Confirmatory Testing among Neonates with Positive Newborn Screening Results at MCU-FDTMF Hospital

Celeste Andrada  Asilo,

Confirmatory Testing among Neonates with Positive Newborn Screening Results at MCU-FDTMF Hospital

Abstract:

Introduction: Newborn screening (NBS) allows for early identification of certain genetic, metabolic or infectious diseases and timely interventions that can lead to significant reduction of morbidity, mortality, and associated disabilities in affected infants. Objective: To determine the rate of confirmatory testing among newborn screen-positive cases at MCU-FDTMF Hospital. Study Design: Cross sectional analytic study. Methods: The subjects were newborn patients delivered at MCU-FDTMF Hospital from January 2014 to December 2016, with positive newborn screening test result. The subjects were divided into two: with confirmatory testing and without confirmatory testing groups. A review of medical records of with confirmatory testing and without confirmatory testing groups was done at MCU-FDTMF Hospital laboratory section. The clinico-demographic profile of the patients as to sex, socio-economic status and parity were documented and compared among those with and without confirmatory tests. Results: Out of the 324 newborns who screened positive on NBS that were included in the study, only 224 (69.1%) underwent confirmatory testing. There was a significantly greater proportion of females underwent further confirmatory testing than males (79.7% and 66.8%, respectively). There was also a significant difference in the socio-economic status of newborn with positive NBS who underwent further confirmatory testing. With regard to the rate of confirmatory results for the different metabolic diseases the following were noted: CAH 92.9%; G6PD 66.9%; CH and MSUD both with 100%; while Cystic Fibrosis, Fatty Acid Disorders, and hemoglobinopathies had 0%. Conclusion: The distribution of newborns who underwent confirmatory testing after screening positive for NBS regardless of the type of disease must be further improved. Furthermore, the proportion of newborn who underwent further confirmatory testing increases with increasing socio-economic status.