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Screen your baby

Screen your baby

Act timely! Screen your baby for a healthier tomorrow
All that it requires is just a drop of blood

As parents, we wish to have a healthy baby and aspire to a bright future for our precious one. Though born healthy, most babies may have an underlying disorder that may be life-threatening or may lead to permanent mental retardation, if not detected immediately after birth. Screening of your newborn will help in the early diagnosis and treatment of these disorders and thus prevent adverse outcomes in your baby.

Newborn screening programs are mandatory in all developed countries, but unfortunately not so in our country. We now offer you an opportunity to screen your baby for selected disorders. Let this be your gift to your newborn baby to ensure a bright future. Do not let this opportunity slip through!

Here are answers to some questions you may have:

  1. What is the purpose of the newborn screening program?
    The purpose is to test the newborns for selected disorders, for which early diagnosis and treatment can prevent illness or mental retardation.
  2. My baby seems quite normal. Are the tests still necessary?
    Yes, these tests are necessary because most infants with metabolic disorders show no obvious signs of disease immediately after birth. In these disorders, there is an invisible problem in one of the many chemicals which are produced in the body, and which lead to symptoms appearing a few days or weeks later.
  3. How are the tests done?
    Before your baby is discharged from the hospital, 2 to 3 drops of blood will be collected and deposited on a filter paper for the necessary tests.
  4. Which disorders will be screened?
    In this program, seven most common disorders encountered in the Indian population will be screened in all infants viz.: Congenital Hypothyroidism, G-6-PD deficiency, Phenylketonuria, Cystic fibrosis, Biotinidase deficiency, Galactosemia, and Congenital adrenal hyperplasia.
    1. Congenital Hypothyroidism (CH)
      This disorder results from the failure of the thyroid glands to produce thyroid hormones in adequate amounts, which may lead to poor physical growth and mental retardation if left untreated. The devastating effects of CH can be prevented, if the diagnosis is made early and treatment is started before 2-3 weeks of age. The frequency of CH in India is estimated to be 1:2000 births.
    2. Glucose-6-Phosphate Dehydrogenase (G-6-PD deficiency)
      A defect in this enzyme reduces the ability of the body to protect red blood cells. It results in anemia or jaundice, which in the neonatal period can damage the brain. Affected persons are sensitive to anti-malarial drugs, fava beans, sulfa drugs, and large doses of vitamin C. This can be prevented by early treatment. The frequency of G-6-PD deficiency varies from 1:20 to 1:10 births as reported by different studies.
    3. Congenital Adrenal Hyperplasia (CAH)
      This disorder is caused by the absence of an enzyme in the cholesterol pathway. If left untreated, it results in a life-threatening crisis within the first weeks of life and abnormal sexual growth. These complications can be prevented by timely detection and treatment. The frequency of CAH is about 1:4000 newborns.
    4. Phenylketonuria (PKU)
      It is a genetic disorder caused by an inability to convert phenylalanine to tyrosine. As a result, excessive amounts of phenylalanine and toxic metabolites accumulate causing various degrees of mental retardation. The symptoms can be clearly reduced with a diet low in phenylalanine, and early detection is critical in starting the treatment and ensuring normal brain development. The reported incidence is about 1 in 30,000 newborns.
    5. Cystic Fibrosis (CF)
      CF causes chronic obstructive lung disease, airway infections, and gastrointestinal abnormalities. Early detection and treatment can significantly improve the quality of life. The precise magnitude of the problem is not known in India
    6. Biotinidase Deficiency (BIOT)
      It is a metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. Symptoms include seizure and possible skin disorders, followed by developmental delays, speech problems, and possible vision and hearing difficulties. Biotinidase deficiency has a reported incidence of 1 in 60,000 births.
    7. Galactosemia (GAL)
      Galactosemia is an inherited disorder caused by a deficiency of one of three enzymes responsible for the metabolism of a-D-galactose. If not diagnosed and treated within the newborn period, this disorder can lead to diarrhea, dehydration, jaundice, hepatic failure, hypoglycemia, cataracts, developmental retardation, and death within a few weeks. Treatment of the disease consists of the withdrawal of all foods containing lactose and galactose from the diet. Galactosemia has a reported incidence of 1:30,000 births.
  5. When will the reports be available?
    The tests are done twice a week at JSS Hospital, and reports will be available within 3-4 days after the collection of the sample. If the test is positive, you will be informed immediately.
  6. What needs to be done if the screening test is positive?
    The babies detected positive in the screening program will be recalled for confirmatory tests. Once the diagnosis is confirmed you will be referred to your doctor for management.
  7. Whom to contact for further information?
    For further information kindly contact: The Department of Biochemistry, JSS Hospital, Mysuru. Phone: 0821 – 2335555