Importance of new born screening parents must know

Importance of new born screening parents must know

The arrival of new baby is a thrilling and life changing experience for all parents. The parent wants their child to be healthy and safe and after the baby is born. It is not only the infectious disease that can affect the child but the baby should also be screened for inborn errors of metabolism.

Inborn errors of metabolism (IEM) are genetic conditions that block metabolic pathways involved in the breakdown of nutrients and the generation of energy. Perturbation of these metabolic pathways results in a spectrum of clinical findings affecting multiple organ systems. The diagnosis of IEM is challenging because the clinical presentation is often nonspecific; however, more IEM are now included in recommended newborn screening, which helps for early diagnosis.

Newborn screening is one vital step that parents must take to find out any underlying Inborn Error of Metabolism that the baby might be having. Newborn screening (NBS) is the process by which newborns are screened within 48 hrs to 72 hrs after birth for the disorders that can cause severe illness or death unless detected and treated early. Newborn screening is done with the heel prick on the filter paper which are called Dried Blood Spots (DBS) and the treatment is started either by the avoidance of the nutrient which can cause the accumulation of the metabolite or by clearing off the metabolite by converting into another form, or by substituting the metabolite/enzyme which is deficient.

There is a suspicion of high incidence of inborn errors of metabolism in India due to high prevalence of consanguinity in our country. If undiagnosed and untreated, many children develop mental retardation, learning disabilities, autism, dyslexia, behavioural abnormalities, later in life. Currently available scientific evidence from world-wide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life changing and even lifesaving.

Basic Newborn Screening includes:

Sl. No Disorder Test Name
1 Congenital Hypothyroidism Neonatal TSH
2 Glucose-6-Phosphate dehydydrogenase deficiency G6PD activity
3 Congenital Adrenal Hyperplasia 17 Hydroxy progesterone
4 Galactosemia Total Galactose
5 Biotinidase deficiency Biotinidase activity
6 Phenylketonuria Neonatal Phenylalanine
7 Cystic Fibrosis Neonatal Immunoreactive Trypsinogen
8 Hemoglobinopathies

Extended Panel includes the Basic 7 or 5 plus the 12 Amino acids and 20 Acyl Carnitines which helps to screen out the disorders of Amino acid metabolism, Fatty acid oxidation defects and Organic acid disorders.

Earlier the diagnosis, Earlier the treatment we can offer better living for the Child with Inborn error of metabolism. The IEMS are not rare but because they have not been detected by screening, we see the incidence to be low.

Dr Akshata Raviraj Gondkar

Consulatnt Biochemist for Division of Newborn Screening & Biochemical Genetics, Department of Mass Spectrometry, Neuberg Anand Reference Laboratory

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