All you need to know About Newborn Health, Screening

  •   Mon, Jul 25 2022
  •   By Dr Leslie Edward S Lewis

July 25, 2022

Inborn errors of metabolism are a spectrum of rare disorders which manifest in neonates and early childhood.

A disease or disorder is rare when it affects less than 1 in 2500 individuals. World Health Organization (WHO) defines a rare disease as often debilitating lifelong illness or disorder with a prevalence of 1 or less per 1000 populations. The total number of people with a rare disease is estimated to be approximately 300 million worldwide and 72% of rare diseases are genetic out of which 70% start in childhood.

Inborn errors of metabolism are a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are defects of single genes that code for enzymes that facilitate the conversion of various substances (substrates) into others (products). In most disorders, problems arise due to the accumulation of toxic substances, or interferences with normal functioning, or reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders.

There are more than 500 inherited metabolic diseases known today. Traditionally, inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.

Early diagnosis of rare diseases is a challenge due to multiple factors, including lack of awareness among the public (even among healthcare providers), low accessibility to healthcare facilities, and inadequate screening and diagnostic facilities. Hence, most of the inborn errors of metabolism cases are diagnosed very late (after life-threatening or irreversible damage has been done) or remain even undiagnosed and result in unexplained neonatal/ infant deaths or permanent deficits.

Symptoms: The common symptoms involve unintended weight loss, or a failure to gain weight, tiredness and lack of energy, hypoglycaemia or low blood sugar, poor feeding habits, stomach problems or vomiting, high levels of acid or ammonia in the blood, abnormal liver function, developmental delays, mental retardation in babies and children, and convulsions.

Few of the disorders can be picked up early through Newborn screening.

What is newborn screening?

This kind of blood test is performed to detect inherited metabolic/genetic disorders. The newborn screening usually includes a panel of tests that screen for inborn metabolic/genetic disorders most common or prevalent in a particular geographical area. If symptomatically or clinically indicated, screening for other geographically rarely identified disorders are also carried out based on the requirement of a particular baby, however, the routine newborn screening does not cover these extremely rarely identified spectrum of disorders.

Example to this list is congenital hypothyroidism, most prevalent endocrine disorder. If we detect this at birth through one drop of blood by heel prick we can prevent the mental retardation in vulnerable groups.

Why newborn screening must be done?

To detect disorders before symptoms appear and to treat and prevent long term and irreversible neurological and developmental damages.

Newborn screening panel in Kasturba Hospital, Manipal

The newborn screening panel of Kasturba Hospital, Manipal, screens for commonly picked up IEMs of Karavali region which includes Congenital Hypothyroidism, Congenital Adrenal Hyperplasia (CAH), Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, Galactosemia, Phenylketonuria, Biotinidase Deficiency, Maple Syrup Urine Disease (MSUD) in neonatal blood.

How is newborn screening done?

• Using a few drops of blood from baby’s heel on special paper
• Ideal time to screen is 48-72 hours

What is done if the Newborn screen result is positive?

If a baby shows positive test results for any of the disorders screened in newborn screening, immediate precautionary measures are instituted to prevent damage and additional confirmatory tests are carried out to confirm the diagnosis.

What are the Treatment options available for these IEMs?

Treatment for metabolic disorders depends on the specific condition. Common treatments include:

• Changes to diet and lifestyle: Avoid certain foods that the body cannot handle and break down.
• Medicines: Medicines may be used to control specific symptoms, help feel better, and avoid life-threatening emergencies.
• Enzyme replacement therapy: Injections of a missing or low enzyme may help treat specific disorders.

A healthy newborn is every parent’s dream as well as the pillar of our future. Ensuring each new-born overall well-being by screening for rarely identified metabolic diseases is crucial to secure their health and provide each of them with the best possible quality of life (irrespective of the IMDs afflicting them). However, a lot remains to be done in this area in terms of raising awareness among the parents and primary caregivers of the baby, accessibility to medical screening facilities, affordability of the screening, and confirmatory tests, therapeutic approaches, destigmatization of the society toward “special child” and appropriate counselling to ensure regular follow up and compliance to treatment. Healthcare has made huge progress in the last few decades. We would surely achieve our goal of “screening, securing and offering the best possible care to every neonate” which is the concerted efforts of all the stakeholders.

We once again emphasise the importance of getting every new-born screened for geographically prevalent IEMs at birth because after all “Each baby, each life is precious”.

 

For Feedback and queries, please send an email to: marketing.kh@manipal.edu or call +91 820 2922686.


