and to incorporate the results into the decision-making process. REVIEW REGISTRATION: PROSPERO CRD42017057963.

Retinopathy of prematurity screening and treatment cost in Brazil / Costo de la detección y el tratamiento de la retinopatía de la prematuridad en el Brasil

OBJECTIVE: To assess the additional cost of incorporating the detection and treatment of retinopathy of prematurity (ROP) into neonatal care services of Brazil's Unified Health System (SUS). METHODS: A deterministic decision-tree simulation model was built to estimate the direct costs of screening for and treating ROP in neonatal intensive-care units (NICUs), based on data for 869 preterm infants with birth weight less than 1 500 g examined in six governmental NICUs in the capital city of Rio de Janeiro, where coverage was 52% and 8% of infants were treated. All of the parameters from this study were extrapolated to Brazilian newborn estimates in 2010. Costs of screening and treatment were estimated considering staff, equipment and maintenance, and training based on published data and expert opinion. A budget impact analysis was performed considering the population of preterm newborns, screening coverage, and the incidence of treatable ROP. One- and two-way sensitivity analyses were performed. RESULTS: In Rio de Janeiro, unit costs per newborn were US$ 18 for each examination, US$ 398 per treatment, and US$ 29 for training. The estimated cost of ROP diagnosis and treatment for all at-risk infants NICUs was US$ 80 per infant. The additional cost to the SUS for one year would be US$ 556 640 for a ROP program with 52% coverage, increasing to US$ 856 320 for 80% coverage, and US$ 1.07 million or 100% coverage. CONCLUSIONS: The results of this study indicate that providing ROP care is affordable within the framework of the SUS in Brazil, and might be feasible elsewhere in Latin America, considering the evidence of the effectiveness of ROP treatment and the social benefits achieved.

OBJETIVO: Evaluar el costo adicional de incorporar la detección y el tratamiento de la retinopatía de la prematuridad (RP) en los servicios de atención neonatal del Sistema Único de Salud (SUS) del Brasil. MÉTODOS: Se estableció un modelo de simulación determinístico en forma de árbol de decisión para calcular los costos directos del tamizaje y el tratamiento de la RP en las unidades de cuidados intensivos neonatales (UCIN), con base en los datos correspondientes a 869 lactantes prematuros con un peso al nacer inferior a 1 500 g examinados en seis UCIN gubernamentales de Rio de Janeiro, capital del estado del mismo nombre, donde la cobertura fue de 52% y se trató a un 7% de los lactantes. Todos los parámetros de este estudio se extrapolaron a los cálculos de recién nacidos brasileños correspondientes al año 2010. Se calcularon los costos de la detección y el tratamiento, teniendo en cuenta el personal, el equipo y la capacitación, con base en los datos publicados y la opinión de los expertos. Se llevó a cabo un análisis de la repercusión presupuestaria considerando la población de recién nacidos prematuros, la cobertura del tamizaje y la incidencia de RP susceptible de tratamiento. Se realizaron análisis de sensibilidad en uno y dos sentidos. RESULTADOS: En Rio de Janeiro, los costos unitarios por recién nacido fueron de US$ 18 por cada examen, US$ 398 por tratamiento y US$ 29 por capacitación. El costo calculado del diagnóstico y el tratamiento de la RP en todos los lactantes en situación de riesgo de las UCIN fue de US$ 80 por lactante. El costo anual adicional para el SUS de un programa de RP con una cobertura de 52% sería de US$ 556 640, y ascendería a US$ 856 320 para una cobertura de 80%, y a US$ 1,07 millones si la cobertura fuera de 100%. CONCLUSIONES: Los resultados de este estudio indican que, teniendo en cuenta los datos probatorios de la eficacia del tratamiento de la RP y los beneficios sociales obtenidos, la prestación de asistencia a la RP es asequible en Brasil en el marco del SUS y podría ser factible en otros lugares de América Latina.

