Understanding Lab Tests for Down Syndrome
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Down syndrome is a genetic condition caused by an extra copy of chromosome 21, typically diagnosed through genetic testing and clinical evaluation. While there isn't a single blood test to definitively diagnose Down syndrome itself, specific blood tests play a crucial role in prenatal screening to assess the risk of this condition during pregnancy.
Recommended Test
Alpha-Fetoprotein (AFP), Serum, Tumor Marker
This test measures AFP levels in maternal blood during pregnancy. Lower than normal AFP levels can indicate an increased risk of Down syndrome in the developing fetus. AFP testing is often part of comprehensive prenatal screening panels that help healthcare providers assess chromosomal abnormality risks and guide further diagnostic decisions.
2907 reviews
The Role of Blood Testing in Down Syndrome Screening
Blood tests are fundamental components of prenatal screening programs designed to identify pregnancies at higher risk for Down syndrome. These screening tests analyze specific proteins and hormones in maternal blood that may indicate an increased likelihood of chromosomal abnormalities in the developing fetus.
Understanding Screening Results
It's important to understand that screening tests like AFP provide risk assessment rather than definitive diagnosis. Abnormal results indicate increased risk and may lead to additional testing options. Healthcare providers use these results alongside other factors to provide comprehensive counseling and care recommendations.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment.
