Tests to ensure your baby is hale and hearty

Your baby may look healthy but might have a serious condition that cannot be detected during initial screening. They can be treated if diagnosed early

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KOCHI: There is a possibility that your baby is born with a metabolic condition but shows no signs of it initially. Some of the conditions might often go undetected during initial screening, making the early diagnosis and treatment very difficult.

The Newborn Screening (NBS) is a blood test done before a baby is discharged from the hospital. Babies are examined for a variety of genetic and metabolic disorders that may interfere with their normal physical and mental development. In some cases, parents may carry a defective gene that was not detected, as they are often asymptomatic. But these parents can transmit the disease to their babies.

To perform the screening test, a few drops of blood are taken from your newborn’s heel (called a heel prick test). However, the NBS alone cannot diagnose a disease though it is very effective.

A positive newborn screening test or upon confirmation of the diagnosis, the baby may have to be referred to a specialist for further testing and treatment. By identifying a condition at this stage, the disease can be monitored during different stages of the child’s growth.

Some of these conditions may require lifelong dietary management. Keeping your baby safe is a top priority. Effective newborn screening can save the lives of babies. It can detect conditions that need prompt treatment for a better chance of survival.

Some of the essential tests of NBS are

• Congenital Adrenal Hyperplasia (CAH): CAH is an inherited condition that affects the adrenal glands. The effects of CAH can be a fall in blood sugar and altered levels of sodium and potassium in the body and water disturbances are called shock and adrenal crisis. The main treatment for classic CAH is the replacement of the hormones that are deficient in the body.
• Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency: Deficiency of G6PD enzyme causes faster breakdown of red blood cells. Severe jaundice results, which can cause irreversible brain damage in a newborn child.
• Phenylketonuria (PKU): It occurs when the enzyme Phenylalanine hydroxylase (PAH) is either missing or not working properly. Without treatment, a child with PKU will have an intellectual disability. Most children need to eat a special diet with very low-protein foods.
• Galactosemia: People with galactosemia have a problem digesting a type of sugar called galactose. Galactose is found in milk and milk products. Excess galactose in the blood affects the brain, eyes, liver and kidneys. Most untreated children eventually die of liver failure. Surviving babies, who remain untreated, may have an intellectual disability and other damage to the brain and nervous system.
• Cystic fibrosis (CF): CF is an inherited condition that causes problems with lung function and also often with digestion. CF causes thick sticky mucus and fluids to build up in some organs, especially the lungs and the pancreas. There is currently no cure for CF. However, children who receive prompt and careful treatment have the opportunity to live healthier and more productive lives.
• Biotinidase deficiency: Biotinidase is an enzyme needed to free biotin from the food we eat. If not treated, a child might develop muscle weakness, hearing loss, vision problems, hair loss, skin rashes, seizures and developmental delay.