Newborn screening is key to detect diseases early

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Newborn screening is key to detect diseases early

Monday, 26 December 2022 | Chandra Ganjoo

If newborns are not examined immediately, they might suffer brain damage, poor body growth, and other problems

Newborn screening aims to identify various health problems, disorders, or inborn errors of metabolism (IEM) and enable doctors and parents for prompt intervention. There is a greater incidence of certain metabolic abnormalities and endocrinopathies in newborns that, if identified later, can be fatal.

In several developed nations, NBS is a mandatory test. In many countries, phenylketonuria and hypothyroidism screenings are ubiquitous. IEM may cause physical difficulties and brain damage in newborns, and if not diagnosed and treated promptly, it can be life-threatening. In contrast, NBS can detect and diagnose these problems from birth, allowing the kid to enjoy a healthy life.

The newborn screening test is typically administered between 48 and 96 hours after birth.Other tests are also conducted as a part of NBS that do not need blood, such as hearing and pulse oximetry. Once a blood sample has been obtained, it is forwarded to the screening laboratory for analysis.

The findings are available within a week after a newborn’s birth. Suppose a test is positive for any of these illnesses (presumptive positive). In that case, physicians send the infant for further testing to establish whether he or she is actually positive or truly negative for that ailment.

Following are the most common diseases or disorders that can be diagnosed with newborn screening tests:

Congenital Thyroid

Newborns can have congenital hypothyroidism or decreased thyroid activity at birth. When it is not diagnosed and treated right after birth, most affected children experience neurologic abnormalities, deafness, growth failure, and mental retardation.

Phenylketonuria (PKU)

PKU babies lack phenylalanine hydroxylase, an enzyme required to break down the amino acid phenylalanine in food. This flaw results in an accumulation of  phenylalanine in the blood, which harms the brain. An infant with PKU is first given a specialized formula before transitioning to a diet reduced in phenylalanine. Beginning dietary therapy in the first few weeks of infancy can stop the disease’s effects, including learning impairments and brain damage.


The absence of an enzyme required to process the sugar galactose is the cause of this illness, which is spelled galactosemia with an emphasis on the lac sound. This incapacity results in growth failure, nausea, cataracts, a liver illness that worsens over time, and mental retardation. The clinical effects of the condition gradually lessen or vanish after removing galactose from the child’s diet.

Sickle Cell Disorder

Babies with this severe hereditary illness have red blood cells resembling a sickle after donating oxygen to the tissues. The sickle-shaped cells may get caught in blood vessels, which can harm organs and cause discomfort. However, since children with this disease are significantly more prone to endure serious infections, excruciating pain, organ damage, and strokes, early diagnosis of the disease is crucial.

Maple Syrup Urine Disease

Leucine, isoleucine, and valine are branched-chain amino acids involved in the metabolism of maple syrup urine disease (MSUD), a genetic disorder that causes mental retardation and occasionally even death. A customized diet can reduce the side effects caused by MSUD.


An enzyme that transforms the amino acid homocysteine into cystathionine is lacking in the hereditary illness homocystinuria. Mental retardation, vision issues, bone deformities, and stroke are side effects of the condition. A particular diet and large dosages of vitamin B6 or B12 can avoid or lessen these issues.

Deficiency in Biotinidase

A hereditary disease called biotinidase deficiency causes a lack of the vital B vitamin biotin. This is the outcome of frequent infections, hearing loss, clumsy movements, convulsions, and mental impairment. The baby can avoid these catastrophic outcomes by receiving additional biotin.

Congenital Hyperplasia of the Adrenals- Newborns have the genetic disease congenital adrenal hyperplasia (CAH). It results from flaws in the adrenal hormones’ synthesis. Extreme cases can result in a loss of salt that is fatal. Salt and the missing adrenal hormones are replaced in the treatment.

MCAD - This hereditary condition, pronounced ‘EM-cad’, results in a lack of an enzyme necessary for converting fat into energy. A seemingly healthy youngster may suddenly experience convulsions, respiratory failure, cardiac arrest, coma, and death. Frequent meal (or glucose) consumption is part of the treatment for MCAD, as does avoiding fasting. If newborns are not examined immediately, they might suffer brain damage, poor body growth, physiological and developmental problems, respiratory difficulties, & even mortality.

(The author is Group Chief Executive Officer, Trivitron Healthcare)

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