Triagem neonatal para hiperplasia adrenal congênita / Neonatal screening for congenital adrenal hyperplasia

OBJETIVO: A eficácia da triagem neonatal para redução de morbimortalidade das crianças com hiperplasia adrenal congênita (HAC) é a principal justificativa para sua implantação. Um dos desafios para sua realização é a determinação do ponto de corte para a medida laboratorial da 17-hidroxiprogesterona (17OHP) que apresente adequado custo/benefício. Neste estudo foram identificados fatores intervenientes nos resultados do projeto-piloto de triagem neonatal para HAC, realizado em Minas Gerais. MÉTODOS: Rastreamento neonatal entre 09/2007 e 05/2008, com dosagens da 17OHP de amostras de sangue colhidas no calcanhar, no 5º dia de vida (papel-filtro), processadas pelo método UMELISA 17-OH Progesterona NEONATAL®. Os pontos de corte foram 80 e 160 nmol/L, para crianças saudáveis ou não, respectivamente. RESULTADOS: A incidência de HAC foi 1:19.939 em 159.415 crianças triadas. O percentil 99 (p99) da 17OHP, na primeira amostra, foi 108 nmol/L. Em 13.298 recém-nascidos com peso informado, os p99 da 17OHP foram, respectivamente, 344 nmol/L para <1500 g, 260 nmol/L para 1500 a 1999 g, 221 nmol/L para 2000 a 2499 g, e 109 nmol/L para > 2500 g. A taxa de reconvocação para consulta médica foi 0,31%. A sensibilidade do teste foi 100%, a especificidade, 99,6% e o valor preditivo positivo, 2,2%. Ajustando-se o ponto de corte da 17OHP para 110 nmol/L e 220 nmol/L, projetou-se redução em 76% dos encaminhamentos para consulta. CONCLUSÃO: Adoção dos pontos de corte para 17OHP, considerando peso de nascimento, apresentou-se como medida custo-efetiva para redução de falso-positivos. Os resultados desse estudo piloto sugerem que a triagem para HAC possa beneficiar a população infantil.

OBJECTIVE: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH) is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP) with appropriate cost-effectiveness. This study identified factors affecting the results of the pilot project of newborn screening for CAH, performed in the state of Minas Gerais, Brazil. METHODS: Neonatal screening performed between September, 2007 and May, 2008, with 17OHP measurements performed in blood samples taken from the heel (filter paper), on the 5th day of life, processed by the UMELISA 17-OH Progesterona NEONATAL® method. The cutoff value was 80 and 160 nmol/L for healthy children or not, respectively. RESULTS: The incidence of CAH was 1:19,939 in 159,415 children screened. The 99th percentile (p99) of 17OHP in the first sample was 108 nmol/L. In 13,298 newborns whose weight had been reported, the p99 of 17OHP were, respectively: 344 nmol/L for weight < 1,500 g; 260 nmol/L for weight between 1,500 and 1,999 g; 221 nmol/L for weight between 2,000 and 2,499 g; 109 nmol/L for weight > 2,500g. The rate of recall for medical consultation was 0.31%. The test sensitivity was 100%, specificity was 99.6%, and the positive predictive value was 2.2%. By adjusting the cutoff values of 17OHP to 110 nmol/L and 220 nmol/L, a 76% decrease in consultation referrals was projected. CONCLUSION: The use of 17OHP cutoff values, considering birth weight, was a cost-effective measure to reduce false positives. The results of this pilot study suggest that screening for CAH might benefit the pediatric population.

Overview of newborn hearing screening activities in Latin America / Panorama de las actividades de examen sistemático de la capacidad auditiva en recién nacidos en América Latina

