In Jordan and due to improvements in nutrition and control
of communicable diseases, genetic disorders have become more of a concern for
public as well as health care providers. Jordan has a limited newborn
screening that targets PKU and CH that started in 2004 by Ministry of Health. Considering
the still high rate of consanguineous marriages in Jordan there might be an
increase in the autosomal recessive conditions including those of inborn error
of metabolism. Therefore, there is a need to introduce newborn-screening
services to the Jordanian community to aim at early diagnosis for such
disorders and provide the appropriate follow-up, management and treatment.
In 2009, the
Metabolomics Division (PHBC) started the National Newborn Screening Project
by integrating Quattro micro™ LC-MS/MS instrument in routine testing analysis. The objectives were to verify the real
prevalence for inborn errors of metabolism disorders in Jordanian population
and to monitor the therapy efficacy for those treatable inherited metabolic
disorders (organic acidurias, amino acidopathies
and fatty acid oxidation).
The purpose of Newborn Screening
Program is to screen for congenital and heritable disorders. These disorders
may cause severe mental retardation, illness, or death if not treated in the
early stages. If treated, infants may live relatively normal resulting in
savings in medical costs over time. However, if untreated, disorders can result
in growth problems, developmental delays, behavioral/emotional problems, deafness
or blindness, retardation, seizures, coma, and sometimes leading to death.
Identification is a multi-step process: (1) Blood specimens
from infants are analyzed by the laboratory (2) If a result is abnormal,
laboratory staff notifies case management / Clinic (3) The clinic provides
follow-up to assist linking families with appropriate providers to confirm the
test results. They confirm the infant has the disorder prior to treatment and ensure
the infant receives appropriate treatment.
The National Newborn Screening Project covers nearly 29
conditions. These include twenty inborn errors of metabolism, three
hemoglobinopathies (including Sickle Cell disease), two endocrine disorders,
one hearing loss disease and three other metabolic disorders. The twenty inborn
errors of metabolism include nine organic acid disorders, five fatty acid
oxidation disorders, and 6 amino acid disorders.