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Of course the screening by urine test is very important when it comes to genetic disorders. It screens more than 100 rare metabolic disorders. These diseases are not visible to doctor also at birth. Its when the baby starts using its own metabolism it falls sick... this is because at birth the screening was not done at birth..
You know as a mother, the first thing that comes to my mind is a big NO. The simple reason being that I would be apprehensive about the accuracy of the results and the wait of retesting. But then from the practical point of view, I think screening at birth is a good thing. If there is a person in the family suffering from any disorder, then there is every reason that one should do the test. Even otherwise doing a screening at birth would give you tremendous peace of mind and help you plan the future of your baby better. It would also mean that if the results came out positive, your planning of the future would involve the correct treatment for your baby without causing any delay in time. Also nowadays the test is a simple urine sample and hence does not cause any pain to the baby.
What else can I help you with?
What is the comprehensive panel metabolic screening for newborn babies?
Comprehensive panel metabolic screening is done on newborn babies to test for genetic disorders from birth. The panel comprises of many rare metabolic disorders which individually might occure very rare but when seen collectively the occurrence increase many fold. There are more than 100 metabolic disorders which can be detected in a newborn urine sample.
Why are newborns tested for metabolic disorders?
Metabolic disorders are rare disorders routinely tested for in a newborn baby. It is always better to know the presence of these diseases before hand and not after it the child starts showing symptoms for it. To avoid unnecessary suffering to the baby this test is done before for as many as 100 disorders. The disease manifests in many ways , it can also lead to mental retardation in your baby. Metabolic disorders can be screened as early as after 48hrs of birth of that baby. Metabolic disorders lead to irreversible mental damage. Screening for disorders will help in early intervention of therapy and will give a better life to that baby. Nowadays there are screening done from urine sample and for a large range of metabolic disorders.
Are genetic metabolic disorders preventable. Why to screen them at birth?
When it comes to genetic metabolic disorders early detection is the prevention of disease manifestation. You can not prevent a genetic disorder from occurring. Screening at birth by painless urine test can prevent the disease from harming the baby. Metabolic disorders are due to a defect in metabolic pathway as the enzyme catalyzing is defective due to a defect in a gene coding it. This situation can not be corrected but can be effectively managed by diet modifications and special foods. Genetic metabolic disorders are not preventable as they are defective gene that are passed from the parents to their offspring, that why screening at birth for these disorders become important. The parents just carry these genes without showing any signs of the disorders which then becomes evident in the baby after birth. Screening through urine sample for more than 100 metabolic disorders is gaining popularity, which is baby friendly rather than pricking them at the heel. Management of these disorders after screening will help in preventing any irreversible damage to the baby. After about 6 months of my baby's birth, my baby started becoming lethargic and less enthusiastic about feeding or even playing. She only slept all the times. Initially, I did not get too concerned about it, as most babies sleep all the time, but then when I showed her to the ped., he immediately asked me to do a metabolic urine test for 100 disorders, which showed positive and then only after modified diet, did my baby start to thrive. If I had known of this test before and that it could be done at birth, I would have not lost so much of time. While my baby is doing well now, I will always regret the fact that I did not do the urine test at birth. While metabolic disorders are not preventible, doing the simple urine test at birth can save a lot of time and pain for the health of the child.
Is newborn screening really necessary?
newborn screening is done in babies to detect for any birth defects.. its better to take preventive measures than to regret later, because babies who have any birth defects and the babies who do not have look same at birth, it is only when the symptoms appears one can come to know about the disease but that sometimes may be too late for the treatment and that often leads to death of infants, which can be avoided if newborn screening is done at the time of birth.
Can new born baby screening test be done after one month of delivery?
Screening for what? They pull blood for screening at the time of the birth.
Why is there a need of Newborn screening?
Newborn Screening is done primarily to detect congenital diseases right at birth so that the treatment can be started right as soon as possible. Baby usually looks normal but as it grows develops problems. Usually lot of congenital metabolic disorders present this way as when the baby grows the signs n symptoms appear when the baby's metabolic process starts working. These disorders are very rare but when seen collectively they make a significant chunk of disease. So management of these disorders become very important to lower the infant mortality rate. Diagnosis is very simple by a urine test which can detect more than 100 metabolic disorders. Test results are usually diagnostic and ensures an early start of the treatment.
What and who does metabolic birth defect affect?
the baby and the mother
What disease is genetically screened for immediately after birth in the Us?
Newborn Screening
When does genetic screening take place?
Genetic screening can take place at most any time. Tests on unborns are not uncommon and are used to look for genetic defects. And adults can be screened for specific genetic anomalies so that the information can be used to make decisions about what may or may not be passed on to children. choose certain things about your child.
Are metabolic disorders hereditary. Can I pass them to my baby?
Metabolic disorders also known as Inborn Errors of Metabolism are due to defect in genes which code for enzymes required for metabolizing food components like carbohydrates, fats and proteins. A person can get defective genes in 2 ways either they are passed on from parents to them or any spontaneous mutation in the chromosome at the time of cell division in the embryonic stage. In either of the cases the individual will suffer from Metabolic disorder. A parent has 2 copies of gene and each parent pass one copy to their child. If the parent passes the defective copy to their child, then the child would develop IEM. So, it is not always possible to pass the defect to your child. Screening at birth by newborn screening for IEM by urine test can diagnose more than 100 metabolic disorders.
Why do people have diseases?
we get diseases by different diseases causing bacteria and viruses .
Do baby raccoons carry diseases?
No, new born raccoons do not normally carry diseases but they can contract diseases from the mother after birth.
