Newborn Screening

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Various conditions that may be present at birth (congenital) can affect the health and wellness of a newborn. Most of these conditions are rare, though some are more prevalent in certain families or ethnic groups. Disorders range from difficulties processing certain nutrients (metabolic), to problems with hormones (endocrine), to the production of abnormal forms of hemoglobin, the oxygen-carrying protein in red blood cells. Some of these conditions cannot be cured, but many can be managed so that the child can grow and live a relatively normal life.

Newborn screening tests help to identify potentially treatable or manageable congenital disorders within days of birth. Life-threatening health problems, mental retardation, and serious lifelong disabilities can be avoided or minimized if a condition is quickly identified and treated.

Newborns can be routinely screened for many of these disorders before leaving the hospital using a few drops of blood. Each state has its own newborn screening program, so the number of tests performed varies by state

What tests do neonatal screening include?

Billi Check: Measuring bilirubin through the skin is a non-invasive transcutaneous bilirubin (TCB) technique. At present, it is the standard method for measuring bilirubin in serum (SB = bilirubin serum), which requires blood sampling. As bilirubin testing is one of the most commonly performed tests for infants, the Bilicheck device as a non-invasive bilirubin measurement technique to reduce the need for blood sampling, as well as to reduce pain in infants and parenting stress as well as lowering laboratory costs and reducing the risk of infection and anemia. In most studies, the Bilicheck device has been a useful tool in determining neonatal bilirubin levels.

 

Phenylketonuria (PKU) PKU is a congenital metabolic disorder in which the phenylalanine amino acid accumulates in the fluids and nervous system. Accumulation of this amino acid occurs due to the absence of the enzyme needed to convert phenylalanine to tyrosine. Abnormal accumulation of this amino acid in the baby’s body is dangerous and can cause disorders in the brain, skin and mental retardation.

 

Congenital hypothyroidism: Congenital hypothyroidism (hypothyroidism) occurs when the levels of thyroid hormones decrease due to impaired normal development of the thyroid gland. This thyroid disorder will not be able to produce the hormone needed for the baby. In order to prevent the spread of complications such as mental retardation, learning disorders and growth retardation, treatment should be initiated in the first week after the baby is born. The disease can be cured by taking thyroid hormones orally.

 

G6PD Deficiency: Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder often seen in men. The main effect of these conditions is on red blood cells. The primary task of red blood cells is to deliver oxygen to the lungs to other tissues in the body. When the G6PD enzyme is defective. The red blood cells are rapidly destroyed, this is called hemolysis. Following these conditions, the person will develop hemolytic anemia and will experience conditions such as weakness and dizziness. Red blood cells lacking G6PD are more susceptible to certain toxins, foods, and infections than normal red blood cells.

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