Newborn Screening, or NBS as it is commonly called, is the process of screening newborn babies for metabolic disorders, genetic diseases, blood diseases etc. It has been around since 1960 in the Unites States but it is still a new concept in India. It involves checking for a large number of diseases at the time of birth so that some sort of preventive measures can be applied. Though it is not possible all to cure all such diseases yet, early detection is useful at curtailing a wide range of diseases. Lets see how Newborn Screening can benefit your baby. In this articleWhat is Newborn Screening?How is Newborn Screening done?Why is Newborn Screening Important?Newborn Screening in India What is Newborn Screening? Newborn Screening refers to tests carried out on a newborn babys blood to detect Inborn Errors of Metabolism (IEMs). These tests cover a wide variety of diseases and help in preventing future issues. Early detection may, in some cases, even suppress a disorder entirely. For example, congenital hypothyroidism, which is a very common disorder in India, can be prevented by neonatal screening. Newborn screening is also effective at tackling diseases like Maple Syrup Urine disease, Congenital Adrenal Hyperplasia, Glucose-6-Phosphate Dehydrogenase Deficiency, Phenylketonuria, Galactosemia, mental retardation, etc. How is Newborn Screening done? Screening of newborns is most effective during the neonatal period, which is why the blood sample is taken shortly after birth. Newborn screening is carried out by taking a few drops of blood from the babys heel 24 to 48 hours after birth. This blood is then tested using advanced methods (like tandem mass spectrometry or MS/MS) and disorders, if any, are identified. Normally, if there are irregularities in the initial screening test, the blood is sent for further tests. Full reports are then submitted either to the babys pediatrician or the parents. Based on the reports, the baby can be treated and the family counseled. Why is Newborn Screening Important? Early knowledge about a condition can help you in keeping the child safe or suppressing the symptoms. Some conditions, unless detected on time, can be fatal for the baby. Timely detection of certain disorders can also prevent mental retardation or a lifelong impairment. Also, if the condition detected is not immediately dangerous, parents can take measures to ensure that the condition is not aggravated in the future, by say, antibiotics or any allergen. Mental retardation and physical disability can also be avoided, in many cases, by newborn screening. While it is rare to actually have a metabolic disorder, testing on time can save parents a lot of trouble in case the disease surfaces at a later point of time. Also, healthy parents can also be carriers of genetic disorders. A quick screening process can ensure that the disorder will not suddenly surface and affect the babys health. It is also possible that a seemingly-healthy baby could have a disease. Newborn screening ensures that such suppressed diseases are detected. Newborn Screening in India Many countries across the world have made newborn screening mandatory. Most Indian hospitals, though equipped with adequate technology, are yet to offer this option to their customers. This situation is slowly changing as awareness of newborn screening increases in India. A few pathology labs offer customers newborn screening packages, where they have to send the blood sample to the lab directly after taking the blood sample from the baby. Newborn screening may be an expensive proposition today but this scenario can change if the government makes efforts to make it mandatory. As most countries in the US, EU and some parts of Asia have already made it compulsory, the costs have also dropped in those countries. If a similar program is adopted in India, many lives can be saved. Even though screening a baby for disorders is personal choice, it is better to screen a newborn than to risk expensive treatment at a later point of time. It saves both baby and parents a lot of unnecessary trouble.
Newborn Screening, or NBS as it is commonly called, is the process of screening newborn babies for metabolic disorders, genetic diseases, blood diseases etc. It has been around since 1960 in the Unites States but it is still a new concept in India. It involves checking for a large number of diseases at the time of birth so that some sort of preventive measures can be applied. Though it is not possible all to cure all such diseases yet, early detection is useful at curtailing a wide range of diseases. Let's see how Newborn Screening can benefit your baby.
Newborn Screening refers to tests carried out on a newborn baby's blood to detect Inborn Errors of Metabolism (IEMs). These tests cover a wide variety of diseases and help in preventing future issues. Early detection may, in some cases, even suppress a disorder entirely. For example, congenital hypothyroidism, which is a very common disorder in India, can be prevented by neonatal screening. Newborn screening is also effective at tackling diseases like Maple Syrup Urine disease, Congenital Adrenal Hyperplasia, Glucose-6-Phosphate Dehydrogenase Deficiency, Phenylketonuria, Galactosemia, mental retardation, etc.
How is Newborn Screening done?
Screening of newborns is most effective during the neonatal period, which is why the blood sample is taken shortly after birth. Newborn screening is carried out by taking a few drops of blood from the baby's heel 24 to 48 hours after birth. This blood is then tested using advanced methods (like tandem mass spectrometry or MS/MS) and disorders, if any, are identified. Normally, if there are irregularities in the initial screening test, the blood is sent for further tests. Full reports are then submitted either to the baby's pediatrician or the parents. Based on the reports, the baby can be treated and the family counseled.
