What you need to know about the Genetic Newborn Screening Test? The Parent’s Guide to Genetic Newborn Screening Test

by Dr. Parimala V Thirumalesh

The birth of a child is a special moment for every family. Often, the first concern of a new parent is whether the child is born healthy. Typical tests only check for the health of the baby at the time. However, a newborn screening test can be done to check for various health disorders that may not be apparent at the time. The best pediatrician in Bangalore can tell you more about this screening and how it can benefit your child.

Newborn Screening

A newborn screening test is done between 24 to 48 hours after birth to check for numerous genetic and developmental conditions. A simple blood test is conducted which is then analysed for a host of possible diseases.

This test allows your doctor to identify possible disorders in the child before the disease develops or symptoms manifest thus taking timely preventive action. Not only does it help the child at the infancy stage but creates a foundation for a healthier future.

A lot of diseases, such as phenylketonuria (PKU), do not show any apparent symptoms in the early stages causing them to go undetected. Once fully developed, it can be a serious condition that can have a huge bearing on the child’s developmental future. Early detection and treatment with a newborn screening test can help circumvent this concern and support a healthy life.

Newborn Screening Test List

Newborn screening tests may screen for up to 50 diseases, including phenylketonuria (PKU), sickle cell disease, and hypothyroidism. About 3,000 newborns test positive each year for one of these severe disorders.[1]

The tests may vary across hospitals or states. To ensure you don’t miss out on any of the crucial tests, schedule a consultation with the best pediatrician in Bangalore. Typically, the newborn screening tests include:

Blood Test

Blood is drawn from the newborn’s heel and sent for analysis to the lab. The screening is done for numerous genetic and other disorders some of which include:

  • Haemoglobin-related concerns such as sickle cell disease, beta thalassemia, and others.
  • Metabolic screening for phenylketonuria (PKU), methylmalonic acidemia, tyrosinemia, citrullinemia, maple syrup urine disease (MSUD) and more.
  • Hormone conditions such as congenital hypothyroidism and congenital adrenal hyperplasia
  • Health conditions including cystic fibrosis, spinal muscle atrophy (SMA), biotinidase deficiency, Pompe disease, galactosemia, carnitine uptake defect/carnitine transport defect (CUD) and more.

Hearing Test

The newborn hearing screening test is conducted to check your baby’s hearing ability. This is done with the help of earphones to check the child’s response to sound.

Critical Congenital Heart Defects Test

This newborn screening test is done to gauge the child’s heart health. The sensors of a pulse oximeter machine are placed on the baby’s skin to check the blood oxygen levels.

To know what tests are important for your child and for assistance with the newborn screening test price, be sure to consult with your doctor. This screening helps detect disorders in the newborn and prevents them from developing or mitigating their symptoms through timely medical intervention.

Understanding Test Results

The bloodwork may take up to a week to be completely analysed while the other two tests will offer instant results. Waiting for results can be daunting for parents so it is important to remember that this screening is being done to help the child before there is a major cause for concern.

In case the blood test comes back with any positive indicators, your pediatrician may order additional tests or refer you to another specialist. Keep in mind that a positive indication does not confirm the existence of a disease. In some cases, simple changes to the baby’s food patterns can help mitigate the occurrence of a disease. Other treatment solutions may include supplements, medicines, or routine check-ups.

Talk to your doctor about the newborn screening test and any concerning results honestly to better understand how to care for your child.


For a lot of parents, the thought of subjecting their newborn to screening tests can be uncomfortable. However, this screening which is done when the baby is 1 or 2 days old can help pave the way for your child to develop into a healthy adult. Several genetic and metabolic conditions do not show any symptoms in the early years which may cause them to worsen before they are detected. For more details on this screening, do reach out to the best pediatrician in Bangalore for a consultation.

[1] https://www.ncbi.nlm.nih.gov/books/NBK132148/