Newborn screening consists of a series of blood tests to determine for any kind of genetic disorders and endocrine issues. This screening test can identify the risk of specific diseases before the occurrence of any symptoms. Quick discovery and immediate treatment will prevent severe illness, unanticipated death, mental retardation.
Newborn screening aims to identify the diagnostic tags of curable ailments in bloodstains obtained from newborns who do not show symptoms. Immediate discovery of ailments can improve the enduring prognosis of impaired patients and helps to minimize complexities. Furthermore, it also bypasses needless diagnostic testing and prenatal genetic counseling that is required by some families.
As stated by World Health Organisation, around 140 million babies are born every year around which 5 million babies are losing their lives in their first thirty days of their life. Almost 4 million babies are born with some kind of genetic abnormality. When a baby loses his life because of any mysterious cause, it is known as SIDS (Sudden Infant Death Syndrome).
It is found that around 25-30% of such babies are incapable of thriving because of any metabolic ailments. Moreover, all metabolic disorders are treatable and curable. The diagnosis must be obtained to control the complications in the best way possible by the newborn screening test.
Newborn screening test includes a panel of 7 tests namely
G6PD deficiency is a type of genetic disorder that can be often observed in males. This occurs when the human body does not have an adequate amount of enzyme termed glucose-6-phosphate dehydrogenase. This enzyme enables the red blood cells to work efficiently and safeguards them from the substances that cause harm to them.
The full form of TSH is a thyroid-stimulating hormone. This test helps to assess the thyroid hormone in the blood and is a kind of blood test. A thyroid gland that is positioned near your throat produces hormones that regulate the energy usage of the body.
Phenylalanine screening is a kind of blood test that is used to identify the indications of PKU (phenylketonuria). This test discovers the unusual levels of an amino acid termed Phenylalanine.
A blood test is used to determine the faulty gene that leads to cystic fibrosis. This test is often performed on people who are planning to start a family and have a member in the family who has cystic fibrosis.
The 17-Hydroxy Progesterone screening test is used for the determination of CAH (congenital adrenal hyperplasia) and can be done with other screening tests to aid in diagnosing and monitoring CAH. This test is mainly done for newborns to discover CAH caused because of 21-hydroxylase deficiency.
A Galactosemia test is done to look for the enzymes that are necessary to alter galactose into glucose. It is usually urine or a blood test. A person suffering from Galactosemia does not have either of these enzymes and therefore high glucose levels are established in the urine or blood.
The Biotinidase deficiency test evaluates the BTD gene that is related to Biotinidase deficiency. This screening test helps to diagnose the patients who are suspected of this deficiency because of clinical symptoms and newborn screening outcomes.
These newborn screening tests not only help in treating the newborns beforehand but also helps to reduce premature deaths in babies. This panel of tests is very important and needs to be done to identify any symptoms of disorders and any ailments.