OBJECTIVE: Ascertain the status of early hearing detection and intervention services in Latin America. METHODS: Between June and November 2007, Gallaudet University, in collaboration with the U.S. Centers for Disease Control and Prevention Early Hearing Detection and Intervention Diversity Committee, disseminated a survey to 11 Latin American countries. It included questions about newborn hearing screening (NHS) procedures, the availability of intervention services for infants with hearing loss, and challenges in identifying infants with hearing loss. In addition, a literature review was conducted to help identify the status of NHS efforts in Latin America. RESULTS: Six countries (Chile, Costa Rica, Guatemala, Mexico, Panama, and Uruguay) and one U.S. territory (Puerto Rico) responded to the survey. Responses indicated that efforts to identify infants with hearing loss vary within and across countries in Latin America. In some countries, activities have been implemented at a national level; in others, activities have been implemented at a single hospital or region within a country. Common barriers to implementation of NHS programs include a lack of funding, screening and diagnostic equipment, public awareness, and personnel qualified to work with infants and young children. CONCLUSIONS: In spite of several barriers, NHS programs have been implemented in at least some facilities and regions in Latin America. Additional efforts are needed to expand NHS activities in Latin America.

OBJETIVO: Evaluar la situación de los servicios de detección e intervención tempranas de problemas auditivos en América Latina. MÉTODOS: Entre junio y noviembre del 2007, la universidad Gallaudet, en colaboración con el Comité de Diversidad del Programa de Detección Auditiva e Intervención Tempranas de los Centros para el Control y la Prevención de Enfermedades de los Estados Unidos, distribuyó un cuestionario en 11 países latinoamericanos. El cuestionario incluía preguntas acerca de los procedimientos de examen sistemático de la capacidad auditiva en recién nacidos, la disponibilidad de servicios de intervención para menores de un año hipoacúsicos y los retos para detectarlos. Además, se efectuó una revisión bibliográfica para ayudar a determinar el estado de las iniciativas de examen sistemático de la audición en recién nacidos en América Latina. RESULTADOS: Respondieron a la encuesta seis países (Chile, Costa Rica, Guatemala, México, Panamá y Uruguay) y un territorio de los Estados Unidos (Puerto Rico). Las respuestas indicaron que los esfuerzos para detectar a los menores de un año hipoacúsicos varían dentro de cada país y de un país a otro en América Latina. En algunos países se han realizado actividades a nivel nacional; en otros, en un único hospital o zona del país. Los factores que con frecuencia obstaculizan la puesta en práctica de los programas de examen sistemático de la audición en recién nacidos incluyen la falta de financiamiento, de equipos de tamizaje y diagnóstico, de concientización del público y de personal capacitado para atender a menores de un año y niños pequeños. CONCLUSIONES: A pesar de que existen varios obstáculos, se han ejecutado programas de examen sistemático de la audición en recién nacidos en al menos algunos establecimientos de salud y zonas de América Latina. Se necesitan esfuerzos mayores para ampliar estas actividades en América Latina.

Estimated incidence of sickle-cell disease in Aruba and St Maarten suggests cost-effectiveness of a universal screening programme for St Maarten / Incidencia estimada de la enfermedad de células falciformes en Aruba y St Marteen sugiere costo-efectividad para un programa de pesquisaje universal para St Marteen

OBJECTIVE: To estimate the incidence of Sickle-Cell Disease (SCD) in Aruba and St Maarten and to determine whether universal screening would be costeffective according to United Kingdom criteria. METHODS: Consecutive cord blood samples were collected in Aruba and the Dutch part of St Maarten during 3 and 4 months, respectively. Samples were subjected to High Performance Liquid Chromatography (HPLC) screening of haemoglobin variants. RESULTS: Of the 368 samples (87.6% of all registered births) collected in Aruba, 10 (2.72%; CI 1.3, 4.9%) tested heterozygous for the Sickle-cell gene (HbAS) and 7 (1.90%; CI 0.8, 3.9%) for the haemoglobin C gene (HbAC). Of the 193 samples (83.5%) collected in St Maarten, 14 (7.25%; CI 4.0, 11.9%) contained HbAS and 10 (5.18%; CI 2.5, 9.3%) HbAC. HardyWeinberg equilibrium predicted an incidence of 2.65% for HbAS and 1.86% for HbAC in Aruba and 6.80% for HbAS and 4.86% for HbAC in St Maarten. These figures imply a newborn rate of about 2 SCD patients per 3 years in Aruba and 2 SCD patients per year in St Maarten. CONCLUSIONS: Universal screening of newborns for SCD seems costeffective for St Maarten.

