Why Testing for Spinal Muscular Atrophy Before and During Pregnancy Matters?

Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant mortality worldwide, but it can be detected early through a simple blood test.

The incidence of spinal muscular atrophy (SMA) is estimated at approximately 1 in 10,000 newborns, while carrier frequency of the mutation occurs in about 1 in 40 to 50 individuals in the general population.

Understanding your genetic status before or during pregnancy empowers you to make informed, confident decisions for your family’s future.

What Is Spinal Muscular Atrophy?

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder that affects the nerve cells responsible for controlling muscle movement. Over time, it leads to progressive muscle weakness and difficulties with motor functions such as crawling, walking, swallowing, and breathing.

SMA occurs when a baby inherits mutations in the SMN1 gene from both parents. Carriers typically show no symptoms, which means the condition can remain hidden in families for generations. If both parents are carriers, there’s a 25% chance their child will be affected by SMA.

Why Is Testing for Spinal Muscular Atrophy Important Before and During Pregnancy?

- Early detection through a simple blood test SMA can be identified early, even before symptoms appear. Prenatal screening allows you to make informed decisions and prepare for your baby’s health needs in advance.

- Both parents can be carriers without knowing it You and your partner might carry the SMA gene mutation without showing any signs of the disease. A genetic test reveals whether you are carriers, helping you understand the potential risk for your baby.

- Informed care from the very beginning Having this information before or early in pregnancy allows healthcare professionals to monitor and prepare for any necessary medical support immediately after birth.

- Peace of mind and proactive choices Early genetic testing provides clarity, reduces anxiety, and empowers parents to take proactive steps toward protecting their baby’s health.

SMA Testing Is Now Included in Our NIPT

You can now test for Spinal Muscular Atrophy alongside our Non-Invasive Prenatal Test (NIPT), offering comprehensive screening for 118+ genetic conditions.

Our NIPT is:
✔ Safe and non-invasive – only a simple blood sample from the mother is needed.
✔ Accurate and advanced – detects genetic conditions with high precision.
✔ Comprehensive – we can now include SMA testing, giving you deeper insight into your baby’s health and development.

Knowledge That Empowers Families

Early detection saves lives and knowledge empowers parents to take control of their child’s health journey. With our advanced NIPT, you can gain peace of mind and the confidence that you’re doing everything possible to ensure a healthy start for your baby.