09 May

Newborn Screening Tests

The day has arrived and you have given birth to a beautiful baby. Congratulations! Anjali, the protagonist of our Series was a little concerned if everything was normal with her baby. She wanted to find out form the Doctor about any tests which are advised to check for any newborn diseases.

She believes it is always better to detect any disease at an early stage and nip it in the bud, rather than wait for it to blow up.

The doctor advises her to get the newborn screening test done. Newborn screening is a medical procedure where a newborn baby is screened within 72 hours of birth for any disorders or diseases that might affect the baby’s normal functions. The baby is tested for various Metabolic disorders, blood diseases, genetic disorders

In Many countries of the world, these tests are mandatory, but in India, these tests are offered only if the parents wish to get them done. These tests can be expensive and may not be affordable for everyone, and not everyone knows about it too. So awareness of these tests is another factor that they are not very popular in India. Most often, babies who are given an NBS are normal and no abnormality is detected.

These tests are done shortly after the birth. The nurse will take the blood samples from the baby’s heels within 24-48 hours after the birth. The blood tests are done through the Heel stick test. It is just a quick prick in your baby’s heels to take a few drops of the blood sample for the test. It is usually tolerated well by the baby. You can request to be present with the baby and comfort the baby. The blood samples are then sent to the lab where tests are done and diseases if any are effectively identified. The results are usually communicated back to the hospital within 48 hours. The procedure also includes a hearing test. The tests may cost from 2500-6500 INR

The diseases which are usually tested during this screening are -

  • Maple syrup urine disease: A metabolic disorder where the baby’s body is unable to break down certain proteins in the urine resulting in a sweet-smelling urine, like that of maple syrup
  • Congenital Adrenal Hyperplasia: A genetic disorder where the genes undergo mutations to result in less production of sex steroids
  • Glucose-6-Phosphate Dehydrogenase Deficiency: A genetic condition where the body continuously destroys red blood cells.
  • Phenylketonuria: A metabolic disorder where amino acid builds up in the body
  • Galactosemia: In this condition, a baby is unable to process galactose, the sugar in milk. Inability in processing galactose may lead to liver and brain impairment
  • Sickle Cell Anemia: In this condition, the red blood cells are not the right shape and hence cannot work as normal red blood cells thus causing anemia
  • Hearing Test: The newborn is tested for any hearing inability

The reason behind these tests is to detect a disease if any at its earliest stage. This gives the doctors a lot of time to treat the babies and cure them of the diseases.

Last modified on Monday, 06 August 2018 13:02
Dr Padma

Dr Padma is a Family care physician and is the Founder and CEO of MedHealthTV.


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