Category : Neonatology
Newborn Screening: A Lifesaving First Step
Before the 1960s, things were different, even though newborn screening is now required and babies are checked shortly after delivery. Due to underlying illnesses that took longer to manifest, babies would frequently pass just a few days or weeks after birth. As time went on, medical professionals and researchers came to the conclusion that early detection of illnesses and conditions could reduce the newborn mortality rate. In order to evaluate neonates for serious, uncommon, but treatable illnesses, newborn screening was developed in the 1960s. The examinations are carried out with the assistance of a heart screening, hearing test, and blood test.
- Pulse oximetry: Checks for serious congenital cardiac abnormalities by measuring blood oxygen levels.
- Hearing test: Assist identify early indicators of hearing loss by determining whether your baby’s hearing is normal.
- Heel Prick Test: To check for hormonal, genetic, or metabolic disorders, a little sample of blood is drawn from your baby’s heel.
For the early detection of inborn errors of metabolism (IEM), where prompt intervention can lower morbidity and death, newborn screening (NBS) is a crucial public health program. In India, NBS is not widely utilized because of low socioeconomic status, a lack of awareness and knowledge.
Newborn screening: what is it?
As part of a public health initiative, newborns are screened for dangerous but treatable diseases as soon as they are born. The majority of testing take place in the first 24 to 48 hours of life and can identify metabolic, hormonal, and genetic conditions that aren’t usually obvious right away. Even though it’s a minor action typically only a heel prick to draw a few drops of blood it can have a significant impact.
Behind the Scenes of Newborn Screening
You might be wondering: what happens to those few drops of blood after the heel prick. After collection:
- The blood sample is sent to a state or regional lab.
- Specialized machines screen for dozens of rare conditions.
- If something unusual is found, the lab contacts your baby’s healthcare provider for follow-up testing.
- Most babies get a clean bill of health but for the small number who need early care, this process is a lifesaving intervention.
Why do we need?
Many of the disorders that are checked for during newborn screening don’t immediately manifest symptoms. These can cause serious health issues, developmental delays, or even death if they are not
discovered in time.
Examples of conditions that are frequently checked are:
- If phenylketonuria (PKU) is not treated with a particular diet, it may result in brain damage.
It is a rare inherited metabolic condition in which the body is unable to break down the amino acid phenylalanine, which is abundant in protein-rich diets. Without treatment, phenylalanine accumulates in the blood and brain, causing severe intellectual disability, behavioral issues, seizures, and developmental delays. However, with early detection and proper dietary treatment, children with PKU can grow up healthy and thrive. - If left untreated, congenital hypothyroidism can result in intellectual impairment.
Congenital hypothyroidism is a disorder in which a baby’s thyroid gland produces insufficient thyroid hormone, which is required for growth and brain development. Without enough thyroid hormone, a baby’s metabolism slows, affecting brain development, growth, and energy levels. But there’s good news: when discovered early, it’s readily treated with daily medicine, and babies grow normally. - Cystic Fibrosis: Life expectancy and lung function are enhanced by early therapy.
Cystic Fibrosis is a hereditary condition that mostly affects the lungs and digestive tract. It causes the body to generate thick, sticky mucus, which can clog the lungs and trigger life-threatening infections. It also blocks the pancreas, making it difficult to absorb nutrients from food. It is a lifelong condition, but with early intervention and modern care, many people with CF can live until maturity and beyond. - Serious infections and consequences from sickle cell disease can be avoided with early treatment.
Sickle Cell Disease (SCD) is a severe genetic blood condition that alters the form and function of red blood cells. It can be fatal if not diagnosed and treated promptly. However, thanks to newborn screening, newborns with SCD can be detected at birth and get life-saving therapy right away. Sickle Cell Disease is a genetic illness in which red blood cells, which are ordinarily round and flexible, change shape into a crescent or sickle. The sickle-shaped cells:- Are less flexible, resulting in obstructions in blood flow.
- Break apart readily, causing persistent anemia.
- Can result in severe pain, infections, organ damage, and stroke.
- Severe Combined Immunodeficiency (SCID), known as “bubble boy disease,” early treatment is critical to survival.
SCID is a collection of rare, inherited immune system illnesses that result in a highly compromised immune system. Babies born with SCID are especially susceptible to infections; even moderate viruses that would not harm a healthy baby can be fatal. SCID is characterized by the absence or dysfunction of both T cells and B cells, resulting in a lack of defense against bacteria, viruses, and fungi. Without therapy, most newborns do not live beyond infancy.
A Universal Lifeline
Newborn screening is provided to all babies, regardless of background, in several nations. This helps families avoid the grief of a preventable tragedy and guarantees healthcare equity. Region specific screening panels vary and some parents might not be aware of what’s included or why it matters. Awareness is therefore essential.
What Parents Should Know?
- Inquire about your child’s screening: Be aware of the requirements and the completion date.
- If results are abnormal: it’s important to follow up right away because it doesn’t necessarily mean your kid is ill, but it does indicate that additional testing is required.
- Recognize your rights: In certain locations, you might have to request more tests or provide your approval.
Raising Awareness, preserving Lives
Newborn screening provides early diagnosis for thousands of babies each year. However, not every family is aware of its significance or even that it took place.
One way you may help spread the word:
- Share your experience with other parents.
- Encourage newborn screening initiatives and policies.
- Discuss with your healthcare provider the local options.
In conclusion
A few drops of blood, a few minutes of testing a lifetime of impact. Newborn screening is one of the most successful public health projects, but it only works if it is implemented and understood. Let us keep our newest tiny ones safe, one test at a time.
Manju H C
Tutor
Department of Medical Genetics
JSS Medical College & Hospital
JSS Academy of Higher Education and Research
Mysuru