Newborn Screening for g6pd deficiency – What you should know

Having a baby is one of the happiest moments of a parent’s life. This joyous day also comes with some critical tests to determine if your child is clear from certain health conditions. These tests are known as Newborn Screening (NBS) tests and can make a huge difference in the health and wellbeing of your child.

What is Newborn Screening (NBS)?

The Newborn Screening (NBS) is a series of tests that detect any developmental, genetic, and metabolic disorders in a newborn baby. In addition to hearing and heart screening tests, a blood test will be done to check for several disorders, including:

  • Organic Acid Disorders

  • Endocrine Disorders

  • Fatty Acid Oxidation Disorder

  • Hemoglobinopathies

  • Urea Cycle Defect

  • Amino Acid Disorders

Some of these disorders are treatable; however, others, like glucose-6-phosphate dehydrogenase (G6PD) deficiency, are genetic. G6PD deficiency has no known cure but with enough information, it is manageable and children with this condition can still lead normal and healthy lives.

G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase enzyme, which hastens the body’s chemical reactions when exposed to triggers. Without it, the red blood cells are easily destroyed, which can lead to anemia and cause paleness, dizziness, headaches, dark-colored urine, and abdominal or back pain.

Why is NBS important?

Babies with inherent health conditions usually appear normal at birth; however, Newborn Screening (NBS) can detect these conditions even before symptoms appear. This is why it’s strongly suggested that parents have their newborn babies screened so early intervention can be given to prevent future health complications.   

How is Newborn Screening done?

Newborn Screening testing is required by law to be done 24 hours to 3 days after birth. It’s done as follows:

 

Other tests, including hearing and heart screening tests, are also subsequently done.

Where can I claim the NBS results?

Results are claimed from the health facility where it was performed. If the result is normal, it will be available within 7-14 days after the sample was collected and received at the National Screening Center. If the result is positive, the parents will be informed immediately by the health facility.

What are the NBS results, and what does it mean?

NBS results can be either positive or negative. A negative result means your baby is normal with no identified metabolic disorders. If the result is positive, a visit to the doctor is necessary as your baby may require additional tests to confirm or rule out the identified health condition.     

Hereditary diseases like G6PD deficiency are important concerns for any parent. Thankfully, newborn screening tests are there to help detect these at the earliest time possible so that appropriate steps can be taken to avoid triggering them and minimize disease complications. In addition, these ensure that the child can enjoy a happy and healthy life despite their health issues.

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References:

  1. MedlinePlus. Newborn screening tests. MedlinePlus resource page. Available at: medlineplus.gov/ency/article/007257.htm. Accessed 19 October 2021.

  2. Newborn Screening Reference Center (nsrc). Basic information about newborn screening. Nsrc resource page. Available at: https://www.newbornscreening.ph/index.php?option=com_content &view=section&layout=blog&id=3&Itemid=60. Accessed 19 October 2021. 

  3. The Royal Children’s Hospital Melbourne (RCH). G6PD deficiency. RCH resource page. Available at: www.rch.org.au/kidsinfo/fact_sheets/G6PD_deficiency/. Accessed 22 October 2021.

  4. National Institutes of Health-Philippines. (2017). Glucose-6-Phosphate Dehydrogenase Deficiency [Brochure].

  5. Congress of the Philippines. Republic Act No. 9288 An Act Promulgating a Comprehensive Policy and a National System for Ensuring Newborn Screening. 

  6. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). How is newborn screening done? NIH-NICHD resource page. Available at: www.nichd.nih.gov/health/topics/newborn/conditioninfo/how-done. Accessed 22 October 2021.

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