Newborn Screening

Last Nov. 22,2007 I received a call from queen mary hospital about KC’s new born screening, the laboratory said that KC has positive in one of the of the five disorders in Philippine newborn screening program. I was so afraid,when the nurse said that it is not critical I become calm. The pediatrician told me that there will be confirmatory test. Tomorrow me and my wife will go to PGH for the confirmatory test.

These are five disorders being screened

1. Congenital hypothyroidism (CH) – lack or absence thyroid hormone,if not detected or treated can cause from mental retardation.
2. Congenital adrenal hyperplasia (CAH) – is an endocrine disorder that causes severe salt loss,dehydration and abnormally high levels of male sex hormones in both boys and girls. If not detected and treated early babies my die
3. Galactosemia (GAL) – is a condition in which babies are unable to process galactose, the sugar present in milk. Accumulation of excessive galactose in the body can cause many problems,including liver damage and cataracts.
4. Phenylketonuria (PKU) – is a rare condition in which the baby cannot properly use of one building blocks of protein called pheylalaline. Accumulation of excessive of pheylalaline in the blood can cause brain damage.
5. Glucose-6-Phospate Dehydrogenase Deficiency (G6PD) - is a condition where the body lacks the enzyme called G6PD. Babies with this deficiency may have hemoclytic anemia resulting from exposure to oxidative substances found in drugs,food and chemicals.

Glucose-6-Phospate Dehydrogenase Deficiency (G6PD) is where KC is positive, hopefully in confirmtory test she will be negative.Pediatician said that if positive KC will be going for diet treatment