One Test That Detects More Than 50 Hidden Genetic And Metabolic Conditions

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When her daughter, Mayuri was born last May, 33-year-old Juhi was ecstatic. “After 6 hours of terrible labor, she finally made her entry looking like a grumpy angel,” recounts Juhi, while reminiscing about her daughter’s birth. “Despite being covered in white goo and appearing all shriveled-up like a prune, Mayuri looked perfect to me. Perfect and beautiful!”

And she was. Born at 3.5 kilos, Mayuri was hailed a healthy little tyke by the doctors. “She was absolutely healthy at birth, and since she is our first child, we didn’t suspect anything in the beginning. We simply dismissed the constant diarrhea and feeding difficulties as a normal by-product of transitioning from the womb to the world.” But fast forward 3 months later and Mayuri’s diarrhea and vomiting had yet to cease. Her skin and eyes had taken on an unhealthy yellow tint, and a physical exam would unearth an enlarged liver along with other complexities.

“I was absolutely terrified,” Juhi shudders in recollection. “It was a difficult time, we had no idea what was wrong with her.” Mayuri’s doctors would later request a urine sample to run a ‘newborn screening’ in order to rule out any metabolic disorders. Her test would return with a positive diagnosis for ‘galactosemia’ – a rare genetic metabolic disorder that hinders the body’s ability to digest the sugar galactose (1), (2). The treatment involves an absolute exclusion of lactose from one’s diet.

“Just one simple test that is carried out regularly in the West after a child’s birth,” Juhi recounts in wonder regarding the practice of newborn screening. “If only we’d known as well, it would have saved us so much suffering and fear. My daughter simply had to avoid lactose!”

And Juhi isn’t alone in this sentiment. An estimated 26 million babies are born in India every year (3). Yet, a mere 1% of these babies eventually undergo this vital test – ‘neonatal or newborn screening.’ In over 60 countries, including Australia, New Zealand, and the USA, newborn screening is a mandatory practice, offered by most public hospitals and carried out within the first 72 hours of a child’s birth.

However, in India, the rate of newborn screenings is dismally low, which has contributed to an alarmingly high infant mortality rate of 44 per 1000 live births in our country (4). One of the biggest reasons for a lack of a proper neonatal screening program in India has been attributed to the low level of awareness amongst expectant parents, their family members, and even health care professionals themselves.

So, What Is Newborn Screening & Why Is It Important?

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Newborn screening is a very simple screening test that is usually given to a baby in order to check for hidden genetic or metabolic conditions that a doctor wouldn’t be able to diagnose by simply looking at the child. And appearance is one of the greatest dilemmas for in most instances, as was the case with little Mayuri, babies with such medical conditions usually appear healthy and normal at birth. But a simple newborn screening could help unearth more than 50 hidden medical conditions, including haemoglobinopathies, endocrine disorders, infectious diseases, carbohydrate disorders, and inborn errors of metabolism (5).

Hence, most health care practitioners advocate the use of newborn screening for it is crucial that hidden medical conditions be detected straight from birth so that they can receive treatment right away (6). Children who are diagnosed early can successfully lead normal lives as long as they are treated in time and follow up with a specialist consistently.

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However, if left to progress undetected, these conditions could develop into serious illnesses, which produce ill-effects that are often permanent. Additionally, in some critical conditions, late diagnoses and a lack of timely treatment could even lead to brain damage or death. In fact, the absence of a proper newborn screening program in India has already produced a significant healthcare burden. Today, roughly 5-15% of sick newborns in India suffer from metabolic disorders, while 1-4% of the population is mentally retarded (7).

Therefore, parents-to-be are highly encouraged to seek a newborn screening after the birth of their child in order to ensure their well-being. One of the most reliable newborn screening services available in India today is BabyShield, provided by LifeCell International, India’s #1 stem cell bank!

BabyShield: The Best Defense For Your Child

BabyShield is a complete panel of pre- and postnatal diagnostic tests that not only entails a newborn screening test but also includes a maternal infectious diseases test, a prenatal screening, and a first milk test that truly make it the most complete and exhaustive of preventive healthcare services.

Accredited by the National Accreditation Board for Testing & Calibration Laboratories (NABL), BabyShield has a two-level screening process that is dependent upon 2 samples – the screening is first conducted on the blood sample taken via a simple heel prick, then followed by a confirmation on the urine sample, thus reducing the chances of any false alarms (8).

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But that’s not all. As a service, BabyShield has been wonderfully designed to support a mother and her child from pregnancy to birth by also providing a family with assistance if a diagnosis happens to be made. BabyShield is associated with key treatment experts across India that can help provide necessary treatment and management guidance for babies who happen to be diagnosed with a medical condition. Additionally, BabyShield’s partnership with global nutrition expert, Nestle, can also make available special nutritional supplements for babies diagnosed with key metabolic disorders (9).

Undoubtedly, parenting comes with tough decisions. But when the question is your child’s well-being, there’s only one right answer every single time. Hence, we encourage parents to take every precaution they can to ensure their baby’s good health. Wishing you a healthy and safe pregnancy term!