How To Test Your Infant for Birth Defects

While in the past testing of an infant for birth defects did not take place unless either the parents or the attending physician noticed a problem, nowadays the testing of newborn children is a routine procedure that is undertaken during the first few hours of life and which may be repeated later on as needed. The philosophy behind the testing is a good one, since it ensures each child the opportunity to receive the earliest treatment possible for several conditions that may not present with visible symptoms until it may be too late to effectively treat the ailment. Yet in many cases the flipside of the testing rests in the fact that parents get lost in the alphabet soup of abbreviations and it is sometimes hard to understand what was tested and what the outcomes were.

Generally speaking, there are two methods employed when testing a child: a sample of blood is taken from the child via the heel and an external hearing test is administered. To make sure that you understand what testing your infant for birth defects actually means, here are explanations for some of the most common tests performed:
* The hearing test is quite simple in that a very small noise producing unit is placed into the child’s little ear canal. There are acceptable limits within which the child should respond to the auditory stimuli. Any deviation from these markers will result in a recommendation that the child should undergo further testing. It does not automatically mean, however, that your child is suffering from hearing loss.
* Sickle cell anemia is diagnosed via the blood sample taken. This birth defect directly affects the blood itself and therefore it is vital that it is diagnosed as early as possible to ensure that the child’s organs will not be adversely affected. While there is no cure, the management of any pain experienced as well as the prevention of organ damage is a vital reason for this testing.
* Hypothyroidism in infants can cause stunted growth as well as severely impact the development of the growing brain. Failure to catch this condition this early may result in moderate to severe impairment of brain function and also in conditions most commonly associated with the notation of “failure to thrive.” Fortunately, when the condition becomes apparent through the blood test, the infant can be supplemented with the missing hormone via oral dispensation and thus will enjoy a normal development.
* Another birth defect that is directly linked to absent hormones is congenital adrenal hyperplasia. When diagnosed, the child will receive supplements of the hormones and thus the actual disease associated with the birth defect will not manifest. If left untreated, the child may experience death due to renal failure as well as incomplete development of the genitalia.
* Abbreviated as PKU, this test will seek to ascertain the child’s ability to metabolize a chemical known as phenylalanine which is present in virtually each and every food product. Left untreated, the substance will gradually accumulate in the child’s system and eventually lead to severe brain impairments, including retardation. This can be avoided by formulating a specific diet for the child that will not cause the build up and thus the child will develop normally. A strict adherence to the diet is vital.