What Happens During a Newborn Screening

Parents want only the best for their child. That is why it’s best to prepare early during pregnancy. But even then, some disorders can only be detected after the child is born. That’s where newborn screening comes in.

Benefits of Newborn Screening
Newborn testing determines the harmful or potentially life-threatening diseases not noticeable at birth. Some rare genetic disorders can also be detected through the procedure, making it possible for the parents to prepare for treatment.

Babies who look normal and healthy sometimes have medical conditions that aren’t noticeable. The goal of newborn screening is to prevent organ or brain damage and death caused by diseases that can be treated if detected early. Some diseases that cannot be cured and will affect the child for the rest of his/her life can be treated to prevent serious problems. Metabolic disorders for example don’t manifest physically.

Targeted Disorders
The following are the disorders the screening will try to find: amino acid disorders, fatty acid oxidation disorders, endocrinopathies, hemoglobinopathies, organic acidemias, cystic fibrosis, urea cycle disorders, lysosomal storage disorders, hearing loss, congenital heart defects, sever combined immunodeficiency, and others diseases depending on the programs within the jurisdiction.

Expanded Screening
In Singapore, most of the births are done in the hospitals so newborn screening is accessible. Neonatal screening began in 1965 in the country. Besides the basic newborn screening procedure, the parents can opt for an expanded newborn screening program too. Called the National Expanded Newborn Screening Programme, it includes the metabolic screening test to detect inborn errors of metabolism or IEM. The test is done when the baby has developed his/her feeding pattern between the second and fifth day after birth. Metabolic screening will be able to detect any of the three groups of metabolic disorders such as organic acid disorders, fatty acid oxidation disorders and amino acid disorders.

Screening Procedure
Newborn screening is done within 24 hours after birth. It is a standard medical procedure in hospitals. If the parents refuse because of religious purposes, they can talk to the health professionals about opting out.

First, a newborn screening card is filled out. Included in the information are the time of heel stick collection and the the baby’s first feeding. Then a few drops of blood from your baby’s heel is taken. The blood is blotted on an absorbent filter card. This card with the dried blood spots is sent to the laboratory for analysis.

When an abnormality is detected, the physician might require additional tests to confirm or eliminate some conditions before a treatment program is recommended for the baby.

Those with a family history of some disorders can request for additional tests. The only difference between newborn screening and the expanded newborn screening is the number of disorders that can be detected. Expanded screening also needs collected blood from the baby’s heel. Babies born during preterm or have low birth weight or are sick require several tests along with the necessary treatments.