Frequently Asked Questions About Newborn Screening

Q1 .What is Newborn Screening?

Newborns can look healthy but may have a number of serious diseases that cannot be detected without specific screening. If left undetected and untreated, these diseases can lead to slow growth, mental retardation, seizures, epilepsy, blindness, brain damage or possible death as well. Early treatment can prevent these serious problems to a large extent.

Q2. How can parents help?

Parents can help by ensuring that the newborn’s blood specimen is withdrawn for testing before he/she leaves the hospital. Babies should ideally be tested after 24 hrs of feeding after birth. If the baby is premature or needs special care after birth such as blood transfusion or antibiotics, the test can be performed later.

Q3. How is the sample collected?

Screening process involves a painless heel prick to collect a few drops of blood on a special paper that is sent for analysis. Screening is safe and can reveal serious health conditions in the newborns before symptoms or effects occur.

Q4. What is Inborn Error of Metabolism (IEM)?

Many childhood conditions are caused by gene mutations that alter the primary protein structure or the amount of protein synthesized. Many mutations have no clinical significance, but some mutations result in diseases that might range from mild to lethal presentations. These hereditary biochemical disorders are collectively called Inborn Error of Metabolism. They present themselves in the Newborn period or shortly thereafter. Pathways link Synthesis or breakdown of proteins, carbohydrates and fats. Any disruption in these pathways or defects in enzyme /transport proteins results in toxic accumulation of substances leading to disease.

Q 5 . What are the different categories of IEM?

• Disorders of protein metabolism e.g. defects in Amino Acids
• Disorders of carbohydrate metabolism e.g. Glycogen storage diseases and Galactosemia
• Disorders of fatty acid oxidation
• Disorders of organic acids
• Lysosomal storage disorders
• Mitochondrial storage disorders
• Peroxisomal disorders

Q6 .What are the risk factors of IEM?

• Parental consanguinity – in relationship of persons by blood
• History of unexplained neonatal or sudden infant disease in siblings or maternal male relatives
• Specific population groups

Q7. What are the clinical manifestations that point towards IEM?

• Unexplained mental retardation, delayed/missing milestones, motor deficits and convulsions
• Unusual odour particularly during an acute illness
• Lethargy, poor feeding & intermittent episodes of unexplained vomiting
• Rapid breathing
• Visual and hearing impairment
• Abnormalities of skin and hair
• Liver enlargement
• Kidney stones
• Coma

Q8. What is Tandem Mass Spectrometry (TMS)?

Tandem Mass Spectrometer is an analytical instrument that can detect nearly 30 disorders of body chemistry in a single analysis of a very tiny blood sample that is collected on a special paper during the first few days of life. MS/MS comprises two mass spectrometers in series connected by a chamber that can break molecules into pieces and weigh them electronically.

Q9. Why should the tests be done at LPL?

• Tests performed on Tandem Mass Spectrometer are the gold standard for testing Inborn Errors of Metabolism in the world. Dr Lal PathLabs owns the latest instrument available for clinical testing and is the pioneer in Newborn Testing
• Fully automated testing from a single drop of blood
• Technical excellence state- of- the-art technique to provide clinically useful results
• Ability to measure more than one compound simultaneously with precision
• Easy transportation of blood sample on special paper which can be posted even from remote corners of India
• Continuous monitoring of results by participation in International Quality program of Central Disease Control, USA