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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.
What else can I help you with?
What does PGD stands for?
PGD stands for Preimplantation Genetic Diagnosis. It is a reproductive technology used in conjunction with in vitro fertilization (IVF) to screen embryos for specific genetic conditions before implantation in the uterus. This process helps couples at risk of passing on genetic disorders to have healthier children.
Where is newborn screening done in India?
There are many hospitals who screen newborn for genetic disorders. Some of them do for only 2 to 3 disorders but the reputed hospitals like Fortis, Apollo Bangalore, Reliance KDAH etc will screen for more than one hundred disorder. However, if you have already missed the screening for your baby or if you want to get it done from home, you may contact one company called as Preventine life care in mumbai.
What do physician use to screen a genetic disorder?
PCR
What is a cmpg test?
A CMPG test, or Comprehensive Metabolic Panel (CMP), is a blood test that assesses various chemical components in the blood to evaluate an individual's overall metabolic health. It measures glucose, electrolytes, proteins, and waste products, providing insights into kidney and liver function, as well as metabolic processes. Healthcare providers often use it to screen for conditions like diabetes, kidney disease, and liver disorders. The results can help guide further testing and treatment decisions.
Is it ethically acceptable to screen embryos for detective genes?
The ethics of screening embryos for genetic disorders is a complex and debated issue. Some argue that it can prevent suffering and improve the health of future generations, while others raise concerns about issues such as designer babies and discrimination against individuals with genetic disorders. Ultimately, each person must carefully consider their own values and beliefs when making decisions about embryo screening.
Which is the Best way too pass a urine test?
The urinalysis is a set of screening tests that can detect some common diseases. Itmaybe used to screen for and/or help diagnose conditions such as a urinary tract infections, kidney disorders, liver problems, diabetes or other metabolic conditions, to name a few
How can you tell if you have parkinson's or huntington's disease?
Genetic screen and family history
What three studies included in the health screening process?
Blood pressure measurement to assess cardiovascular health. Cholesterol test to evaluate lipid levels and heart disease risk. Blood glucose test to screen for diabetes and metabolic disorders.
Can you give a baby a genetic screening?
you cant give a baby genetic screen, babys cells is still under growth that's why.
How are the metabolic causes of coma diagnosed?
Metabolic causes of coma are diagnosed from blood work and urinalysis to evaluate blood chemistry, drug screen, and blood cell abnormalities that may indicate infection.
What is urine based newborn genetic screening?
Newborn Babies are screened for congenital genetic disorders at birth for more than 100 metabolic disorder by a urine test as compared to 40-50 disorder by blood test. Urine based screening is more accurate and usually gives diagnostic results. Blood test are screening test for few IEM many of which are later confirmed by urine test. Genetics screen is very important for all babies and it is done right after the birth when baby complete 48 hr,it is very safe because it only require urine sample by a painless procedure and very reliable,as i have heard the technique used is highly sensitive and gives accurate results. Blood spot screening is covers few IEM, congenital hypothyroidism, sickle cell disorders, HIV infection etc.. The limitations of sensitivity and specificity when screening such small volumes of blood restricts the use of dried blood spot. However, recent advances such as the production of monoclonal antibodies, expression of synthetic proteins, and the introduction of the polymerase chain reaction have overcome many of these problems but still to attain accuracy.
What is the most common cancer in adults?
Skin cancer is the most common type of cancer in adults followed by lung cancer. Interestingly, both of these cancers are also highly preventable by avoiding smoking and using sun screen.