OBJETIVO: Estimar la incidencia de la enfermedad de células falciformes (ECF) en Aruba y St Marteen y determinar si una pesquisaje universal sería costoefectivo de acuerdo con los criterios del Reino Unido. MÉTODOS: Se recogieron muestras de sangre de cordón umbilical en Aruba y en la parte holandesa de St Maarten durante 3 y 4 meses, respectivamente. Las muestras fueron sometidas a pesquisaje de variantes de hemoglobina mediante cromatografía líquida de alta eficiencia (CLAE). RESULTADOS: De las 368 muestras (87.6% de todos los nacimientos registrados) recogidas en Aruba, 10 (2.72%; CI 1.3, 4.9%) resultaron heterocigóticos para el gen de la célula falciforme (HbAS) y 7 (1.90%; CI 0.8, 3.9%) para el gen de la hemoglobina C (HbAC). De las 193 muestras (83.5%) recogidas en St Maarten, 14 (7.25%; CI 4.0, 11.9%) contenían HbAS y 10 (5.18%; CI 2.5, 9.3%) HbAC. El equilibrio de HardyWeinberg predijo una incidencia de 2.65% para HbAS y 1.86% para HbAC en Aruba y 6.80% para HbAS y 4.86% para HbAC en St Maarten. Estas cifras implican una tasa de recién nacidos de alrededor de 2 pacientes ECF por año en St Maarten. CONCLUSIONES: El pesquisaje universal para la detección de recién nacidos ECF parecer ser costoefectivo para St Maarten.

Avaliação do Serviço de Referência em Triagem Neonatal para hipotireoidismo congênito e fenilcetonúria no Estado de Mato Grosso, Brasil / Evaluation of the Neonatal Screening Program for congenital hypothyroidism and phenylketonuria in the State of Mato Grosso, Brazil

OBJETIVO: Avaliar o Serviço de Referência em Triagem Neonatal para hipotireoidismo congênito e fenilcetonúria no Estado de Mato Grosso. MÉTODOS: Estudo transversal, utilizando-se dados secundários dos exames realizados no período de janeiro de 2003 a dezembro de 2004. RESULTADOS: Foram feitos 66.337 testes de triagem com uma cobertura populacional inferior a 70%. A prevalência de fenilcetonúria foi de 1:33.068 nascidos vivos, e de hipotireoidismo congênito foi de 1:9.448 nascidos vivos. Apenas 22% das amostras foram coletadas na idade recomendada; a maioria realizou o teste de triagem entre 8 e 30 dias de vida. A mediana da idade na coleta do teste foi de 12 dias. Verificou-se que o serviço teve dificuldades na reconvocação dos casos suspeitos e dificuldades financeiras na obtenção dos insumos laboratoriais. CONCLUSÕES: A idade na coleta e o atraso na fase de confirmação diagnóstica foram os principais motivos para o atraso do início do tratamento dos casos detectados pelo serviço.

OBJECTIVE: To evaluate the Reference Center for Neonatal Screening for congenital hypothyroidism and phenylketonuria for the State of Mato Grosso. METHOD: Cross-sectional study using secondary data of screening tests carried out from January 2003 to December 2004. RESULTS: 66,337 exams were conducted with population coverage of less than 70%. The prevalence of phenylketonuria was 1:33,068 live births and of congenital hypothyroidism was 1:9,448 live births. Only 22% of the samples were collected at the recommended ag, and most of the samples were collected between the ages of 8 and 30 days. The median age at collection was 12 days. It was observed that the service had difficulties in recalling suspected cases and financial difficulties in obtaining laboratorial reagents. CONCLUSIONS: The age at the time of collection and the delay at the diagnostic confirmation stage were the principal reasons for the delay in the initiation of treatment of the cases detected by the service.

