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Newborn Screening - Disorders
Disorders screened in baby1st test
baby1st test looks for more than 50 rare, but serious disorders, which without early intervention can cause health problems such as physical disability, mental retardation and even sudden death.

The test allows infants to be identified and treated before they get sick, preventing serious health problems or even death.

The disorders screened fall into the following groups -
Metabolic disorders commonly known as Inborn error of metabolism (IEM):
When the body is not able to break down (metabolise) certain substances in food like fats, proteins or sugars, they can accumulate in the body and cause serious health problems.

The IEM’s identified are classified as -

Amino Acid Disorders: these are caused when a baby is unable to break down certain amino acids in the blood. Treatment with special diets and supplements can help prevent mental retardation, seizures, organ damage and death.

Fatty Acid Oxidation Disorders: these are caused when a baby is unable to convert fat into energy. Treatment with a low fat diet, dietary supplements, and avoidance of fasting can help prevent low blood sugar, coma and death.

Organic Acid Disorders: these are caused when a baby is unable to convert amino acids into energy. Treatment with a low-protein diet and supplements can help prevent vomiting, seizures,
coma and death.

Endocrine disorders: The endocrine system, which is responsible for producing hormones, can sometimes produce too much or too little of some hormones, leading to sickness or developmental disabilities.

Congenital Hypothyroidism:
It is caused by the lack of thyroid hormone, which can lead to poor growth and mental retardation? If found early and treated with thyroid medication, the child will grow and develop normally.

Congenital Adrenal Hyperplasia (CAH): 21-Hydroxylase Deficiency
CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 9,000 Texas newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD):
Defects in an enzyme required to reduce oxidative damage in cells. It can cause neonatal jaundice and in certain events, hemolytic crises or the abnormal breakdown of RBC’s. Avoidance of drugs and foods that cause hemolysis is the most effective treatment against these disorders

Galactosaemia: occurs when a baby cannot break down the galactose part of milk sugar. In some cases, life-threatening damage to the brain and liver can occur as early as one week after birth. When started early, a special milk-free diet prevents these problems.

Cystic Fibrosis: caused by sticky secretions in the lung and gut. It is treated with dietary supplements, antibiotics and physiotherapy to help prevent poor growth, chest infections and shortened lifespan.
Biotinidase Deficiency (BIOT)
BIOT is an enzyme deficiency that occurs in newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin. (1)

For list of disorders click here.
Newborn Screening - Technology
We use a combination of versatile technologies like MS/MS and DELFIA systems for detection of disorders.

These two technologies have proved for their reliable screen results and very low false positives.

MS/MS and DELFIA are endorsed by CDC newborn quality assurance program and are used worldwide for screening of IEM's.

MS/MS sensitivity: a needle in a haystack
It has the ability to detect and quantify compounds in complex mixtures with high specificity, sensitivity and accuracy without the need for time consuming separation techniques.

Dissociation Enhanced Lanthanide Fluorescent Immunoassay (DELFIA) – is a method that employs Time Resolved Flourimetry (TRF) and provides an optimal tool for bio-affinity assays with excellent sensitivity (10x), dynamic range, stability and flexibility.