New Born Screening

A new baby brings plenty of joy and many unknowns and when it comes to your child’s health, any information is valuable.

While most babies are born healthy and grow up normally, sometimes its devastating to learn a few months, or years, down the road that a child has a terrible disease that could have been treated had it been diagnosed earlier.

Such babies can be born with a certain health condition which is inherited i.e. present since birth but does not show any signs of the problem at first. These are known as inherited metabolic genetic disorders (often called “inborn errors of metabolism” or IEM) which interferes with the body’s use of nutrients to maintain healthy tissues and produce energy.

It results in accumulation of substances harmful to the brain and other organ, can cause bio-chemical imbalance resulting in disturbance in all physical and intellectual functioning eventually leading to irreversible damage.

It is estimated that 1 in 1,000 babies born is affected by an inherited disorder that can be detected through newborn screening. Screening, diagnosis, and intervention within the first few days of life are essential because many of these disorders are manageable if treatment begins early.

The affected baby look healthy at birth and these disorders cannot be diagnosed until specifically tested for through Newborn screening.

What is NBS

Newborn screening is a simple test performed 48 Hrs after birth that enables early detection of serious and life-threatening conditions which may lead to mental/physical retardation or early death, thereby preventing adverse health outcomes and helping the baby lead a normal healthy life.

The affected baby looks healthy at birth but may be born with a serious medical condition called Inborn errors of Metabolism (IEM) which cannot be diagnosed until specifically tested for. If not tested and treated right after birth, it can lead to irreversible damage.

Early & accurate diagnosis of these disorders is very important in determining outcome, and hence New born genetic screening is recommended by medical councils across the world , and NBS is now compulsory (Paid for by Government) in more than 50 countries across the globe.

For its contribution to the child health NBS program has been voted as one of the

TOP TEN Great Public Health Achievements in USA in the last decade. It has saved lives of millions of babies across the world and helped them live a normal life.

Benefits of NBS

The biggest benefit of NBS is early detection of the disorders and prevention of untoward outcomes with early intervention. Early detection allows early treatment which usually involves a change in diet or medication that can help the baby live a normal life.

Highest Testing sensitivity: Disorder detection rate is 95%. (The highest in its class).

Since these metabolic disorders are not apparent at birth, it’s impossible to suspect and diagnose these disorders until they are specifically tested for through NBS.

Some of the conditions that can be diagnosed in advance and prevented are:

  • Neurological abnormalities, Mental Retardation.
  • Developmental delays and Physical Abnormalities.
  • Learning difficulties, Language and Speech difficulties.

Know MoreSome examples of metabolic disorders and how NBS can help

ConditionAdverse effectsTreatment/Management
Congenital Hypothyroidism (CH) : CH is a lack of thyroid hormones present from birth. Infants are usually clinically normal at birth, due to the presence of maternal thyroid hormonesMentally retardation, Hearing loss, Stunted growth, Speech delay and behavior problems. Damage to the brain and nerves is usually permanent and cannot be reversedSupplemented with thyroxine which is easy, inexpensive and very safe.
Inability to digest Galactose, a simple sugar found in breast milk, many infant formulas and milk products.
This condition can harm the baby’s eyes; can cause serious liver and brain damage and even deathA special milk-free diet as soon as the condition is found can prevent problems
Biotinidase Deficiency:
Lack of an enzyme called biotinidase.
Seizures, developmental delays, eczema and hearing loss.Oral supplementation of BIOTIN (sometimes called vitamin B7).


Available Option for NBS

There are 3 primary methods available for NBS based on the type of sample required to test.

Blood based screening tests ( Basic New Born screening) :

A few drops of blood is taken on a special filter paper, through a small prick on the heel of the newborn. Urine Based screening tests (Expanded New Born Screening) :

sample of the baby is collected by placing another filter paper within the baby’s diaper.

Comprehensive Screening :

Urine + Cord blood/Heel Prick blood samples This includes NBS Urine sample & Blood/cord blood sample) and is the most comprehensive and ideal NBS package available as it combines best of both the technologies and samples.  

Know More


Disorders Covered

Sample Required

Technology Used

NBS – 3

Congenital Hypothyroidism,
Congenital Adrenal
Hyperplasia & G6PD

Heel Prick Blood /
Cord Blood Spot

Biochemistry & ELISA

NBS – 4

NBS 3 + Cystic Fibrosis

Heel Prick Blood Spot

NBS – 6

NBS 3 + Galactosemia,
Biotinidase & Phenylketonuria (PKU)

Heel Prick Blood Spot

NBS – 7

NBS 4 + Galactosemia,
Biotinidase & Phenylketonuria (PKU)

Heel Prick Blood Spot

NBS 45

Covers 45 disorders
(excluding those covered in NBS 6)
1. Amino Acid profile
2. Acylcarnitine Profile

Heel Prick Blood Spot

MS-MS ( Tandem Mass Spectrometry)

NBS 110

Most comprehensive package covering 110 disorders:
1. Organic Acidemia
2. Fatty Acid oxidation disorders
3. Amino Acid Disorders
4. Sugar metabolism Defects
5. Purine, Pyrimidine Disorders
6. Peroxisomal Disorders

Urine Sample on a special filter paper provided in the Kit


NBS 31

Covers 31 disorders most
common and critical disorders
affecting the neonates
( a subset for the NBS 110)


NBS 110 + 3

Tests for disorders covered in NBS 110 + NBS 3.

Urine Sample & a Cord blood spot (Non Invasive process)

GC-MS & Biochemical Analysis

NBS 31 + 3

Tests for disorders covered in NBS 31 + NBS 3.

Urine Sample & a Cord blood spot (Non Invasive process)

GC-MS & Biochemical Analysis

 Please see the (link) Comparison of Testing Platforms:
list of disorders: urine and blood, 110 and 45

Case Studies and Reasearch Article​