Newborn Screening

Newborn Screening, conducted through a blood test, is a method to detect new born babies for treatable hereditary, Endocrinology, hematologic and metabolic diseases. For this reason, this method has been adopted by many countries all over the world. Most of the diseases detected by newborn screening interfere with the baby’s body processes to produce energy and receive nutrients.

Generally speaking, inherited and metabolic disorders can stop the infant’s mental and physical development. Some parents do not even know that they are carriers of certain diseases and that they can pass along the gene to their children.

With Newborn screening, doctors can detect whether infants have conditions that will eventually affect their lives in the future. This simple blood test can create a difference between lifelong impairment and healthy development through early detection and treatment.

Newborn screening is ideally done 48 to 72 hours after breast milk is introduced and after post natal hormones that are usually high during the first day of life have subsided. Some institutions especially in third world countries do newborn screening as early as the first 24 hours but this action is not recommended since some diseases may not be detected at this time. Babies must be screened again after two weeks for more accurate results. The test is done by pricking the heel of the infant and placing the results through filter paper samples. Abnormal results should be reported as early as possible. Usually if the results are normal, parents are not informed about it anymore.

If the results are abnormal, health care professionals, usually nurses, report the findings to the doctor or nursery by telephone. They need to report the findings at the earliest time possible so that arrangements for evaluation of the infant can be done soon. The doctor will confirm the diagnosis by other diagnostic procedures such as DNA testing, enzyme assays, and mass spectrometry.

Depending on the findings of different procedures, the doctor will start treatment and will inform the parents about it. The performance of the newborn screening needs to maintain high quality standards so that no diseases will be left undetected. The guidelines for newborn screening and update have been published by the American Academy of Pediatrics.

There are many abnormalities that newborn screening can detect but there are only five mandated abnormalities or conditions that need to be tested routinely. These are:

Congenital Hypothyroidism (CH)
CH is a condition wherein there is the lack or absence of the thyroid hormone. Hypothyroidism occurs because of many factors, but in this case, hypothyroidism is acquired. The thyroid hormone is needed for the infant’s physical and mental growth. If this condition is not detected and treated within the first four weeks of life, the infant will suffer from stunted growth and mental retardation permanently.

Congenital Adrenal Hyperplasia (CAH)
This condition causes severe loss of salt and high levels of male sex hormone both in males and females. CAH causes severe dehydration and if not treated well, will lead to death.

Phenylketonuria (PKU)
PKU is a metabolic disorder wherein the protein called phenylalanine cannot be utilized properly by the infant’s body. When phenylalanine accumulates, brain damage will occur.

Galactosemia is a condition in which the body is not able to utilize the sugar called Galactose. Accumulation of galactose can lead to brain damage, liver damage and cataracts.

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Def)
G6PD deficiency is a condition where the body lacks the enzyme called G6PD. This deficiency can lead to hemolytic anemia that results from exposure to certain drugs, chemicals and foods.

In our present time, we are lucky enough to have new and advanced methods for early detection of diseases and treatments. Newborn screening will help infants live a healthy normal life. When babies are found to have positive results, it is best to immediately bring the child to the hospital or specialist for confirmation and further management.

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