During the neonatal period, the pinprick puncture of the newborn heel is the main method used to collect blood. It is also used to collect blood in newborns with certain genetic conditions, such as cystic fibrosis, spinal muscular atrophy, and sickle cell disease.
Cost of NBS for SMA
Including spinal muscular atrophy (SMA) in newborn screening (NBS) programs are beneficial for health outcomes. In addition to reducing health care costs, NBS for SMA increases the chance of normal development of motor milestones. However, it also has significant costs associated with screening and treatment. In order to assess the overall cost-effectiveness of including SMA in NBS programs, a study was conducted in The Netherlands.
The study used data on health costs, life expectancy, and prescription costs. The results showed that NBS for SMA was cost-effective when willingness-to-pay thresholds were met. Specifically, the cost-effectiveness ratio (ICER) for NBS for SMA was -EUR37 564 per quality-adjusted life-year (QALY).
The study was conducted in The Netherlands, a country that has universal health insurance coverage. Several scenarios were tested to assess the validity and robustness of the model. These included assessing incidence, incidence percentage, treatment percentage, treatment cost, and treatment cost percent.
Using a one-way decision tree and Markov state-transition model, the study estimated the lifetime health effects of SMA treatment. The model was constructed using inputs based on expert opinion and local data.
The model was stress-tested to generate results with extreme parameter values. The results were robust in both scenario analyses and sensitivity analyses. The model is applicable to updated screening inputs.
The model inputs were based on literature and expert opinion. Total healthcare costs included screening and treatment of presymptomatic infants with SMA. It also included the diagnostics and medications used during treatment.
The study included 569 patients. Among the patients, two were excluded from treatment because of the lack of reimbursement for cost-intensive medication. One family decided against treatment because of limited data on treatment success in early-detected SMA. The other family considered the natural history of the disease and the severity of the disease. Despite the fact that the natural history of the disease was considered a relevant parameter to support the urgency of therapy, the family was not willing to participate.
The study included five years of data. In April 2020, the data collection ended. The cost-effectiveness ratio of NBS for SMA was calculated, as well as the cost savings associated with the implementation of the program in The Netherlands.
Cost of NBS for SCD
Regardless of the birth setting or the first office visit, newborn screening for sickle cell disease (SCD) should be considered. It is a cost-effective intervention that reduces morbidity and mortality. It is recommended that newborns be screened within the first few weeks of life.
The SickKids Caribbean Initiative (SKCI) program uses HPLC testing of heel prick samples. It is part of a multi-year partnership between the SickKids Center for Global Child Health in Toronto and the Korle Bu Teaching Hospital in Accra.
SCD NBS programs in sub-Saharan countries are relatively undeveloped. In these settings, transportation and sample availability are major challenges. This is why advocacy groups and public health officials are key in convincing policymakers and health care providers that SCD NBS is a viable intervention.
There are five countries that have implemented SCD NBS. The programs vary in their approach and model. However, they all share a number of common features. They are:
a) Most African countries use Isoelectric focusing as the first-line screening method. The test is conducted in the hospital laboratory. The results are interpreted by an experienced laboratory technician. A sample that shows an abnormal result is re-punched and retested by HPLC.
b) Most African countries also use mobile phone communication. This method allows communication with the parent. However, the results feedback can be challenged by mothers who lack access to mobile phones.
c) In some countries, umbilical cord samples are used for screening. These samples are usually transported to a central laboratory. However, these types of tests require experienced operating personnel and expensive equipment.
d) In some countries, a b-globin sequencing approach is used for SCD screening. This is a simple and affordable method that can be integrated into existing NBS programs.
e) In sub-Saharan British territories, SCD NBS is not uniformly offered. However, champions in Antigua and Guyana are pressing to develop programs that are sustainable.
In the region, there is a need for a national screening program. It is important to integrate NBS services with the existing government RCH services. This will increase the number of newborns being screened and increase the number of pregnant women receiving health education on SCD.
Cost of NBS for Cystic Fibrosis
Earlier diagnosis of CF is essential to start treatment before irreversible organ damage occurs. This results in a more favorable outcome for children with CF. Screening for CF will become an essential part of the CF management pathway.
To ensure the screening process is effective and safe, NBS screening programs must comply with national standards. These standards describe the processes that are used in NBS screening, including the collection of blood samples, pre-analytical processes, post-analytical processes, and reporting results.
The Netherlands introduced a novel four-step screening strategy for newborn screening for cystic fibrosis in 2011. This strategy included a two-tier assay for immuno-reactive trypsinogen and pancreatitis-associated protein (PAP), DNA analysis, and extended gene analysis (EGA). The study aimed to evaluate the performance of this strategy in the routine NBS program. The performance was measured in terms of sensitivity, specificity, positive predictive value (PPV), median age at diagnosis, and CF/CFSPID ratio.
A database containing data from eight19,879 newborns screened in the Netherlands during the study period was used. These included 117 infants with a positive screening results who were confirmed to have CF. In addition, 41 infants were considered healthy carriers.
The study used data from five screening laboratories. DNA analyses were performed in two laboratories. The results showed 35 mutations in the CF gene. These were classified as A and B variants and were considered screen-positive. Afterward, the samples were sent to a molecular genetics laboratory for further analysis.
The study also included data from the Dutch Paediatric Surveillance Unit (DPSU) to evaluate false negative screening results. The unit also reported the cases that were missed by the NBS. The DPSU evaluated these cases and reported them to RIVM, the Dutch national CF center. The RIVM registered positive screening results on its web-based registry.
The study concluded that the four-step screening strategy was feasible within a routine Dutch NBS program. The four-step strategy showed acceptable sensitivity and specificity. It also had favorable performance in the CF/CFSPID ratio, PPV, and the median age at diagnosis. The four-step strategy was compared with ECFS Best Practice Standards of Care.
Perceptions of heel prick screening
During the course of their stay in the neonatal intensive care unit, newborns often undergo heel pricks for glucose monitoring. Pain during the heel prick may be due to the squeeze of the heel or the handling of the foot. Heel pricks are carried out by experienced neonatologists. In some countries, screening for cystic fibrosis is included in the routine heel-prick program. However, the disadvantages associated with newborn screening for CF have discouraged the introduction of the screening program in other areas. Earlier diagnosis of rare genetic disorders can help reduce the cost of raising children. In addition, the screening program can identify serious medical conditions that may need early treatment.
To determine the effectiveness of heel prick sampling, a randomized controlled trial was conducted over two months in a level III NICU. Forty newborns who were hemodynamically stable on partial oral feeds were randomized to receive either the heel prick procedure with a 26-gauge needle or the heel prick procedure with a lancet. Both methods of heel prick sampling resulted in adequate sampling. The number of pricks required to obtain an adequate sample was also recorded.
The primary outcome measure was the pain score for heel pricks performed by both methods. A Mann-Whitney U test was used to compare the pain score during the heel prick between the two methods. The change in PIPP scores over time was also compared using the Friedman test. The results indicated that pain scores after heel pricks by the two methods were not significantly different. However, the difference between the 2 points in PIPP scores could be clinically significant. The PIPP score was determined at five to five-and-a-half minutes after the heel prick procedure. The pain score was recorded by the principal investigator, who also recorded the pulse oximeter readings.
The study also found that the use of the lancet resulted in a shorter duration of audible cry. Expression of breast milk as part of the unit pain management protocol was also administered two minutes before the heel prick. The study revealed that heel pricks using the lancet were less painful than heel pricks using a 26-gauge needle. The results of this study indicate that the use of the lancet could lead to a significant reduction in pain for newborns during the hospital stay.
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