Opportunity analysis of newborn screening programs

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program. We propose an outcome measurement of newborn screening programs based on the opportunity gains they offer. We show that, under plausible assumptions, the ranking of the available screening programs for a particular disease, according to this new outcome measurement, do not depend on the metric of opportunity. We also apply our model to the current debate about choosing between a selective or a universal newborn hearing screening program to detect congenital hearing impairment.opportunities, potential success, screening programs

Aetiologies after newborn hearing screening

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Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit.

ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%). (1) To compare 2817 neonatal intensive care unit (NICU) discharges before and after implementation of CCHD screening; and (2) to evaluate CCHD screening at <35 weeks gestation.Study designCollection of results of CCHD screening including pre- and postductal pulse oximetry oxygen saturation (SpO2) values.ResultDuring the pre-CCHD screen period, 1247 infants were discharged from the NICU and one case of CCHD was missed. After 1 March 2012, 1508 CCHD screens were performed among 1570 discharges and no CCHDs were missed. The pre- and postductal SpO2 values were 98.8 ± 1.4% and 99 ± 1.3%, respectively, in preterm and 98.9 ± 1.3% and 98.9 ± 1.4%, respectively, in term infants. Ten infants had false-positive screens (10/1508 = 0.66%).ConclusionPerforming universal screening in the NICU is feasible but is associated with a higher false-positive rate compared with asymptomatic newborn infants

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity. To develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number. A working group comprised of 15 SMA experts participated in a modified Delphi process, moderated by a neutral third-party expert, to develop treatment guidelines. The overarching recommendation is that all infants with two or three copies of SMN2 should receive immediate treatment (n = 13). For those infants in which immediate treatment is not recommended, guidelines were developed that outline the timing and appropriate screens and tests to be used to determine the timing of treatment initiation. The identification SMA affected infants via newborn screening presents an unprecedented opportunity for achievement of maximal therapeutic benefit through the administration of treatment pre-symptomatically. The recommendations provided here are intended to help formulate treatment guidelines for infants who test positive during the newborn screening process

OPPORTUNITY ANALYSIS OF NEWBORN SCREENING PROGRAMS

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program. We propose an outcome measurement of newborn screening programs based on the opportunity gains they offer after its implementation. We show that, under plausible assumptions, preferences among the available screening programs for a particular disease according to this new outcome measurement, do not depend on the metric of opportunity. We also apply our model to the current debate about choosing between a selective or a universal newborn hearing screening program to detect congenital hearing impairment.Opportunity analysis, potential success, screening programs

Newborn hearing screening in Hong Kong

OBJECTIVES. To review studies on newborn hearing screening in Hong Kong and the current evidence on the cost-effectiveness of universal newborn hearing screening programmes and to determine their value and the best model for such a programme in Hong Kong. DATA SOURCE. Medline literature search (1985-2004), local reports and abstracts available to the author. STUDY SELECTION . Literature and data on newborn hearing screening strategies, screening devices, cost-effectiveness study of universal newborn hearing screening programmes. DATA EXTRACTION. Relevant information and data were reviewed by the author. DATA SYNTHESIS. A universal newborn hearing screening programme with a high coverage rate is essential to enable early diagnosis and intervention before 6 months of age. This ensures good language and cognitive outcomes in hearing impaired children. A cost-effective universal newborn hearing screening programme should be hospital-based to achieve a high coverage rate, use modern screening devices with high sensitivity and specificity that enable early diagnosis, and be acceptable to parents. CONCLUSIONS. Increasing evidence supports the cost-effectiveness and long-term benefits of universal newborn hearing screening programmes. The medical community in Hong Kong should work towards the development and implementation of a well-coordinated, collaborative, multidisciplinary, cost-effective, and sustainable territory-wide universal newborn hearing screening programme coupled with interventions for the next generation of hearing impaired children.published_or_final_versio

Modelling costs and outcomes of newborn hearing screening: The economic part of a German health technology assessment project

The prevalence of newborn hearing disorders is 1-3 per 1000. Crucial for later outcome are correct diagnosis and effective treatment in the first year of life. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems. Objective of the study was to examine the scientific evidence of newborn hearing screening, thus to compare cost-effectiveness of different programmes, differentiated by type of strategy (risk screening, universal screening, no screening). Methods: In an interdisciplinary health technology assessment project all relevant studies on newborn hearing screening were identified and data on medical outcome, costs and cost-effectiveness extracted. A Markov model was designed to calculate cost-effectiveness ratios. Results: Economic data were extracted from 20 relevant publications. In the model total costs for screening of 100.000 newborns with a time horizon of ten years were calculated: 2.0 Mio . for universal screening (U), 1.0 Mio. for risk screening (R) and 0.6 Mio. for no screening (N). The costs per child detected: 13,395 (U) respectively 6,715 (R) and 4,125 (N). Conclusions: A remarkable small number of economic publications mainly of low methodo-logical quality was found. In our own model we found reasonable cost-effectiveness ratios also for universal screening. Considering the outcome advantages of higher numbers of cases detected a universal newborn hearing screening is recommended. --

Informed choice and public health screening for children: the case of blood spot screening

Objective: To examine parents' and health professionals' views on informed choice in newborn blood spot screening, and assess information and communication needs. Design and participants: A qualitative study involving semi-structured telephone interviews and focus groups with 47 parents of children who were either found to be affected or unaffected by the screened conditions, and 35 health professionals with differing roles in newborn blood spot screening programmes across the UK. Results and conclusions: Parents and health professionals recognize a tension between informed choice in newborn blood spot screening and public health screening for children. Some propose resolving this tension with more information and better communication, and some with rigorous dissent procedures. This paper argues that neither extensive parent information, nor a signed dissent model adequately address this tension. Instead, clear, brief and accurate parent information and effective communication between health professionals and parents, which take into account parents' information needs, are required, if informed choice and public health screening for children are to coexist successfully

Haemoglobinopathies and newborn haemoglobinopathy screening in Germany.

Germany has been an immigration country since the early 1950s. In December 2007, 6.7 million non-German citizens lived in the country. However, the total number of citizens with a migration background is 15–20 million, about 9 million of whom come from countries where sickle cell disease and thalassaemias are frequent. In a country with 82 million inhabitants health authorities are not worried by the presence of probably 1000–1500 sickle cell and 450 transfusion-dependent thalassaemia patients, and therefore no screening or preventive measures have been taken so far on a national scale. There are plans for a pilot project (1 year) to screen all newborns for sickle cell disease in obstetric hospitals in 4–5 cities with more than 20% migrants. Funding and lack of an infrastructure to provide counselling are major problems

Newborn screening using tandem mass spectrometry: A systematic review

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Study design: Systematic review of published research. Data sources: Studies were identified by searching 12 electronic bibliographic databases; conference proceedings and experts consulted. Results: Six studies were selected for inclusion in the review. The evidence of neonatal screening for PKU and MCAD deficiency using tandem MS was primarily from observational data of large-scale prospective newborn screening programmes and systematic screening studies from Australia, Germany and the USA. Tandem MS based newborn screening of dried blood spots for PKU and/or MCAD deficiency was shown to be highly sensitive (>93.220%) and highly specific (>99.971%). The false positive rate for PKU screening was less than 0.046% and for MCAD deficiency the false positive rate was less than 0.023%. The positive predictive values ranged from 20 to 32% and 19 to 100%, respectively. Conclusions: This review suggests that neonatal screening of dried blood spots using a single analytical technique (tandem MS) is highly sensitive and specific for detecting cases of PKU and MCAD deficiency, and provides a basis for modelling of the clinical benefits and potential costeffectiveness