Newborn Screening

Newborn screening is a simple test that is conducted shortly after birth to identify congenital or genetic disorders in Newborn babies that could result in major disabilities if not managed early and appropriately. Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is best for the baby and the family if these conditions are detected and treated early. SYNLAB offers an expanded metabolic screening and can confirm or exclude disorders of the newborn infants (32 disorders) and in elder children (27 disorders).

The development of a new screening technique known as tan­dem mass spectrometry (often abbreviated as MS/MS) can detect the blood components that are elevated in certain disor­ders, and is capable of screening for inherited metabolic disor­ders with a single test such as sickle cell anaemia, G6PD, cystic fibrosis, hypothyroidism, biotinidase defi­ciency, galactosaemia, adreno genital syndrome (AGS), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, tyrosinaemia type I, MCAD deficiency, propionic acidaemia, glutaric aciduria type I, isovalerianic acidaemia and methylmalonic acidaemia and other 15 more rare disorders. Furthermore, the used method also detects aber­rant amino acid concentrations (including Tyrosinemia Type I).

How is the screening done?

For the screening, capillary blood drops are placed on a special Filter Card, which will be available from any SYNLAB office. The time of withdrawal is 3rd to 6th day of life.

The newborn screen is most accurate if the infant's blood is taken after the first 36 hours of their life. If it was done before 36 hours of age, a second sample needs to be taken if the infant is 1 to 2 weeks old.