Preliminary Results of Neonatal Screening of 19 Genetic and Metabolic Disorders in Qalyubia Governorate

Abstract

Background: Tandem mass spectrometry (MS/MS) expanded neonatal screening for inborn errors of metabolisms (IEMs) and it is an  effective method for early diagnosis and presymptomatic therapy to avoid serious long-term consequences and mortality.
Objective: To detect the prevalence of the preventable 19 IEM screened among neonates in NICUs of our community and identify types  of IEM most commonly found in Qalyubia Governorate. Screening obstacles were also addressed to be resolved appropriately with provision of purposeful family counseling.
Methods: This cross-sectional study was performed on neonates admitted to NICU of Benha Children Hospital in Qalyubia Governorate  for early detection of 19 neonatal genetic diseases and early treatment of positive ones for duration of one year from June 2022 to June  2023. This study included 700 neonates. All neonates were subjected to detailed history taking, detailed examination and assessment of  19 genetic and metabolic disorders.
Results: Regarding the screening test for 19 genetic and metabolic disorders of the studied group, 19 (2.71%) patients were true positive,  51 (7.29%) patients were false positive, and 630 (90%) patients were negative. Congenital adrenal hyperplasia was confirmed in  1 (0.14%) patient, G6PD enzyme deficiency was confirmed in 16 (2.29%), and urea cycle defect was confirmed in 1 (0.14%) patient and  elevated TSH and confirmatory free T4 recommended was found in 1 (0.14%) patient. Regarding the outcome of the positive cases, 18  (94.74%) patients survived, and 1 (5.26%) patient did not survive (urea cycle defect). The diagnostic accuracy of the screening test was  92.7%, with 100% sensitivity, 92.5% specificity, 27.1% PPV and 100% NPV. This test was proven to be an effective and good negative test. Conclusion: This test was proven to be an effective and good negative test. Even before they showed symptoms, infants who were tested  positive for illnesses were treated promptly. Thus, it might lower health care expenses and prevent or reverse serious disability.