Benefits of blood drops for infant screening

Blood, drops, New Born, Infant, Screening

Hyderabad, Sept 12 (TN): Trivitron Healthcare, one of India’s largest medical technology companies of Indian origin in association with NeoGen Labs, a leader in Newborn Screening, and Rainbow Hospital, Hyderabad hosted a Symposium on the occasion of Newborn Screening Month to highlight the relevance of the topic.


Newborn Screening is a pediatric screening service provided to newborn babies to assess the possibility of genetic disorders caused by “Inborn Errors of Metabolism (IEMs)”.


A drop or two of blood collected by a simple heel prick can screen a newborn baby for over 50 IEMs which cause development delay or death if undetected and untreated.


Newborn Screening is an established public health program in most Western countries but it is still growing in India, largely driven by the private sector.


Today, most leading private hospitals and some government hospitals have a Newborn Screening Program in place but awareness and implementation by all hospitals and government is still a challenge.


IEMs can lead to permanent neurological, cognitive, tactile, and physical damage in the child but if detected early enough, they can all be treated leading to completely normal development.


One of the factors contributing to their high prevalence in India is consanguineous marriages and marriage within communities over generations. Studies indicate that up to 15% of newborn sick babies could have treatable metabolic disorders which go unknown leading to mental retardation and death.


Addressing the media Dr Dinesh Chirla, Director, NICU, Rainbow Hospital; Dr Radha Rama Devi, New Born Screening expert; Dr Rohit Cariappa, Chief Scientist, NeoGen Labs; Dr Saurabh Dani, Ankur Hospital, Mumbai & Mr Vikas Bhatia, Parent Advocacy said, New born Screening is a simple test done 24 hours after a baby is born to identify serious disorders the baby might be born with.


While most babies with these disorders look healthy at birth, their body is not processing food properly. By detecting metabolic disorders and initiating treatment early, serious health problems can be avoided.


In almost 78 countries new born screening is public health program and compulsory before discharge from the hospital. The test is simple, just a few drops of blood is taken from the baby’s heel. These disorders are treatable and needs early detection.


The common disorders which need New Born screening are:


Congenital Hypothyroidism, a condition that affects babies from birth and results from a partial or complete loss of thyroid function. If untreated, it will lead to intellectual disability and abnormal growth.


Congenital Adrenal Hyperplasia, an inherited disorder that affects the adrenal glands leading to production of excess androgens – male sex hormones. It may cause ambiguous genitalia in females who appear to be male with non-palpable testes. Such babies are at risk for life threatening adrenal crisis, shock and even death.


Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD), a genetic disorder that occurs most often in males. In such individuals a defect in an enzyme called G6PD causes red blood cells to break down prematurely causing haemolytic anaemia. Not knowing about the disorder in the infant period could have fatal consequences for the baby.


Biotinidase Deficiency (BIOT) is an inherited disorder in which the body is unable to reuse or recycle biotin. If left untreated the disorder will lead to hearing loss, seizures, loss of vision and serious problems with movement and balance.


Galactosemia (GALT) is a disorder that affects how the body processes a simple sugar called galactose. It leads to inability to use galactose to produce energy. If not treated immediately with a low galactose diet, life threatening complications appear within a few days after birth.


Speaking on the occasion Dr. Saurabh Dani, an Obstetrician & Gynecologist from Ankur Hospital, Mumbai said “Newborn Screening has been proved to be a very effective public health program in several countries and just second to the popular immunisation program. India has yet to realise its full potential benefits.”.


Mr. Vikas Bhatia, a parent who has lost three children to IEM says “Babies with disorders like IEMs are treated like gone cases and nothing is done about it. The fact is that 20 out of 100 could have been saved with Newborn Screening and modified diets, and for those 80 cases that are beyond any treatment, parents can at least be informed of the diagnosis so they can think on the lines of prenatal diagnosis for future pregnancies”.


Problems associated with Newborn Screening are:

· Parental lack of awareness about its benefits. Unlike Western countries, it is not a mandated test so parents in India have to request the test,


· Counselling by gynecologists and pediatricians is required to educate the parents before delivery and this practice is not widespread except in leading birthing hospitals across the country.


· Reliable testing laboratories and accurate results.


Dr. Rohit Cariappa from NeoGen Labs says “Newborn screening for treatable metabolic disorders is coming of age in the private healthcare sector in India. The formation of parent advocacy groups and relaxation of import restrictions on special formula diets is likely to spur better treatment options and outcomes for affected newborns”.


This symposium is an effort to inform, educate and share experiences to understand the benefits of screening. It is a small step in a long journey to realize universal screening in India. Hence, Benefits of blood drops for infant screening are measured.






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