Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019

Abstract

Objective: To evaluate quality indicators of the Neonatal Screening Referral Service of the state of Mato Grosso (NSRS-MT) from 2005 to 2019. Methods: Cross-sectional, retrospective, exploratory, descriptive, and observational study from 2005 to 2019. The following parameters were analyzed: age of newborns at the first collection, time between sample collection and arrival at the laboratory, time between the arrival and release of results and time between requesting the second sample and arrival at the NSRS. The population coverage of the program and the incidence of each clinical situation screened were also analyzed. Results: NSRS-MT coverage was analyzed and recorded as 76%. The incidence was analyzed for congenital hypothyroidism (CH) 1:1867, phenylketonuria (PKU) 1:33,311, sickle cell disease (SCD) 1:2004, cystic fibrosis (CF) 1:12,663, congenital adrenal hyperplasia (CAH) 1:15,843, and biotinidase deficiency (DB) 1:25,349. The median age (days) at the first consultation was: 44 for HC, 22 for PKU, 60 for DF, 52 for FC, 79 for HAC and 79 for DB. The mean time between exam collection and delivery to the NSRS was 8.4 days; between the arrival and release of results, 9 days; and for the return of recalls, 59 days. Conclusions: Regarding the coverage of the target population and collection at the ideal age, the NSRS-MT presents values below the national average. However, regarding the mean age at the time of the first consultation, the state's performance is better than the national.

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

“…Again, in studies conducted in different provinces of Türkiye, PKU patients' mean age at diagnosis (mean ± SD) was 23.6 ± 19.5 days (minimum-maximum: 2-105 days) and 44 days [26,27]. Although there is no precise study in the literature directly concerning admission times for newborn screening for PKU, in a study conducted in Brazil, more than half of PKU patients were diagnosed within 8-30 days, approximately 30% were diagnosed within the first week, and approximately 5% were diagnosed after a period longer than 30 days [28]. Another study conducted in Jordan, including 294 PKU patients, found that 65.9% of the patients were diagnosed after a period longer than 30 days [29].…”

Adherence to chest physiotherapy, airway clearance techniques and physical exercise by children and adolescents with cystic fibrosis

“…14 In children with CF, telephone monitoring and home visits were demonstrated to improve treatment adherence, lung function, and quality of life. 28 Increasing early diagnosis is another important strategy to ensure early specialized attention and adherence to physiotherapy from the beginning of life, improving the prognosis of the disease. Primary Health Care plays a fundamental role in this process.…”

“…Immediately after diagnosis, CF requires early multidisciplinary management. 5 However, studies in different Brazilian states, including Espírito Santo, have shown that a relevant proportion of patients are diagnosed later 28,29 . So, strategies for health promotion and education are necessary.…”

Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives

“…Thus, an incidence of 1:28,316 was reported for Saudi Arabia [ 45 ]. Moreover, an incidence of 1:25,349 was reported in an article evaluating newborn screening in the state of Mato Grosso in Brazil from 2005 to 2019 [ 46 ]. Also based on newborn screening outcome data, an incidence of 1:80,000 births and between 1:31,000 and 1:40,000 were reported for profound and partial BD, respectively, in the USA [ 33 ].…”