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

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.

Keywords:
National health programs; Program evaluation; Public health; Metabolism, inborn errors

	Age (days) until the collection of samples
	0 to 7		8 to 30		>30
2005	29.2		63.6		7.2
2006	31.6		62.9		5.5
2007	35.9		59.5		4.6
2008	36.8		58.9		4.3
2009	39.6		56.1		4.3
2010	37.7		57.6		4.8
	0 to 2	3 to 5	6 to 8	9 to 14	15 to 30	>30
2011	0.8	26.0	28.7	25.2	14.6	4.7
2012	0.7	24.7	28.9	26.2	14.6	4.9
2013	0.6	29.3	27.5	24.2	14.0	4.4
2014	0.7	30.1	27.8	24.4	13.4	3.6
2015	0.9	29.8	28.4	24.8	12.7	3.4
2016	0.9	29.4	29.9	24.2	12.4	3.2
2017	0.9	35.5	28.9	21.4	10.4	2.9
2018	0.9	29.2	29.7	23.0	11.7	5.5
2019	0.9	28.9	32.2	22.7	11.2	4.1

Years	Days between sample collection and arrival at the NSRS-MT	Days between sample arrival at NSRS-MT and result release	Time between 2nd sample request and arrival at NSRS-MT (days)
2005	12.5	14.8	72
2006	21	9	30
2007	10.3	5.6	16.2
2008	10	5	24
2009	10.8	7.6	37
2010	8	11	78
2011	8.5	8.5	104
2012	7	9	97
2013	5.2	8.2	86
2014	5.2	8.6	73.5
2015	5.1	9.1	58.1
2016	5.1	10.8	65.1
2017	5.5	25.8	64.8
2018	5.8	9.4	36.7
2019	6.6	19.1	35.9
Mean ± SD (median)	8.4 ± 4.1 (7)	10.8 ± 5.2 (9)	58.5 ± 26.4 (64.8)

Screened disease	Age at 1^st appointment	Age at 1^st appointment, Brazil^// // Data from 2016 to 2020.	Number of diagnosed cases	Incidence
Congenital hypothyroidism^* * Data from 2005 to 2019;	44	35	321	1:1867
Phenylketonuria^* * Data from 2005 to 2019;	22	30	18	1:33,307
Sickle cell diseases and other hemoglobinopathies^† † Data from 2009 to 2019;	60	54	216	1:2775
Cystic fibrosis^‡ ‡ Data from 2013 to 2019;	52	47	22	1:27,251
Congenital adrenal hyperplasia^§ § Data from 2014 to 2019;	61	29	16	1:37,470
Biotinidase deficiency^§ § Data from 2014 to 2019;	79.8	47	10	1:59,953

Sociedade de Pediatria de São Paulo R. Maria Figueiredo, 595 - 10o andar, 04002-003 São Paulo - SP - Brasil, Tel./Fax: (11 55) 3284-0308; 3289-9809; 3284-0051 - São Paulo - SP - Brazil
E-mail: rpp@spsp.org.br

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[1] *Corresponding author. E-mail: rroselicosta@gmail.com, roselibiologia@yahoo.com.br (R. D. Costa)