Putting Your Baby To The Test Required Health Exams For Newborns and Babies

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By Mia Bolaris-Forget

You may not be thinking about childcare just yet…but childcare extends beyond nannies and day care centers, and is crucial to ensuring the continued health and healthy development of your baby.

All states require that newborns undergo a series of medical exams that screen for metabolic birth defects, a practice that is standard across ALL of North America. And, the good news is that most newborns receive a clean bill of health. For babies exhibiting some concern, early diagnosis and treatment are among the best medicine.

Testing generally requires a small blood sample from the child before he/she is released from the hospital. Usually the heel is slightly poked with a needle to get some blood, which, in turn, is sent to the lab for examination and testing.

Medical professionals point out that there are commonly 29 standard tests for newborns including checks for PKU (phenylketonuria), sickle cell anemia, and hearing loss.

· PKU (phenylketonuria)
Infants diagnosed with this condition are unable to properly process a substance known as phenylalanine generally common to most food(s). Left untreated, this disorder allows phenylalanine to accumulate in the bloodstream, becoming dangerous to the brain, causing brain damage and mental retardation. Early detection may help prevent potential problems by offering parents a special diet for their newborn. This test is considered by professionals essential to the health of a child and is customary in North America
· Hypothyroidism
A condition present in newborns that are deficient in the hormone that allows for proper brain growth and development. Early diagnosis allows for early treatment. Babies are then given oral doses of the hormone stimulating normal brain development. Again, this test is standard across North America.
· Galactosemia
Gala, in this case is derived from the Greek root word meaning milk. Hence, infants with this condition are unable to assimilate galactose, or milk sugar. Normally the galactose is converted to glucose and used by the body for energy. Galactosemia is known to be extremely dangerous if not detected. The disorder, according to doctors can potentially cause infant death, blindness and mental retardation. The treatment for galactosemia calls for eliminating all milk and other dairy products from the baby’s diet.
· Sickle Cell Anemia
An inherited blood disease eliciting severe pain spells, damaging vital organs (i.e. lungs, kidneys an brain), and occasionally promoting dangerous infections and potential death in childhood. Early detection and treatment can alleviate serious pain; damage to vital organs such as the lungs, kidneys and brain; and, sometimes serious infections some of the complications of this disease.
· Congenital adrenal hyperplasia (CAH)
Children born with this “disorder” actually suffer from a group of disorders leaving them lacking in particular hormones. CAH interferes with normal genital development and, in severe circumstances, seriously affects kidney function and may cause death. Lifelong treatment with the missing hormones helps to keep this disorder under control.
· Hearing deficiency
Tests for hearing loss are usually conducted by using either a miniature soft earphone or microphone gently placed inside the baby’s ear. Prompt detection offers parents the opportunity to have their child fitted with hearing aids prior to six months of age. This early intervention generally helps counter significant speech and language impediments.

Professionals encourage parents to educate themselves on the recommended and available tests in your area as well as consulting with your health care provider or your particular regional health care offices.

They also point out that “abnormal” test results may not be cause for alarm. They remind parents that these tests are preliminary determinations and often require more testing for a more accurate determination.

Again, the key according to health care providers is early testing and diagnosis. While treatments are readily available, the remind parents the severity of early childhood diseases if not caught in time. Concerns related to metabolic birth defects include, physical complications, mental retardation, and infant mortality (in the most severe cases).

Following is a list of the conditions doctor’s test for, and the possible treatments for some:

· 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
· 3-OH 3-CH3 glutaric aciduria (HMG)
· Argininosuccinic acidemia (ASA)
· Beta-ketothiolase deficiency (BKT)
· Biotinidase deficiency (BIOT)
· Carnitine uptake defect (CUD)
· Citrullinemia (CIT)
· Congenital adrenal hyperplasia (CAH)
· Congenital hypothyroidism (HYPOTH)
· Cystic fibrosis (CF)
· Galactosemia (GALT)
· Glutaric acidemia type I (GA I)
· Hb S/Beta-thalassemia (Hb S/Th)
· Hb S/C disease (Hb S/C)
· Hearing deficiency
· Homocystinuria (HCY)
· Isovaleric academia (IVA)
· Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
· Maple syrup urine disease (MSUD)
· Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
· Methylmalonic acidemia (Cbl A,B)
· Methylmalonic acidemia (mutase deficiency) (MUT)
· Multiple carboxylase deficiency (MCD)
· PKU
· Propionic acidemia (PROP)
· Sickle cell anemia (SCA)
· Trifunctional protein deficiency (TFP)
· Tyrosinemia type I (TYR I)
· Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)