CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Total parenteral nutrition effect on MSUD disease new born screening recall rate
Autor/es:
MARıA LAURA SUEIRO; CLAUDIO ARIEL CASTILLO; ANA CHIESA; CLAUDIO ARANDA; FEDERICO JOS ´E TORRES; ADRIANA ONETO,; GLADYS GUARRERA, ; MERCEDES HUNT; HERNA´N EIROA,; GUSTAVO MACCALLINI
Lugar:
Rio de Janeiro
Reunión:
Congreso; 13th International Congress of Inborn Errors of Metabolism .; 2017
Institución organizadora:
SOCIEDAD LATINOAMERICANA DE ERRORES CONGENITOS Y PESQUISA NEONATAL (SLEIMPN)
Resumen:
Introduction: Maple syrup urine disease (MSUD) is a congenitalmetabolic disorder affecting branched-chain aminoacids leucine (Leu), isoleucine, and valine (Val) metabolism.Introduction of tandem mass spectrometry into newbornscreening (NBS) programs allowed testing for these diseaseswith relative ease by determining levels of Leu and Val ondried blood spot (DBS). Several studies suggest that aminoacid-rich solutions could lead to an increase of false positiverates while screening newborns under total parenteral nutrition(TPN). Objective: Assess the effect of TPN on MSUDnewborn screening recall rate in our population. Materialsand Methods: A total of 48 410 MSUD newborn screeningresults, obtained between April 2015 and April 2017, wereretrospectively analyzed, of which 207 were false-positiveresults. Of these, as recorded on their sample card, 111 wereunder TPN, 131 were preterm infants (< 37 weeks of gestation)and 138 had low birth weight (LBW) (< 2500 g). 203 ofrecalled patients were hospitalized and only 4 on their homes.Results with a Leu and/or Val value above their cutoff in afirst analysis and with both tests under their cutoff values in asubsequent analysis (new sample) were considered as falsepositives results. Statistical analysis was performed using theIBM SPSS Statistics 23 software. Chi-Squared test was usedfor hypothesis testing. Results: The proportion of recitedpatients under TPN (53.6%) showed no difference with thosenot under TPN (46.4%) (P ¼ .297), while we observed ahigher proportion of preterm (63.3%) versus term infants(36.7%) (P < .001) and of LBW patients (66.7%) versus normalbirth weight patients (33.3%) (P < .001). Among newbornswith TPN reported we observed a higher proportion ofpreterm (73.9%) over term infants (26.1%) (p < 0.001) and oflow birth weight (80.2%) over normal birth weight newborns(19.8%) (p < 0.001). Among those with no reported TPN,proportion of preterm (51%) and term (49%) infants werecomparable (P ¼ .838), as was the proportion of normal birthweight (49%) and LBW (51%) infants (P ¼ .838). Discussion:The fact that the majority of patients are hospitalized facilitatesthe taking of a second sample. According to our study,the effect of total parenteral nutrition seems significative onlyfor the group of preterm and low birth weight infants.Suspension of parenteral feeding prior to sample recollectioncould reduce the false-positive rate in these particularpopulations.