Newborn Screening: Ensuring a Healthy Start for Your Baby

Newborn Screening: Ensuring a Healthy Start for Your Baby

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Congratulations on your pregnancy! As you prepare to welcome your little one into the world, it’s essential to consider all aspects of their health and well-being. One vital step in this journey is understanding the significance of newborn screening—a simple yet powerful tool that can provide your baby with a healthy start in life.

What Is Newborn Screening?

At its core, newborn screening is a preventive health test that aims to identify specific disorders in newborns, which, if left undetected, could impact their long-term health. The process involves the early detection, diagnosis, and treatment of certain genetic, endocrine, or metabolic disorders, ultimately reducing the risk of severe health issues, disability, and even death.

The Expertise Behind Newborn Screening

The Centre for Human Metabolomics (CHM) at the North-West University provides the service of Newborn Screening . Here, scientists with decades of experience in inborn errors of metabolism (IEM) work diligently to ensure the health of your child.

The CHM has a prestigious partnership with the metabolic laboratory of the University of Amsterdam, a world-renowned institution in metabolic medicine. Since the 1970s, the CHM has been providing diagnostic services to both the public and private health sectors in South Africa. While newborn screening may not currently hold the status of a health priority in the country, and not all medical schemes cover the test, the dedication of these scientists to your child’s well-being leads them to advocate and continue offering this vital service.

The Unique Nature of Newborn Screening

Newborn screening stands apart from other medical tests conducted during pregnancy and infancy. It specifically targets certain genetic, endocrine, and metabolic diseases that might not exhibit symptoms at birth but could cause harm later in life if left untreated. This unique blood test, performed on newborns, involves collecting a few drops of blood from your baby’s heel onto a special test paper. This paper is then sent for analysis.

What Conditions Does Newborn Screening Cover?

The comprehensive newborn screening test in South Africa checks for 24 disorders. The selection of these conditions is based on treatment availability and their prevalence in South Africa.

The Newborn Screening Process

The process of newborn screening is straightforward:

1. Request your paediatrician to order the test.

2. The test should ideally be done 1-3 days after your baby’s birth.

3. A trained nurse will collect a few drops of blood from your baby’s heel (or, in some cases, a vein).

4. This blood is then placed on a special blotting card.

5. The card is sent to us for testing.

6. You and your paediatrician will receive the results within 7 working days.

Timing Matters

The best time for newborn screening is between 24 and 72 hours after birth. However, it can be performed up to a week after birth. This window allows for the digestion and metabolism of essential nutrients from breast milk or formula, potentially revealing certain disorders. While tests done outside the ideal timeframe may still be useful, they become less accurate.

The Benefits of Newborn Screening

Newborn screening’s primary goal is to identify treatable disorders early. Without it, some infants may not receive diagnoses in time to prevent severe health issues, including mental retardation, blindness, liver problems, or even death. Early intervention and treatment can pave the way for a long and healthy life for infants with these conditions.

It can mean the difference between a lifetime of impairment and healthy development. For most babies, newborn screening will not uncover any disorders. However, for the few who do have a condition, this screening can make all the difference in the world.

Newborn screening has played a vital role in preventing or managing serious health issues. For instance, it can detect elevated phenylalanine levels in infants younger than 24 hours, enabling the early diagnosis of phenylketonuria (PKU) and preventing developmental delays.

Families affected by conditions like Isovaleric Acidemia have seen firsthand the life-saving impact of newborn screening. Early diagnosis and treatment have spared some children from the severe consequences of this disorder. 

Who Should Consider Newborn Screening?

These disorders are rare and often show no initial symptoms. As such, international practice recommends that all children undergo newborn screening. By testing all newborns, we increase the chances of detecting the few who are affected and need early treatment. This program offers comprehensive support, including case management, collaboration with doctors, counselling, health education, and family support to affected families.

Understanding the Costs

The cost of newborn screening is typically less than R2000 including all 24 disorders. However, not all medical schemes cover this cost. It’s advisable to check with your Medical Aid to confirm whether the test falls within your benefits and the amount that will be covered.

Take Action Today for Your Baby’s Health

Whether you have questions or are ready to order the test, we’re here to support you every step of the way.

Don’t hesitate to reach out through our contact form below. If you have any inquiries about newborn screening or need guidance on how to proceed, our dedicated team is ready to provide you with the information and assistance you need.

Your baby’s health is a top priority, and newborn screening is a vital tool in safeguarding their future. Take the first step in securing a healthy start for your little one by contacting us today. Your peace of mind and your baby’s well-being are worth it.

GCxGC-TOFMS Untargeted

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Spectra identified via comparison with library spectra

NMR Untargeted

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Spectra identified via comparison with library spectra

LDL Cholesterol Subfractions

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The LDL subfraction test measures up to twelve lipoprotein fractions and subfractions (VLDL, mid-bands A-C and LDL 1 through 7)

HDL Cholesterol Subfractions

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Separates and quantifies up to 10 HDL subfractions, classified from large buoyant HDL lipoproteins (HDL-L) to small-dense HDL lipoproteins (HDL-S).