Dindin’s Newborn Screening

Dindin’s Newborn Screening

We had to sign a paper or something that we allow Dindin to undergo the newborn screening. It was fine with us, after all, that will enable us to know if there are congenital anomalies in Dindin. It will make it easier for us to avoid foods and medications that can be potentially harmful to her and thus not wait until things have gone bad.

Thankfully, newborn screening at Riverside Hospital only costs P650 and is covered by Philhealth. So good! I am just thankful for our Philhealth benefits, we got a big deduction from our total hospital bills.

According to kidshealth.org, Newborn Screening means, “Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.”

Here in the Philippines, here are the Disorders Screened by the newborn screening, according to Wikipedia.org:

1. CH (Congenital hypothyroidism) – is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life.

2. CAH (Congenital adrenal hyperplasia) – refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency

3. GAL (Galactosemia) – is a rare genetic metabolic disorder which affects an individual’s ability to properly metabolize the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.

3. PKU (Phenylketonuria) – is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.

4. PAH is found on chromosome number 12.Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial.

5. G6PD Deficiency – is an X-linked recessive hereditary disease characterized by abnormally low levels of the glucose-6-phosphate dehydrogenase enzyme (abbreviated G6PD or G6PDH). It is a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism.

How the newborn screening is done is called the Heel Prick Method. Thankfully, I was not there to witness it. Our employee who was the one who held her newborn first child cried so hard when the nurse pricked the heel of her baby because the baby also cried to hard. Oh, that would really tear my heart.

Dindin’s newborn screening results will be out in a month. We are praying that all her results would be normal.

Leave a Reply

Your email address will not be published. Required fields are marked *