Authored By: Dr. Preeti Sharma

Sr. Consultant Paediatrician

Protect your Newborn

What is newborn screening (NBS)?

Newborn screening refers to identification of the newborn babies and protect them from serious disorders which is treatable, but may not be visible at birth. This screening should be performed after 48 hours of the child’s birth.

Why should a baby have newborn screening?

Newborn screening is the only way to identify babies with serious disorders, who needs diagnosis and treatment. These disorders can cause injury to brain, nervous system and other organs and in rare cases, the condition may be untreatable. Early treatment will help in proper growth and wellbeing of the baby.

An affected baby looks healthy at the time of birth because symptoms are not visible until weeks or months later. Once the signs and symptoms begin to show, the adverse effects can become permanent and may even cause death. It is important that these disorders are detected as early as possible. A simple blood test can give you critical information to protect your newborn against these disorders.

What disorders can be detected by this screening?

• Phenylketonuria/ Amino Acid Disorders: This disorder prevents a baby to break down certain amino acids in their blood such as phenylalanine, ammonia and amino acids and accumulation can result in medical complications. Treatment with special diets and supplements can help the baby to prevent mental retardation, seizures, organ damage and death.

Congenital Hypothyroidism: This disorder is caused by the lack of thyroid hormone, which leads to poor mental and physical growth. If treated early with thyroid medication, the child will grow and develop normally.

Galactosemia: This disorder occurs when galactose cannot be breakdown in the baby’s body. Galactose is found in breast milk and other milk products. If the galactose level is high it can be life-threatening and cause damage to the brain and liver and can occur as early as one week after birth. When started early, a special milk-free diet can prevent these problems.

Organic Acid Disorders: This disorder is caused when a baby is unable to convert amino acids into energy. It affects the metabolism of the baby and damages the heart, muscles and other organs. Treatment with a low-protein diet and supplements can help prevent vomiting, seizures, coma and death.

Fatty Acid Oxidation Disorders: This disorder is caused when a baby is unable to convert fat into energy. This leads to accumulation of toxic fatty acids and affects the metabolism of the baby. Treatment with a low-fat diet, dietary supplements, and avoidance of fasting can help prevent low blood sugar, coma and death.

Hemoglobin Disorders: These disorders are caused by defective formation of hemoglobin. Some of these disorders can be mild but some may be severe enough to require repeated transfusions and even bone marrow transplants. Early diagnosis is associated with better outcome.

• G6PD deficiency: The deficiency of this enzyme can cause prolonged and/or severe jaundice in babies. In this deficiency use of certain drugs can cause severe side effects. So early identification helps in preventing these complications.

• Biotinidase deficiency: This enzyme deficiency cam lead to neurological disorders and seizures in babies. Treatment with biotin supplements after early identification can prevent neurological issues.

When and how this screening is done?

A few small drops of blood is taken from the newborn baby’s heel which is collected by the experienced hospital staff within 48-72 hours of your newborns birth.

What if we have no family history of any disorders?

Parents with no history of these problems or already have healthy children can also have children with these disorders. Most newborns with these disorders come from families with no previous history of any particular conditions.

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