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.

An economic evaluation of universal infant vaccination strategies against hepatitis B in Thailand: an analytic decision approach to cost-effectiveness.

To evaluate the cost-effectiveness of four infant vaccination strategies aimed at protecting the Thai population against hepatitis B virus (HBV) infection, vaccination and giving hepatitis B immunoglobulin (HBIg) to high-risk infants were compared with universal vaccination of infants and no vaccination. An analytic decision model was used to estimate the clinical and economic consequences of HBV for a hypothetical cohort of newborns for each of the immunization strategies. The model focused on the numbers and the costs of cases prevented. The decision model examined four different HBV management strategies: 1. screening for HBsAg, and vaccination; 2. screening for HBsAg, then HBeAg, and vaccination; 3. universal vaccination of all neonates; and 4. no vaccination. The cost-effectiveness per case prevented for Strategy 1 was 292.79 baht; for Strategy 2, 264.34 baht; for Strategy 3, 151.05 baht; and for Strategy 4, 0 baht. The incremental cost comparing Strategy 3 to Strategy 4 was 6,521 baht; comparing Strategy 2 to Strategy 3, 20,000 baht; and comparing Strategy 1 to Strategy 2, 95,000 baht. There is no socially acceptable threshold value for cost per case prevented to guide decisions on funding health care interventions. Strategy 3 should certainly be continued. Nevertheless, based on these results, Strategy 2 may be considered, despite the incremental cost being about 2 times that of Strategy 3, as it might represent a worthwhile investment of public funds.

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.

Bioethical considerations in neonatal screening: Japanese experiences.

Since 1979, at least 13,000 affected babies have been identified with one of the tested diseases. The outcome for patients is generally favorable if adequate treatment is given. Recently, ethical issues have arisen concerning whether or not written informed consent should be required, under what conditions the residual blood spot may be used for research purposes other than that originally designed, and whether or not the test is cost-effective. Mandatory screening seems acceptable under certain conditions, but parental education and opportunity for refusal should be part of the system. Refusal should be documented only after an attempt has been made to persuade parents to consent. Informed consent is necessary if there is uncertainty about the test's benefit to the child. Parents should be informed of the potential research value of the samples and assured that research results will not be linked to any particular/individual newborn. If identified or coded blood spots are used for research, IRB review and approval by IRB must occur. The net health care benefit from screening for six disorders in Japan was 0.25 billion yen ($2.2 million) per 100,000 screened newborns compared to $3.2 million for PKU and CH in the US for 100,000 screened newborns.

Neonatal screening and monitoring system in Taiwan.

Neonatal screening in Taiwan started as a pilot program in 1981. The coverage rate increased to 90% in 1990, and is currently more than 99%. Five diseases are covered in the screening program including congenital hypothyroidism, phenylketonuria, homocystinuria, galactosemia, and glucose-6-phosphate dehydrogenase deficiency. A monitoring system was established at the same time to ensure correct diagnosis and treatment for positive cases. Neonatal screening is not compulsory by law in Taiwan, but the government is very concerned about it. New tests for neonatal screening have recently been included as pilot programs. Parents of the newborns have to pay for these tests, for which informed consent has to be given. These additional tests include screening for congenital adrenal hyperplasia and tandem mass screening. The results of these pilot programs will be offered to the government for policy decision-making in the future.

Evaluating outcomes of newborn screening programs.

Newborn screening is a medical intervention. For every program, there should be evidence of its effect and effectiveness. The four questions to be addressed, very broadly, are: What is the effectiveness for case-finding (sensitivity, specificity, and positive predictive value)? What are the benefits of early detection versus clinical detection? What harm results from the program? Are the costs reasonably balanced in relation to benefits? Ideally, there would be randomized controlled trials (RCTs) of screening for each disorder. In practice, power calculations reveal that for very rare disorders this is not feasible. The numbers of screened and unscreened babies required would be huge, and trials would last for decades. There have only been RCTs of newborn screening for cystic fibrosis (birth prevalence 25-40 per 100,000 in Caucasians). No such trials were ever attempted for hypothyroidism, with a similar birth prevalence, and it may not now be ethical to mount one. Instead, lower orders of evidence must be used. Double-blind randomized controlled trials should be planned for not-so-rare disorders where possible. Where it is not feasible, careful planning and collection of data, plus the use of both historical controls and contemporaneous controls from other regions may have to suffice. To introduce programs with no plans for full evaluation is not best practice. Evaluation of outcomes of all kinds, not simply of case-finding, must be mandatory. Data for case-finding should be collected actively, with systematic searching for missed cases. Data about benefits need to be collected in well-planned long-term studies, although short-term benefits are also valuable. Good studies of harm, mainly from false positive results, are urgently needed. The problem of costs and benefits is difficult, and a "reasonable balance" rather than positive cost/benefit ratio seems desirable.

