Newborn screening is a part of all birth plans in India. This is because the baby might look healthy but there could be existing diseases. The screening includes a simple blood test. The parents are notified if the baby requires more scans. It will mainly include pulse oximetry and hearing tests. The main purpose is to detect rare health conditions at birth. These are usually genetic, hormone-related or metabolic conditions. Most babies come out healthy without complications. The screening is done soon after birth. This can ensure quick treatment to reduce the side effects of diseases on the infant.
September is newborn screening awareness month. All parents must make an effort to know and understand the procedure and why it is important. Take a look at the guide below to make an informed decision once your baby is born.
How is the Screening Done?
The baby’s heel is pricked with a fresh specialized need called a lancet. It is used to collect a few drops of blood on a filter paper. There are no chances of pain or infection. The sample is then sent to the lab where the test is performed. The leading hospitals use a technique called Tandem Mass Spectrometry. The results are ready within 4-5 days. The results are usually normal without any alarming signs. The staff will inform the parents in case of concern.
Other Test Procedures
The baby might have to undergo 2-3 other examinations. An ultrasound scan is done to check if the child has a heart problem that can lower the oxygen. The main aim is to detect congenital issues. It is done by placing a pulse oximeter machine and sensors on the baby’s skin. Hearing screening is suggested to check for hearing loss. Tiny earmuffs are attached to the ears and special devices are used to see if the infant responds to sounds.
Conditions Detected in a Screening
The existing complications are divided into 4 categories. This offers an appropriate care plan to help the baby recover soon and go home.
Metabolic Problems: The disorders include citrullinemia, maple syrup urine disease, medium-chain acyl CoA dehydrogenase (MCAD) deficiency, tyrosinemia and methylmalonic acidemia. These occur when certain enzymes are missing or not working as they should.
Haemoglobin Problems: Sickle cell disease, beta-thalassemia and haemoglobin SC disease are common issues. Haemoglobin in red blood cells carries oxygen throughout the body. Any disruptions in the process can lead to these issues.
Hormone Problems: Congenital adrenal hyperplasia and congenital hypothyroidism are most likely to occur when not enough hormones are made by the glands.
Rare Conditions: X-linked adrenoleukodystrophy, galactosemia, mucopolysaccharidosis type 1, cystic fibrosis, pompe disease and spinal muscle atrophy.
A diagnosis is recommended if the results are not normal. If the diagnostic test reports are normal, no further screening will be required. Otherwise, the doctor can guide you about the next steps regarding how to manage the conditions and care for the child.
Ultrasound scans or blood tests do not have side effects on the child. It is extremely crucial to get the tests done, especially if you have an elder child with genetic conditions.