CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Neonatal screening program key indexes in a neonatalintensive care unit (NICU) Gotta GL, Enacan R, Vieites A, Rodriguez ME,Ballerini MG,Russman M, Rodriguez V, Calcagno ML, , Chiesa A , Ropelato MG
Autor/es:
ENACAN R; BALLERINI MG; CALCAGNO ML,; VIEITES A; RUSSMAN M; CHIESA A; GOTTA GL; RODRIGUEZ ME; RODRIGUEZ V,; ROPELATO MG
Lugar:
CABA
Reunión:
Congreso; XI Congreso Latinoamericano de errores congénitos del metabolismo y pesquisa neonatal; 2019
Institución organizadora:
Sociedad latinoamericana de errores congenitos y pesquisa neonatal (SLEIMPN)
Resumen:
There is scarce information about Neonatal Screening Program Key Indexes applied to babies in a neonatal intensive care unit (NICU).OBJECTIVE: The purpose of this study was to compare retrospectively the recall and detection rates ((RR) and (DR)) observed in the NICU with those of general maternities from CABA.MATERIAL AND METHODS: Screening of Congenital Hypothyroidism (CH)(TSH), Hyperphenylalaninemia (HPA)(Phenylalanine) Cystic Fibrosis (CF)(IRT/IRT), Congenital Adrenal Hyperplasia (CAH)(17OHP), Galactosemia (Gal)(Total galactose) and Biotinidase Deficiency (BIO) with the cut-offs used in Neonatal Screening Program-CABA (PPN) was done in 27.842 newborn from 2 public maternities (96%)(G1) and in 1.238 from NICU (4%)(G2).RR and DR from 2009 to 2017 were calculated and compared (chi2 test) RESULTS: G1 showed a median age (MA) of sampling of 3 days, RR was 2.1% (0.15% inadequate samples and 1.95% due to other causes (medication, blood transfusions, fasting). Overall RR due to the latter was 2.7% ((CH:0.29; CF:1.18; HPA:0.03; CAH:0.49; GAL:0.47 and BIO:0.22). The global incidence of the screened disorders was: 1/752, with 25 CH(1/1.114) (MA of diagnosis confirmation and treatment (MADT): 14days (range 6-25)), 1 GAL MADT:6 days, 3CAH (1/9280) (MADT:4 (3-11days) ,1 BIO MADT:30 days, 1 HPA MADT:12 days and 6 CF (1/4.640) MADT:29 (20-60 days).G2 MA of sampling was 14 days, RR was significantly higher 20.6 % (inadequate samples 1,86 %, and other causes 18,8%) p< 0.01 vs. G1. Overall RR was 4.5 times higher (11.6%) compared to G1, being for CH: 1.05, CF:4.38 ; HPA:0.32; CAH :3.29; GAL:1.05; and BIO:1.53. RR% for CF and CAH were inadequately high. The incidence of an affected newborn was 1/137, significantly higher than in G1. Seven CH (1/176) MADT:32 days (range:13-52), 2 CF(1/619) MADT:31 days (30-33) and 1 CAH (1/1.238) MADT:3 days were identified .CONCLUSIONS: Neonatal screening performed in the NICU was belated differing from the screening performed routinely in maternities in a higher RR due to biological and preanalytical factors associated to underlying conditions.In spite of the higher recall, the higher incidence of the screened conditions (DR) is noteworthy although detection strategies for CAH and CF have to be revisited