Health Tips by Kasturba Hospital, Manipal
Pediatric Oncology: https://daijiworld.com/chan/exclusiveDisplay?articlesID=5817
Scoliosis: https://daijiworld.com/chan/exclusiveDisplay?articlesID=5776
Epilepsy Surgery: https://daijiworld.com/chan/exclusiveDisplay?articlesID=5702
The Older Woman & Infertility: Hope for them - https://daijiworld.com/chan/exclusiveDisplay?articlesID=5652

 

 
By Dr Leslie Edward S Lewis
Dr Leslie Edward S Lewis, Professor & Head, Coordinator, Centre For Excellence In Inborn Errors of Metabolism, Department of Paediatrics, Kasturba Medical College and Hospital, Manipal, Manipal Academy of Higher Education, Manipal.
To submit your article / poem / short story to Daijiworld, please email it to news@daijiworld.com mentioning 'Article/poem submission for daijiworld' in the subject line. Please note the following:

  • The article / poem / short story should be original and previously unpublished in other websites except in the personal blog of the author. We will cross-check the originality of the article, and if found to be copied from another source in whole or in parts without appropriate acknowledgment, the submission will be rejected.
  • The author of the poem / article / short story should include a brief self-introduction limited to 500 characters and his/her recent picture (optional). Pictures relevant to the article may also be sent (optional), provided they are not bound by copyright. Travelogues should be sent along with relevant pictures not sourced from the Internet. Travelogues without relevant pictures will be rejected.
  • In case of a short story / article, the write-up should be at least one-and-a-half pages in word document in Times New Roman font 12 (or, about 700-800 words). Contributors are requested to keep their write-ups limited to a maximum of four pages. Longer write-ups may be sent in parts to publish in installments. Each installment should be sent within a week of the previous installment. A single poem sent for publication should be at least 3/4th of a page in length. Multiple short poems may be submitted for single publication.
  • All submissions should be in Microsoft Word format or text file. Pictures should not be larger than 1000 pixels in width, and of good resolution. Pictures should be attached separately in the mail and may be numbered if the author wants them to be placed in order.
  • Submission of the article / poem / short story does not automatically entail that it would be published. Daijiworld editors will examine each submission and decide on its acceptance/rejection purely based on merit.
  • Daijiworld reserves the right to edit the submission if necessary for grammar and spelling, without compromising on the author's tone and message.
  • Daijiworld reserves the right to reject submissions without prior notice. Mails/calls on the status of the submission will not be entertained. Contributors are requested to be patient.
  • The article / poem / short story should not be targeted directly or indirectly at any individual/group/community. Daijiworld will not assume responsibility for factual errors in the submission.
  • Once accepted, the article / poem / short story will be published as and when we have space. Publication may take up to four weeks from the date of submission of the write-up, depending on the number of submissions we receive. No author will be published twice in succession or twice within a fortnight.
  • Time-bound articles (example, on Mother's Day) should be sent at least a week in advance. Please specify the occasion as well as the date on which you would like it published while sending the write-up.

Comment on this article

  • Dony Lewis, Katapady.

    Sat, Jul 30 2022

    Good article Doctor Leslie! Lot of medical information on new borns. Much appreciated for sharing the medical knowledge with the common people like us. Keep up your good service to the society.

  • Alex Lewis, Kallianpur, Dubai

    Fri, Jul 29 2022

    Very informative article, Thank you dear Dr. Leslie.

  • Rudolf Rodrigues, Mumbai

    Tue, Jul 26 2022

    Very informative article! BTW, does "acute encephalitis syndrome" which causes mysterious deaths in smaller malnourished children in litchi growing areas of Bihar fall in the same category?

  • Ben D'Souza Prabhu, Mangalore, Bombay Bandra now in Canada

    Mon, Jul 25 2022

    Thank you Very Much for your learned expert Guidance for all of us ! We are Happy that we too have experts with us whenever we need some Help ! THANK YOU DEAR DR LESLIE EDWARD S LEWIS !!!


Leave a Comment

Title: All you need to know About Newborn Health, Screening



You have 2000 characters left.

Disclaimer:

Please write your correct name and email address. Kindly do not post any personal, abusive, defamatory, infringing, obscene, indecent, discriminatory or unlawful or similar comments. Daijiworld.com will not be responsible for any defamatory message posted under this article.

Please note that sending false messages to insult, defame, intimidate, mislead or deceive people or to intentionally cause public disorder is punishable under law. It is obligatory on Daijiworld to provide the IP address and other details of senders of such comments, to the authority concerned upon request.

Hence, sending offensive comments using daijiworld will be purely at your own risk, and in no way will Daijiworld.com be held responsible.