Inborn metabolic disorders, genetic and development disorders can make have a significant negative impact on the health of a baby. If left undetected and untreated, these disorders can be life threatening and so must be identified early. And this is possible through certain important health screening tests for the new born. The Newborn screening tests aim to find evidence for certain endocrine and genetic disorders besides identifying the risk of some diseases before they actually start affecting the baby’s health. New born care must include tests for the early detection and treatment for prevention of serious illnesses, premature deaths and problems like mental retardation.
What are Inborn Metabolic Disorders?
The metabolic disorders in a new born are generally caused by the abnormal accumulation of the natural chemicals produced by the body. These disorders can lead to brain damage or hamper the physical development of the baby and in certain cases prove to be fatal. But quite often, these disorders do not result in any symptoms in the baby at the time of the birth. Such situations require screening of all new born babies through a blood test wherein 5 drops of blood are taken by pricking the heel of the baby with a lancet. The blood is collected on a special filter paper and sent for testing.
Screening is recommended as an essential part of new born care since in most cases the babies having a disorder will not show any symptoms. Timely diagnosis can be followed up early treatment allowing the baby to live a healthy life.
Newborn Screening: Integral Part of Neonatal care
It is possible to prevent the occurrence of serious illnesses in otherwise healthy born babies by carrying out certain essential tests, explains the best pediatrician in Delhi. And that is why newborn screening for common metabolic and genetic disorders has been made an integral part of neonatal care in India too. New born screening is a must to reduce the neonatal fertility rate which continues to be around 24 per 1000 births.
The five conditions for which neonatal screening is recommended are:
- Hearing loss: If not corrected before six months of age, this condition can result in permanent speech and hearing impairment.
- Congenital hypothyroidism: Early diagnosis can prevent intellectual disability.
- Congenital adrenal hyperplasia or CAH: This condition if not detected on time can result in mortality or morbidity or general abnormalities.
- Glucose-6-phosphate dehydrogenase G6PD deficiency: This condition is more prevalent in the northern parts of India.
- Others: Screening for Sickle cell disease and other hemoglobin opathies is recommended in areas of high incidence.
When is Newborn Screening Done?
The earlier the newborn screening is done, the better are the chances of getting correct results and early detection of any problem. The blood sample should be taken prior to administering any kind of antibiotics or transfusing blood or blood products.New born screening by the best pediatricians in Delhi are generally recommended when the baby is 48 hours to 13 days old through a technology called Tandem Mass Spectrometer or TMS. This technology is being widely used as it increases the number of metabolic disorders that can be detected from dried blood spot samples.
The test to check the hearing ability of the new born is done by placing a tiny earpiece in the infant’s ear or by putting electrodes on the baby’s head when it is quiet or asleep. The CCHD screen test is carried out by placing a soft small sensor on the baby’s skin and attaching it to an oximeter to check the oxygen levels in the hand and the foot.
One important thing to note is that newborn screening is not a diagnostic test. Instead it identifies babies who may have a condition and will have to be followed up by further tests to determine whether the condition is actually present.