Dried blood spots as a practical and inexpensive source for human immunodeficiency virus and hepatitis C virus surveillance

Passive surveillance of infectious diseases with a high percentage of asymptomatic cases or long incubation periods, such as acquired immunodeficiency syndrome (AIDS), does not reflect the current transmission dynamics. Thus, a multi-strategic surveillance, such as the human immunodeficiency virus (HIV) sentinel surveillance proposed by the World Health Organization (WHO), is necessary. The Brazilian HIV sentinel surveillance was started in May 1992 with this purpose. The objectives of this study were to evaluate the feasibility and costs of HIV and hepatitis C virus (HCV) surveillance using dried blood spots (DBS) collected for neonatal screening of metabolic diseases in the state of Minas Gerais, Brazil. This was accomplished through the comparison of HIV and HCV seroprevalence with previous Brazilian studies. From December 2001 to June 2002, 24,905 newborns were tested for HIV and 4211 for HCV. HIV seroprevalence was 0.25 percent and the 95 percent confidence interval (CI) was 0.18, 0.31 percent; and HCV seroprevalence was 0.71 percent and the 95 percent CI was 0.46, 0.97 percent. These numbers are similar to previous Brazilian studies. Cost in this study was approximately US$ 3.10 per sample, which was roughly one third of the cost of the same exam at the Brazilian HIV sentinel surveillance. We conclude that it is possible and more cost-effective to use DBS for infectious diseases surveillance, albeit it is still necessary to compare these results with the usual sentinel methodology in a concomitant trial.

A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45, X Turner syndrome

Turner syndrome (TS) is one of the most common human chromosomal abnormalities; it is characterized by the presence of one normal X chromosome and the complete or partial loss of the second X chromosome. The early recognition of TS patients allows for adequate therapy for short stature and pubertal sex steroid substitution. We developed a cost-effective molecular diagnostic tool that can be used to identify 45,X TS patients from dried blood spots, for possible use in neonatal screening for TS. We used a three-step method for 45,X TS detection: i) DNA extraction from dried blood spot samples, ii) pre-PCR HpaII digestion (methylation-sensitive enzyme) and iii) GeneScan analysis of selected cases. DAX-1 gene amplification was used to recognize DNA integrity, and the androgen receptor gene (Xq11-12), which is both a highly polymorphic and methylated gene, was used to determine the number of X chromosome alleles. Using this three-step diagnostic procedure, we detected apparent TS in 1/304 (0.33%) samples; such individuals should be submitted to clinical examination and karyotype confirmation. The three-step 45,X TS neonatal screening protocol is a simple, reliable, fast (under 30 h) and cost-effective diagnostic tool, useful for the neonatal detection of TS.

Infant hearing loss: the necessity for early identification

There has been controversy in the health professions about the necessity for newborn infant hearing screening. It is well accepted that patient history or a birth that places the infant in the high-risk registry (HHR) can identify 50 of all infants born with permanent bilateral hearing loss. Two major factors which have been cited as reasons for not screening the well-baby nursery have been poor cost effectiveness and the lack of documentation as to the benefits derived from early identification and intervention. Recent technological developments and published data are presented which indicate that economical well-baby hearing screening can be done in any setting, and that the language acquisition of the infant is permanently affected if the intervention is not done in the first six months after birth

Tamiz neonatal en América Latina: problemas y propuestas derivadas de la práctica clínica / Neonatal screening in Latin America: problems and proposals derived from clinical practice

Las pruebas de tamiz neonatal sirven para detectar a recién nacidos portadores de alguna patología endocrina, infecciosa o errores del metabolismo, antes de que la enfermedad se manifieste y previene, de ser posible, alguna discapacidad física, mental o la muerte. Se considera conveniente establecer un programa nacional de tamiz neonatal e infantil en México y en Latinoamérica, para hipotiroidismo congénito y evaluar la posibilidad de incluir a la hiperplasia adrenal congénita la toxoplasmosis congénita y el neuroblastoma mediante estudios piloto, que consideren un estricto control de calidad, sistemático y automatizado. El costo/beneficio del tamiz neonatal es positivo a la sociedad y evita el daño cerebral permanente, y/o la muerte de los niños