Why is Newborn Screening Important?
Early knowledge about a condition can help you in keeping the child safe or suppressing the symptoms. Some conditions, unless detected on time, can be fatal for the baby. Timely detection of certain disorders can also prevent mental retardation or a lifelong impairment. Also, if the condition detected is not immediately dangerous, parents can take measures to ensure that the condition is not aggravated in the future, by say, antibiotics or any allergen. Mental retardation and physical disability can also be avoided, in many cases, by newborn screening. While it is rare to actually have a metabolic disorder, testing on time can save parents a lot of trouble in case the disease surfaces at a later point of time. Also, healthy parents can also be carriers of genetic disorders. A quick screening process can ensure that the disorder will not suddenly surface and affect the baby's health. It is also possible that a seemingly-healthy baby could have a disease. Newborn screening ensures that such suppressed diseases are detected.
Newborn Screening in India
Many countries across the world have made newborn screening mandatory. Most Indian hospitals, though equipped with adequate technology, are yet to offer this option to their customers. This situation is slowly changing as awareness of newborn screening increases in India. A few pathology labs offer customers newborn screening packages, where they have to send the blood sample to the lab directly after taking the blood sample from the baby. Newborn screening may be an expensive proposition today but this scenario can change if the government makes efforts to make it mandatory. As most countries in the US, EU and some parts of Asia have already made it compulsory, the costs have also dropped in those countries. If a similar program is adopted in India, many lives can be saved. Even though screening a baby for disorders is personal choice, it is better to screen a newborn than to risk expensive treatment at a later point of time. It saves both baby and parents a lot of unnecessary trouble.
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Dear Rishi,
I disagree with you on several points.
Currently we know of approx 500 metabolic disorders but knowing about each of them is not newborn Screening. Newborn Screening is screening for those disorders that are:
1. Common
2. Some form of treatment available
3. Reliable method of detection of disorder
On the basis of this criterion ACMG was asked to form a panel of such disorders and recommend how the test should be done.
After an elaborate research they included 54 disorders of all. The rest were currently ignored as they did not fit the criterion at the moment.
The 54 include a few Fatty Acid Oxidation Disorders, a few Organic Acid Disorders, a few Amino Acid Disorders, a few Hormonal Essays, Haemoglobinopathies and Hearing.
Anything more is not appropriate at this time and would be reviewed later.
The method of screening recommended was Dried Blood Spot on a special 703 filter paper with heel prick using a special lancet that does not cause pain or injury to an infant.
The tests should be done using TMS, HPLC, Biochemical Essays only.
I hope you are now clear.
And for the record there is no debate on this anywhere in the world.
There has been a lot of debate recently regarding the newborn screening through blood spot vs. Urine, let me try and put things in perspective.
Unlike the situation in genomics, where the human genome is now fully sequenced and freely accessible, metabolomics is not nearly as developed.
There are approximately 2900 endogenous or common metabolites that are detectable in the human body (these are markers for some disorders or others) .
Not all of these metabolites can be found in any given tissue or biofluid (i.e. urine /blood etc). This is because different tissues/bio fluids serve different functions or have different metabolic roles.
So any Screening program which relies on the metabolite detection either in Blood or Urine would have some pros and cons.
Some metabolites and hence the disorders would only be detected through Blood and some only through urine e.g. And there would be an overlap in a majority of them
The choice of screening should depend on the following:
a. The coverage of disorders:
i. Number: The program should cover maximum number of the commonest disorders ( in that region) with a single sample
ii. Diversity: Should include diverse disorders as possible like ( organic academia, aminoacidemia, fatty acid disorders, Urea cycle, sugar metabolism etc)
b. Ease of sample collection : Not for the parent/doctor but for the baby i.e. Invasive vs. Non invasive
c. Need for follow up testing for confirmation and differential diagnosis: Pointing out the disorder is not good enough, it should also confirm and give a differential diagnosis
d. The cost: Since in India it’s not subsidized by the government
Dear Avinash,
Its nice of you to get the test done for your child for over 100 disorders but the fact is that out of 100+ they only cover 25 disorders which are recommended by American College of Medical genetics (ACMG). ACMG recommends only 54 disorder screening because only these are "Treatable" - knowing more does not make any sense.
Also I do not know any Lab in India that does more than 45 disorder screening via blood - which is the only accepted method of screening world wide.
I suggest you should also get your child screened for the remaining other deadly diseases.
I came to know that today it has become possible to screen a newborn for over one hundred genetic disorders right at time of birth. I got it done immediately for my 2 month baby. I encourage every parent to protect they baby against such disorders, even if they missed the screening while being discharged from hospital.
I came to know that today it has become possible to screen a newborn for over one hundred genetic disorders right at time of birth. I got it done immediately for my 2 month baby. I encourage every parent to protect they baby against such disorders, even if they missed the screening while being discharged from hospital.
