A marked increase in congenital conditions like autism, ADHD (attention deficit hyperactive disorder), ADD (attention deficit disorder) and many other mental disorders have been a growing concern for parents and those yet planning to raise their own children.
This growing concern marked the need for newborn screening tests to become a mandatory procedure after an infant is born. The test is done to determine possible abnormalities that the child will have that will be potentially life threatening if not detected early.
In general, newborn screening is done after the first 24 hours of life, blood sample is extracted from the sole of the feet, called the heel prick method and is transferred to a special paper for laboratory testing.
The results are out within a week after the samples are taken. A negative result means no disorders and a positive finding indicates a problem in a certain organ system or function.
Newborn screening today is done for several congenital disorders, the most widely mandated newborn screening tests for: endocrine disorders: congenital adrenal hyperplasia (CAH), congenital hypothyroidism; blood cell disorders: sickle-cell disease (SS); inborn errors of carbohydrate metabolism: Galactosemia;
Inborn errors of amino acid metabolism: Phenylketonuria (PKU), Maple syrup urine disease (MSUD), Homocystinuria and Inborn errors of organic acid metabolism: Biotinidase deficiency.
The trend today is to continue developing tests that will determine possible health problems of infants that are genetic in nature and can result to mental retardation. Ultimately, the objective of the test is to give them prompt treatment.
Education among parents plays a very important role in the success of this program. This should be emphasized during pregnancy especially if the couple belongs to the high risk group of having children with systemic disorders.
A collaborative effort among physicians and other health care professionals is also as important, because they will serve as the source of information and consultation.
Genetic counseling may also be an option for a couple to prepare them for the possibilities of a special child.
Above all else, discussion of treatment options and outcomes should not be missed especially with couples with a high probability of having a child with positive findings. Although treatment is an option, it should be made clear that the outcomes differ from patient to patient.
