Background:, Expanded newborn screening for IEMs by tandem mass spectrometry
(MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to
prevent severe permanent sequelae and death.
Aim: to detect the prevalence of the preventable 19 IEM screened among neonates in
NICUs of our community and identify types of IEM mostly commonly found in
Qalyubia Governorate. Screening obstacles are 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:june 2023. This study included 700 neonates.All neonates 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. Infants
who screened positive for diseases were managed early even before they were
symptomatic. Therefore, it could prevent or revert severe disabilities and reduce
health care costs |
