Immediately following birth, newborns are screened as part of a public health initiative for disorders that are treatable but not yet clinically visible. How newborn screening is done? A small amount of blood drawn from the infant's heel is tested. Before the infant leaves the hospital, this occurs, typically at 1 or 2 days of age. After the first 24 hours of life, the blood sample should be taken. However, because some mothers and newborns are released from the hospital within a day, some babies are tested within the first 24 hours. If this occurs, doctors advise taking another sample after the infant has been born for more than 24 hours.
By state, screening differs. As technology develops and therapies advance, tests may improve. Although there are national standards for newborn screening, each state or country is free to choose which tests to use. The Philippine Newborn Screening System consists of the following five (5) parts:
1. Actual Screening - It includes all procedures, tools, and methods used in the actual screening of newborns.
2. Follow-up and recall of patients who test positive for any of the 28 diseases in the enlarged newborn screening panel or any of the 6 disorders included in the newborn screening panel's panel, as well as individuals whose samples were rejected.
3. Diagnosis or confirmation of instances in patients who had favorable screening test findings.
4. Managing/treating and keeping an eye on infants whose condition has been proven.
5. Evaluation of the infant’s improvement who undergoes management of proven condition.
The following are the common diseases detected in newborn screening using blood tests:
- Glucose-6 Phosphate Dehydrogenase Deficiency
- Congenital Hypothyroidism
- Congenital Adrenal Hyperplasia
- Galactosemia
- Phenylketonuria
- Maple Syrup Urine Disease
- Cystic Fibrosis
- Biotinidase Deficiency
- Organic Acid Disorders
- Fatty Acid Oxidation Disorders
- Amino Acid Disorders
- Urea Cycle Disorders
- Hemoglobin Disorders
Different methods are used to screen for other conditions, including:
Hearing Loss – a unique tool is used to assess hearing. Presently, babies are being tested in almost all states.
Critical Congenital Heart Disease - using a pulse oximeter, the amount of oxygen in the infant's blood is measured. The infant can have a heart condition if the level is lower than expected.
Hence, the full advantages of early identification through newborn screening are ensured for children with verified newborn screening problems through long-term follow-up and management.
(//Jessabell B. Mondano, CMU On-The-Job-Trainee)
References:
Carreiro-Lewandowski E. (2002). Newborn screening: an overview. Clinical laboratory science : journal of the American Society for Medical Technology, 15(4), 229–238. Retrieved from https://pubmed.ncbi.nlm.nih.gov/12776783/
Kelly, N., Makarem, D. C., & Wasserstein, M. P. (2016). Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics, 44(2), 231–240. Retrieved from https://doi.org/10.1177/1073110516654133
Padilla C. D. (2003). Newborn screening in the Philippines. The Southeast Asian journal of tropical medicine and public health, 34 Suppl 3, 87–88. Retrieved from https://pubmed.ncbi.nlm.nih.gov/15906705/
Powell C. M. (2019). What is Newborn Screening?. North Carolina medical journal, 80(1), 32–36. Retrieved from https://doi.org/10.18043/ncm.80.1.32