Newborn screening--is it really that simple?

The incorporation of tandem mass spectrometry (MSMS) into an existing newborn screening program is an evolving process. Limited worldwide experience has ensured that all stages of reliability testing need to be followed. These include a literature review to establish methodology and analytes/disorders for testing and a pilot screening project including assaying archival samples from subjects with proven target disorders. Algorithms used for analyte concentrations and the relationships of various analytes to one another for resample criteria need to be continually reassessed to maximise screening specificity, sensitivity and positive predictive value. Since 1st of April 1998, the NSW Newborn Screening Program has screened 320, 848 babies using electrospray MSMS for selected amino acids and acyl camitines. Screening for amino acids has led to requests for 415 repeat samples with 94 babies referred for further testing. Of these 73 had a disorder of amino acid metabolism, including 43 with persistent hyperphenylalaninemia (36 of whom had PKU, 2 had a pterin pathway defect, 5 HPAA). Screening for acyl carnitines has led to requests for 245 repeat samples with 63 babies referred for further investigation. Of these 44 had a diagnosed disorder, including 15 with medium chain acyl CoA dehydrogenase deficiency. Five babies with confirmed disorders detectable with MS/MS had negative test results. The cost of screening using MSMS was only $A0.50 more than the method for screening for PKU and homocystinuria alone (ie the bacterial inhibition assays) and has allowed detection of an additional 74 babies at least 48 of whom have a diagnosis for which early treatment seems clearly beneficial. MSMS has shown a sensitivity of 95.9% and specificity of 99.8% in our laboratory with a positive predictive value of 18%.

Cost-benefit analysis of newborn screening for galactosemia in the Philippines.

To determine the incidence of galactosemia (GAL) in the Philippines and to determine whether newborn screening for GAL is cost-beneficial from a societal perspective, cost-benefit analysis was performed. Newborn screening for GAL was done after the 24th hour of life using the Beutler test. Patients screened positive were recalled for confirmatory testing. Using incidence rates obtained from the different participating hospitals of the Philippine Newborn Screening Program (PNSP), the costs for the detection and treatment of GAL were compared to the expected benefits by preventing mental retardation, cataracts and other physical disabilities caused by the disorder that would lead to a loss of productivity for the individual. Sensitivity analyses for incidence and discount rates were also included. Of the 157,186 newborns screened by the PNSP since its inception in 1996, 8 screened positive results. Confirmatory testing of these patients showed that 2 had galactosemia. The incidence of galactosemia in this population therefore, is 1 in 106,006 (95% CI= 1:44,218 - 1:266,796). Projecting the figures to the actual birth rate (1.5M newborns/year), the total costs of the screening program amounted to $1.1M, while the total benefits amounted only to $0.2M, yielding net cost of $0.9M. A cost-benefit analysis of the screening program for galactosemia using the incidence 1 in 106,006 demonstrated that the costs of the program outweigh the benefits. The true incidence of galactosemia in the Philippine population may yield an incidence rate that will result in greater net benefits for the program.

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

Neonatal hip instability in Saudi Arabia: Results and cost effectiveness

The benefits of screening hips at birth for congenital dislocation have been repeatedly confirmed but doubts have been raised about the need for splinting all positive cases. Experience from an ongoing screening program, now in operation for over 11 years, is presented particularly with reference to cost benefit of screening and early surgical intervention. Of 30,651 live born babies screened for congenital dislocation of the hip [CDH] employing Barlow and Ortolani maneuvers, 132 were found to be positive, giving an incidence of two to six per 1000 live births, averaging 4.3/1000 for the period. The implications of epidemiologic and clinical observations and of management have been discussed. The cost of screening and of surgical management of cases that would not have stabilized without splinting has been resolved, even assuming that three of four positive cases might have stabilized without intervention. Cost effectiveness of a screening program for CDH was observed from this 11 year study, fully justifying a sustained program apart from the human misery an overlooked diagnosis may cause