All You Need to Know About New Born Screening

Scary, but most hereditary metabolism related disorders are undetected at birth. But with the Newborn Screening (NBS), a simple procedure to detect if a baby has a congenital metabolic disorder, these disorders can be prevented and managed for kids to live normal and healthy lives. Pediatrician Sherrylab Lagarto, M.D., stresses, "Now that NBS is available, parents should take advantage and have their babies tested."

How is it done?

NBS is ideally done between 24 and 48 hours after birth, but not later than three days of life. A few drops of blood are taken by pricking the baby's heel. The blood sample is blotted on a special absorbent filter card, dried for four hours, and sent to the Newborn Screening Laboratory. Results are available within seven working days to three weeks after the lab receives the blood samples. Dr. Lagarto explains, "NBS is a very sensitive screening test. This means that if your baby's results turned out to be negative, chances are, he does not really have any of the disorders it detects. But if your baby's test results turned out positive in any of the disorders, parents should not to be overly alarmed." Initial screening tests provide preliminary information that should be followed up by more precise confirmatory testing.

Most Common Disorders Detected by NBS

Congenital Hypothyroidism
"Hypo" meaning "not enough," Congenital Hypothyroidism stems from lack or absence of a thyroid hormone essential for the growth of the brain and body. If the disorder is not detected and hormone replacement is not initiated within four weeks, stunted growth and mental retardation may occur.
Treatment: Daily replacement of the missing thyroid hormone given in proper dosages to prevent side effects. As the child grows, the dosage increases.

Congenital Adrenal Hyperplasia

This is an endocrine disorder that causes abnormal hormone production that leads to salt loss that can contribute to severe dehydration and abnormally high levels of the male sex hormones in both boys and girls. If not detected early, babies may die within one to two weeks.
Treatment: Daily replacement of missing hormones, salt and sugar solution to prevent dehydration and surgery to correct the female genitals especially if it impedes urinating.

Galactosemia

Galactosemia is caused by the lack of a liver enzyme required to digest galactose, a breakdown product of lactose commonly found in milk products. Accumulation of galactose in the body can cause many problems, including liver diseases, mental retardation, cataracts and even death within one to two weeks of life.
Treatment: Strict "no lactose and galactose" diet. They cannot be breastfed due to lactose in human milk; instead they are given soy-based formula milk. Antibiotics are prescribed if a child accidentally ingests galactose.

Phenylketonuria

This condition is caused by the absence of an enzyme needed by the body to properly use one of the building blocks of protein called phenylalanine. If not diagnosed and treated early, it can cause mental retardation and seizures.
Treatment: Strict special diet: no food with phenylalanine, no breast milk, meat, chicken, fish, nuts, cheese, legumes and other dairy products; starchy foods such as potatoes, bread, pasta and corn must be monitored.

Glucose 6 phosphate Dehydrogenase Deficiency

This is a condition where the body lacks the red blood cells' enzyme Glucose 6 phosphate Dehydrogenase (G6PD). Red blood cells carry oxygen in the body and G6PD protects these cells from oxidative substances that may build up when one has fever or when taking certain medication. Lack of G6PD and too many oxidative substances in the body may cause the red blood cells to rupture, which can lead to hemolytic anemia wherein the red blood cells are destroyed faster than the bone marrow can produce.

Treatment: Management involves prevention of intake or exposure to drugs such as certain painkillers and fever-reducing drugs, antibiotics and anti-malarial drugs. Person's positive with G6PD should also avoid food such as fava beans, red wine, legumes, blueberries, soy and other soy products, tonic water, bitter melon and chemicals like naphthalene. Always inform your attending physician that you have G6PD to help him diagnose and prescribe correct medicines.