Directory of services

Newborn Screening

SCOPE OF SERVICE

Newborn Metabolic Screening Program
Metabolic services are an integrated clinical and laboratory based service. Department staff include a consultant metabolic pediatrician, a Diochemistry, consultant and biochemistry scientists. These professionals perform specialized metabolic tests that can detect disorders that include:

  • Aminoacidopathy.
  • Fatty acid oxidation defects.
  • Organic aciduria.
  • Endocrinopathies.
  • Hemaglobinopatijes.


The expanded newborn screening program at Saad Specialist Hospital includes screening for the following disorders:

  • Thyroid diseases.
    • Congenital adrenal hyperplasia
  • Phenylketonuria (PKU).
  • Maple syrup urine disease (MSUD).
  • Urea cycle defects (UCD).
  • Tyrosinemia.
  • Homocystinuria.
  • Medium chain acyl coenzyme A dehydrogenase deficiency (MCAD).
  • Galactosemia.
  • Organic acidemia.
  • G6PD.
  • Sickle cell disease.

Newborn Hearing Screening Program

New, state-of-the-art technology is on offer to parents of newborns to screen for hearing problems. This is a problem that can be detected early and an intervention program can be brought to bear that brings a new level of flexibility, intelligence, safety, and convenience to every aspect of early hearing screening detection. The new screening test aims to:

  • Establish correct diagnosis early.
  • Establish effective therapy early.
  • Assist parents to understand and manage the condition.
  • Help parents appreciate the value of health promotion; early detection, and disease prevention in future children.