Newborn Screening

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Comments:

Name: Dr. Saurabh Dani
Country: India
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.

Name: Rishi.Dixit
Country: India
Dear Avinash/Dr Dani 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 itâ€™s not subsidized by the government

Name: DrSaurabhDani
Country: India
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.

Name: Quidsia Fatima
Country: India
Sounds quite a useful thing for baby wellbeing in life

Name: Avinash
Country: India
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.

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What parents are discussing...

Have you screened your newborn for any disorders? Do you think newborn screening is necessary? Do you think it should be made mandatory?

vikas

i got to know abt it recently and got it done for my niece who is 7 months old. her urine sample was collcted on specialized filter papers and was sent to lab, received report in just 3 days time....

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mohammad

Mr vikram, there more than 100 disorders which can be diagnosed at present using simple test. and these disorders are very rare. in my family we had no history of genetic sort of abnormality or condit...

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Mahima

Very sorry for loss of your child. was browsing once on newborn screening and found people engaged actively in facebook promoting newborn screening. perhaps u can share ur ideas so that a life is sav...

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