تقييم برنامج الغربلة لحديثي الولادة في محافظة كربلاء المقدسة خلال خمس سنوات 2018

Assessment of Neonatal Screening Program within Five years in Holy Karbala Governorate /2018

Background: Newborn screening is a comprehensive system that includes laboratory testing, diagnosis, follow-up, treatment, education, and evaluation. To be effective and successful, the newborn screening system requires continuous quality improvement focused on information sharing, technical assistance and standardized data.  The screening program targeting infants in the first month of age for congenital hypothyroidism, phenylketonuria and classical galactosemia. Metabolic disorders are not easily detected without screening because many of the symptoms are nonspecific and look like other more common disorders. Some of the disorders do not show any symptoms at all until damage has been occurred. In some of these cases damage irreversible. Screening means that metabolic disorders can be diagnosed before a baby gets sick.

Objectives: to assess the neonatal screening program in Karbala governorate between 2013-2018 and to estimate the incidence of congenital hypothyroidism, phenylketonuria and galactosemia in Karbala and identify the obstacles or limitations in the program.

Methods: a biometeric study conducted among all newborn below than 1month underwent screening from the beginning of program at the first of April 2013 to 31 of March 2018 (5 years), study involve all 4 health sectors which belongs to Karbala Health Directorate. By reviewing of their records and screening results and further analyzing the data. Coverage rate, positive screening test percentage, incidence, positive predictive value and specific program indicators were measured.

Results: The total coverage rate was 71.7% and slightly improve between 2013  toward 2018. The incidence of congenital hypothyroidism was 1:1538 and male to female ratio was 1.1:1, the incidence of phenylketonuria was1: 7692 and incidence

 of galactosemia was 1:934. Defaulters was identifying in different stage of program. The mean age at first sampling for those with positive screening test was11.4±7.8 days and median was 10 days, the mean age at second sampling was26.5 ±9.8 days and median was 23 days. The percentage of neonate that done the first sampling at age ten days and younger was generally low and under the international standard, the percentage of screening card samples to be received by the laboratory within 6 days of being taken was generally the same and above the international standard, the percentage of result to be available within four working days from date of received to lab and the percentage of neonates who diagnosed and received appropriate treatment by 28 days of age was increase between 2013 to 2018 but generally below the international standard. Regular follow up was 53.6% for congenital hypothyroidism, 91.6% for phenylketonuria and 25% for galactosemia.

Conclusions: generally, the program important and effective and need to be expanded to cover all Iraq. However, the coverage rate in Karbala Health Directorate was suboptimal compared to the international standard as well as the overall results of screening test, age of screening sampling, lab performance and follow up were below the international standard.