Web System for Spatial Processing and Analysis: An Application in a Neonatal Screening Program in Southern Brazil

Background Spatial data analysis refers to the process of finding patterns, detecting anomalies, or testing hypotheses and theories by observing phenomena associated with a specific geographic area or location. The literature in the area presents different studies that seek to understand its phenomena through spatial analysis techniques and methods. However, these studies have several problems, such as the frequent use of only one type of analysis, area or punctual. Furthermore, the studies do not formally describe the process of treatment and organization applied to the data to replicate the spatial analyzes in other research areas. Thus, this work proposes a web system for generating, organizing, and processing data compatible with geographic information systems to construct spatial analysis of area and points. Methods The proposed method was developed with the JavaScript programming language and structured in four sequential steps: data acquisition, processing and organization, data validation, and spatial analysis. Data from three diseases (cystic fibrosis, congenital adrenal hyperplasia and hemoglobinopathies) from a neonatal screening program in southern Brazil were used to validate the proposed method and construct the spatial analyses. The choropleth mapping and kernel density estimation methods were used to build the analyses. Results The results obtained made it possible to georeference the data, validate it to its area of study, associate it with its micro and mesoregions, and cross it with public databases. In addition, the results enabled the construction of scientific maps of area and points to visualize the primary evidence from the spatial distribution of disease cases. Conclusions The developed method showed high replication potential for other study contexts. Also, it proved to be relevant in the context of spatial analysis, enabling speed in processing, data organization and, consequently, in the construction of significant results that can be used in public policies that directly impact people's quality of life and health challenges.

Neonatal Screening Program of Congenital Hypothyroidism: How Can We (Still) Improve?

Background: Congenital hypothyroidism (CH) has severe and irreversible neurological consequences for the child if treatment is not readily initiated, which justifies fast diagnosis. Screening of CH is a universal procedure well established in Portugal. It is based on measuring the pituitary thyroid stimulating hormone. The physiology of maturation of the pituitary-thyroid axis is incomplete at delivery in preterm and very-low birth weight babies (VLBW), which raises concerns with respect to the standard timing of CH diagnosis.The Portuguese Neonatal Screening Program recommends testing preterm/VLBW babies at three time points. The purpose of this study was to assess compliance of these guidelines.Methods: Questionnaires were sent to neonatal care units (NCU) and to general practitioner community health units in two time periods.Results: All NCU have written guidelines and the great majority follows the recommendations. Few NCU still postpone the first collection for newborns with protein intake restrictions, some retest new-borns in special circumstances, and a great number still use iodine disinfectants.Conclusions: This study shows that performing the metabolic screening is a well standardized procedure that can still be improved: not delaying the first collection, retesting sick and medicated babies, and avoiding iodine disinfectants.

Implementation of SCID Screening in Denmark

Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease (SCD) and other hemoglobinopathies. In 2005, the program coverage reached 80% of the total live births. Since then, it has oscillated between 80% and 84% globally with disparities from one state to another (>95% in São Paulo State). The Ministry of Health has also published several Guidelines for clinical follow-up and treatment for the diseases comprised by the neonatal screening program. The main challenge was, and still is, to organize the public health network (SUS), from diagnosis and basic care to reference centers in order to provide comprehensive care for patients diagnosed by neonatal screening, especially for SCD patients. Considerable gains have already been achieved, including the implementation of a network within SUS and the addition of scientific and technological progress to treatment protocols. The goals for the care of SCD patients are the intensification of information provided to health care professionals and patients, measures to prevent complications, and care and health promotion, considering these patients in a global and integrated way, to reduce mortality and enhance their quality of life.

Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Methods: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. Results: The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5–100) μIU/mL and 67.26 (10.7–100) μIU/mL, respectively. These patients’ mean heel prick time was 8.65 (0–30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4–51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29–65) days. The duration between heel prick time and venous TSH time was 11.10 (2–28, median: 11) days and was longer than planned (3–5 days). Conclusions: Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).