The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Maciel, Léa Maria Zanini; Magalhães, Patrícia Künzle Ribeiro; Ciampo, Ieda Regina Lopes Del; Sousa, Maria Luísa Barato de; Fernandes, Maria Inez Machado; Sawamura, Regina; Bittar, Roberta Rodrigues; Molfetta, Greice Andreotti de; Silva Júnior, Wilson Araújo da

doi:10.1590/0102-311X00049719

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ARTICLE • Cad. Saúde Pública 36 (10) • 2020 • https://doi.org/10.1590/0102-311X00049719 copy

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Uma avaliação dos primeiros cinco anos do programa de triagem neonatal da fibrose cística no Estado de São Paulo, Brasil

Una evaluación de los primeros cinco años del programa de cribado neonatal de fibrosis cística en el Estado de São Paulo, Brasil

Authorship SCIMAGO INSTITUTIONS RANKINGS

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

Keywords:
Cystic Fibrosis; Neonatal Screening; Trypsinogen

Newborn	Gestatonal age (weeks)	IRT1 (ng/mL)	IRT2 (ng/mL)	Sweat chlorine (mEq/L)	Onset of symptoms (day)	Clinical manifestations			Age at 1^st evaluation (day)
Newborn	Gestatonal age (weeks)	IRT1 (ng/mL)	IRT2 (ng/mL)	Sweat chlorine (mEq/L)	Onset of symptoms (day)	Gastro-intestinal	Respiratory	Metabolic
1	39	145.0	73.9	94.8	15		Yes		30
2	37	83.4	89.2	83.0	Birth	Yes			53
3	38	205.0	90.5	53.5	Birth	Yes			93
4	36	140.0	93.7	112.6	Birth	Yes	Yes	Yes	48
5	40	71.6	101.0	59.5	Birth	Yes	Yes		35
6	38	105.0	116.0	69.7	Birth		Yes	Yes	41
7	39	203.0	152.0	138.0	Birth	Yes		Yes	35
8	38	156.0	153.0	98.7	Birth	Yes			35
9	39	194.0	165.0	70.9	Birth	MI			1
10	33	154.0	172.0	126.3	Birth	MI			1
11	37	251.0	191.0	197.0	Birth	MI			1
12	38	303.0	226.0	131.1	15	Yes	Yes		53
13	38	485.0	232.0	88.8	Birth		Yes		31
14	40	139.0	272.0	75.0	Birth	Yes			43
15	35	317.0	295.0	170.0	Birth	Yes		Yes	49
16	35	187.0	NC	110.0	Birth		Yes		97
17	39	83.4	LC	55.9	40	Yes	Yes	Yes	82
18	38	166.0	NC	65.1	Birth	Yes	Yes		51
19	40	119.0	NC	53.7	Birth			Yes	90
20	38	204.0	124.0	115.2	Birth	Yes			34
21	38	143.0	120.0	52.1	30			Yes	34
22 *	39	298.0	189.0	59.7	23	Yes			25
23 *	26	77.0	74.2	ND	Birth	MI			33
24 **	40	39.0	-	88.3	60		Yes	Yes	118
25 **	39	48.5	-	126.5	60		Yes	Yes	264
26 **	37	92.9	54.8	63	60		Yes		475

Newborn	Sanger sequencing	MLPA
1	Positive for the F508del mutation in homozygosis in exon 11 in the CFTR gene	ND
2	Positive for the F508del and Leu997Phe mutations in heterozygosis in exons 11 and 19, respectively in the CFTR gene	ND
3	Positive for the Met470Val mutation in homozygosis and F508del in heterozygosis, both in exon 11 in the CFTR gene	No deletions/No duplications
4	Positive for the Gly85Glu and F508del mutations in heterozygosis in exons 3 and 11, respectively, in the CFTR gene	F508del in heterozygosis
5	Positive for the F508del mutation in homozygosis in exon 11 in the CFTR gene	F508del in homozygosis
6	Positive for the Pro205Ser mutation in exon 6 of the CFTR gene and for the pathogenic allele 5T/TG12 In the IVS8 region in the CFTR gene	No deletions/No duplications
7	Positive for the Met470Val mutation in homozygosis in exon 11 and for Arg1162Stop in heterozygosis in exon 22 in the CFTR gene	No deletions/No duplications
8	Positive for the F508del mutation in homozygosis in exon 11 in the CFTR gene	F508del in homozygosis
9	Positive for the F508del mutation in homozygosis in exon 11 in the CFTR gene	ND
10	ND	ND
11	ND	ND
12	Positive for the F508del mutation in heterozygosis in exon 11 in the CFTR gene	F508del in heterozygosis
13	Positive for the Gly85Glu and F508del mutations in heterozygosis in exons 3 and 11, respectively, in the CFTR gene	F508del in heterozygosis
14	Positive for the Met470Val mutation in homozygosis in exon 11 in the CFTR gene	No deletions/No duplications
15	Positive for the F508del mutation in homozygosis in exon 11 in the CFTR gene	ND
16	Negative for mutations in the coding region of the CFTR gene	Exon 2 deletion in heterozygosis
17	Positive for the Ala349Pro mutations in exon 8 of the CFTR gene and for the pathogenic allele 5T/TG12 In the IVS8 region in the CFTR gene	No deletions/No duplications
18	Positive for the mutations I148N in exon 4 and.Ile507del in exon 11, both in heterozygosis, in the CFTR gene	ND
19	Positive for the Leu206Trp and F508del mutations in heterozygosis in exons 6 and 11, respectively, in the CFTR gene	F508del in heterozygosis
20	ND	ND
21	Positive for mutations Arg117His e Gly542Stop in heterozygosis in exons 4 and 12, respectively, in the CFTR gene	ND
22 *	ND	ND
23 *	ND	ND
24 **	ND	ND
25 **	ND	ND
26 **	ND	ND

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[1] Correspondence
L. M. Z. Maciel Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Av. Bandeirantes 3900, Ribeirão Preto, SP 14049-900, Brasil. lmzmacie@fmrp.usp.br