- Even healthy-looking newborns may harbor some metabolic diseases.
- Dried Blood Spot Screening is not uniformly mandatory everywhere in India.
- Early screening, follow-up and timely treatment
For every newborn, it is important to diagnose the disease while they are still looking healthy. Because some genetic metabolic diseases are not visible at all in the first few hours or days after birth. However, harmful elements may accumulate in the body or something that the body needs Dr. Important information is provided by Varsha Birla, MD DNB (Biochemistry), Regional Quality Head, Metropolis Healthcare Limited. Metabolic Disorders:
National initiatives related to child health in India have recognized the importance of early diagnosis of such diseases. However, Dried Blood Spot Screening for metabolic diseases is not uniformly mandatory across the country. So the facility may depend on the state you are in, the hospital where the baby is born and the facilities available there.
Having specific National Newborn Screening Panels for critical and treatable diseases is of public health importance. Along with this, availability of further tests, referral to specialist doctors and treatment is also essential. For the health system it is a question of equal healthcare and preventable disability. And for the baby, the time between screening and the appearance of symptoms can be an important opportunity to avoid permanent damage.
What is Metabolism?
Metabolism is a series of chemical processes that take place in the body to produce energy and nutrients from the food we eat. Many of these processes require enzymes to function properly.
In genetic metabolic diseases, a particular enzyme or transport protein in the body may be low or not working properly. Therefore, the body cannot use some components of carbohydrates, fats or proteins properly. The outcome depends on which metabolic process is disturbed and how severe it is.
Why can a baby look normal at birth?
Sometimes the problem of illness is present in the baby from birth, but it is not noticed immediately. Placenta and the mother's body Metabolism Some substances in fetal blood are regulated or eliminated from the body.
After the birth of the baby, his body has to do these tasks on its own. Therefore, the symptoms of some diseases may appear after the initiation of regular milk feeding, after the baby has been starved for some time or when the body is subjected to additional stress of infection. In such cases some abnormal substances may accumulate in the body and it may affect the brain, liver, heart or other organs.
Why is newborn screening important?
Newborn screening can help identify rare diseases such as Phenylketonuria (PKU), Galactosaemia, Maple Syrup Urine Disease, Biotinidase Deficiency and some Fatty Acid Oxidation Disorders.
In these diseases, the baby may appear completely healthy at birth and may not show any symptoms immediately. However, early diagnosis and timely treatment can help prevent or reduce serious health problems and sometimes long-term or permanent complications.
Treatment for each metabolic disease is different. Sometimes it may be necessary to avoid certain foods, give the baby a special diet or special formula, or in some cases, hormone replacement.
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If the screening report is positive, does the baby have a disease?
A screening test report outside the normal range does not necessarily mean that the baby has the disease. This means that further clinical examination and confirmatory tests are urgently needed. Sometimes the report may come back normal after further investigation.
After a particular disease is confirmed, the treatment is decided accordingly. Some illnesses only require certain foods to be avoided, while others may require special diets, special formulas, or hormone replacement.
Genetic counseling helps the family understand how the disease may be passed on genetically, what the risk may be in future pregnancies, and what genetic testing options are available.
Early diagnosis and proper treatment and care can go a long way in improving the long-term impact on a baby's health and development.
Newborn screening does not necessarily diagnose every metabolic disease and therefore requires a clinical examination by a physician. However, it is important for parents to get their newborn baby screened.
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After all, it's good that a baby looks healthy on the outside, but it doesn't tell the whole story of a baby's health. Newborn screening is an important opportunity, done with a few drops of blood, in a short amount of time, to detect some hidden diseases before they cause permanent damage. A timely diagnosis, followed by proper follow-up and treatment can make a huge difference to a baby's future.