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Importance Of Newborn Screening
Every day, babies are born with both visible and invisible birth defects. About 4 % of the population in India is mentally retarded and 5-15% of sick newborns are thought to have a metabolic problem. Early and pre-symptomatic detection by newborn screening is the key to managing these metabolic disorders and is an important investment to ensure a healthy society for tomorrow.
Newborn screening is a WHO advocated preventive health policy. It is mandated for all new- borns before discharge in many countries across the globe including USA, UK, Australia and Germany and now in many parts of India. Orbito Asia Diagnostics’ NBS with Genetic Reflex is a simple, reliable, and cost effective Newborn Screening test performed shortly after birth to screen for a group of life-threatening genetic disorders known as Inborn Errors of Metabolism (IEMs) followed by molecular diagnostic reflex testing to confirm the positive outcome of screening.
What are IEM?
Inborn Errors of Metabolism (IEM) are congenital
metabolic conditions due to variants or changes in genes, resulting in enzyme deficiencies. When there is a deficiency of a specific enzyme, the metabolic process gets deterred, leading to:
- Physical Disability
- Behavioural Problems
- Developmental Delay
- Convulsions
- Mental Retardations
- Sudden Death of Child
OrbitoAsia Diagnostics Genetic Counselling Care
Genetic counseling is an interactive session that explains the occurrence or risk of recurrence of a genetic disorder in a patient or family. A counsellor can help individuals find peace of mind or reduce concerns and worries by providing the right balance of information about their test results. They will lay out all the options, treatments and explain any risks besides answering all your questions.
Genetic counsellors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Orbito Asia Diagnostics’ genetic clinic offers extended support of care to all patients opting for Orbito Asia Genetic Tests.
Why use the services of a genetic counsellor?
A typical counselling session with parents of a patient who has tested positive for NBS-Genetic Reflex Test includes:
- The consequences of the disorder and how it will affect the life of the individual
- The actual nature of the disorder (the course a disease from its onset till its eventual treatment or complete recovery or death)
- The probability of developing the condition and/or transmitting it to their offspring
- Treatments and disease-management plans/ strategies in consultation with the referring physician
RightPath Basic Package
RightPath Comprehensive Package
Our Comprehensive Hemoglobinopathy Package
The new “Comprehensive Hemoglobinopathy Package” involves confirmation of positive hema- tological screening result through complete HBB gene sequencing for couples, fetus and affected child. The test helps physicians with definitive diagnosis for Thalassemia and Sickle Cell Anaemia:
FRAGILE X
X-Linked Dominant genetic disease which affects the nervous system, by affecting synapses. Male more severely affected. Delayed speech development by age of 2,intellectual disability, more in males. Anxiety, autism, ADD, Rare seizures. The benefits of early diagnosis of Fragile X includes improved clinical management, identifica- tion of other carriers through cascade testing, initiation of effective behavioural therapy. Genetic testing is done looking at FMR1 gene.
SCID DISEASE
Severe combined immunodeficiency (SCID) represents a group of rare inherited , sometimes fatal, congenital disorders characterized by little or no immune response patients affected with SCID are highly susceptible to severe and recurrent infections and do not survive infancy unless provided with immune reconstituting treatments Newborn screening test for SCID could afford early diagnostic confirmation and initiation of care and treatment and help prevent morbidity and death. The prognosis of successful hematopoietic stem cell transplantation for SCID is excellent if patients are diagnosed early in life and transplanted prior to 3.5 months of age. Genetic testing is done looking at IL2RG gene which is known to cause X-SCID.
SMA DISEASE
Most fatal genetic diseases affecting children under the age of 2. The disease directly affecting the damage of the nerve cells in the spinal cord that controls body’s muscles. This increases muscle weak- ness leading to paralysis and death. Timing of diagnosis is critical in SMA,diagnostic delays can involve expensive and, ultimately, unnecessary testing until patients arrive at a correct SMA diagnosis. More importantly, a delayed diagnosis may result in a missed opportunity for optimal early intervention for SMA. Genetic Testing is done looking at the gene SMN1 and SMN2 to confirm SMA
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Frequently asked questions
Find answers to your lab service questions in our FAQ section
Newborn screening is a set of tests performed on a baby within the first few days of life to detect serious, but treatable, medical conditions. These conditions may not be apparent at birth but can have severe consequences if not identified early. Early detection through newborn screening allows for timely intervention and treatment, significantly improving outcomes.
The process typically involves a small blood sample taken from the baby's heel. This sample is then analyzed in our state-of-the-art laboratories to check for the presence of specific markers associated with various health conditions. Results are communicated to healthcare providers, ensuring prompt action if any concerns are identified.
Orbito Asia utilizes advanced technology and follows stringent quality control measures to ensure accurate and reliable results. However, no test is perfect, and false positives or negatives can occur. In the event of an abnormal result, further diagnostic testing may be recommended to confirm or rule out a potential condition.
If a screening result suggests a potential health concern, our team will work closely with healthcare providers to ensure a prompt and appropriate follow-up plan. This may involve additional testing, consultations with specialists, or other necessary interventions.
Orbito Asia provides comprehensive newborn screening services, including tests for metabolic disorders, genetic conditions, and other congenital abnormalities. Our advanced screening panels are designed to identify potential health concerns in the earliest stages of life.
Newborn screening is usually performed within the first 24 to 48 hours after birth. Early testing allows for the timely detection of potential health issues, enabling healthcare providers to implement necessary interventions promptly.
Results are typically communicated to the healthcare provider who ordered the screening. The healthcare provider will then discuss the results with the parents and, if necessary, coordinate any follow-up care or additional testing.
Certainly! For more detailed information about Orbito Asia's newborn screening services, please visit our Newborn Screening Services page or reach out to our customer service team at info@orbitoasia.com.
