New born Screening:
Newborn screening is the process of testing all newborn babies shortly after birth to determine the risk your baby is at for certain harmful or potentially fatal genetic disorders (metabolic or other inherited disorder commonly known as IEM or Inborn Errors of metabolism) that aren’t otherwise apparent at birth or in newborn period but are sure to affect the child in future.
It is estimated that 1 in 1,000 babies born is affected by an inherited disorder that can be detected through newborn screening.
The affected baby looks healthy at birth and these disorders cannot be diagnosed until specifically tested through Newborn screening.
Even though these conditions are considered rare and most babies screened will show no abnormality, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.
Early screening, diagnosis, and intervention within the first days of life are essential because many of these disorders are manageable if treatment begins early. Yet, if left untreated these will manifest in immediate or near future with a permanent and irreversible damage such as:
- Learning disabilities
- Physical retardation
- Mental retardation
- Language and speech disturbances
- Seizures or epilepsy
- Coma and even death…
With the advance in technology and knowledge in genetics it is now possible to diagnose more than 110 such condition in the newborns with the help of a simple urine test (Neopel Newborn screen) (blood test – heal prick blood )
What is Neopel Baby screen (NBS)
Neopel baby screen (NBS) ®, our newborn screening service and determines a baby’s risk for more than 117 inherited disorders through an easily collected urine sample or by blood sample.
1. Why does my baby need newborn screening tests?
All newborns need to be tested for several rare but serious medical conditions. Babies with these conditions may look perfectly healthy at birth. If not treated, these conditions can cause health problems such as mental retardation, slow growth, and even death. With treatment, these problems may be prevented. The test is mandatory in the Western countries for all newborns, both male & female. The purpose of NBS is to try to find babies that have these problems before they lead to an irreversible damage to mental and/or physical development of the baby; and above all, ensure that the treatment is initiated in time so that the baby may live a better and healthy life.
As most babies who have these conditions look healthy and act normally in the newborn period, NBS is the only way to diagnose these conditions.
2. We are healthy and even our family does not have a history of these disorders?
a. Most children with these disorders come from families with no previous history of the condition. Many a times, parents could be just the ‘carriers’ and are likely to pass on the disorders without being aware of the same.
b. Parents who have no family history of problems and/or who have already had healthy children can still have a child with these disorders.
3. My baby looks absolutely healthy, should I still go for screening?
a. The affected baby look healthy at birth however, there may be hidden disorders which may manifest in future, leading to irreversible damage like mental and physical retardation.
Newborn Screening allows early diagnosis of these disorders & helps prevent serious outcomes Many of these disorders are now manageable by simple dietary measures, yet when undiagnosed and untreated they have the potential to cause serious medical problems such as irreversible mental and physical retardation and in some cases even death.
b. Hence, early & accurate diagnosis of these metabolic genetic disorders is very important in determining outcome of the child.
4. My hospital has a screening program and screens for less number of disorders. Should I choose to test for these disorders?
You may opt for this expanded screening which covers a wide range of disorders i.e. disorders from maximum different group and maximum numbers in each group as well. This will ensure that your newborn is tested for all 117 disorders.
5. What happens if my child has an abnormal result?
An abnormal result may indicate the need for a second test to diagnose a condition. Further, If the condition is diagnosed, an early medical intervention will play a key role in helping the baby lead a normal life.
In case of abnormal results, we will simultaneously notify your pediatrician and yourself of the screening results. In case you do not have a monitoring pediatrician, we will put you in touch with one of our networked doctors to initiate the treatment immediately.
6. Whether the disorder will be managed
This conditions have no cures and are inherited. Many of these disorders are now manageable by simple dietary measures provided by your doctor. Yet when undiagnosed and untreated, they have the potential to cause serious medical problems such as irreversible mental and physical retardation and in some cases even death. The treatment for each condition is different. Treatment may include introduction of a special diet, hormones, and/or medications. If your baby has one of these conditions, it is very important to start the treatment as soon as possible. Research has shown that early intervention and prompt treatment has always been beneficial.
7. Is this test done in other countries ?
Newborn genetic screening is recommended by medical councils across the world and is mandatory for all babies born in the United States, UK, Germany, Japan and many other countries.
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