Understanding Lab Tests for Edwards Syndrome (Trisomy 18)
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Edwards syndrome, also known as Trisomy 18, is a genetic condition caused by an extra copy of chromosome 18. While the definitive diagnosis is typically made through genetic testing like amniocentesis or chorionic villus sampling, blood tests during pregnancy play an important supportive role in screening and risk assessment.
Recommended Test
Estriol, LC/MS/MS, Serum
This test measures estriol levels in the blood of pregnant women. Reduced estriol levels can indicate an increased risk of Edwards syndrome in the developing fetus. This hormone is produced by both the fetus and placenta, and abnormal levels may suggest chromosomal abnormalities that require further evaluation.
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The Role of Blood Testing in Edwards Syndrome Assessment
Blood tests alone cannot definitively diagnose Edwards syndrome, but they are fundamental components of prenatal screening programs. These tests measure specific hormones and proteins that may be altered when a fetus has the condition, helping healthcare providers assess risk levels and determine if further diagnostic testing is recommended.
Understanding Screening vs. Diagnosis
It's important to understand that blood screening tests like estriol measurement indicate risk levels rather than providing a definitive diagnosis. Abnormal results typically lead to additional testing, including genetic analysis, to confirm or rule out Edwards syndrome. These screening tests are valuable tools for early detection and pregnancy management.
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.
