Understanding Lab Tests for Patau Syndrome (Trisomy 13)
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Patau Syndrome (Trisomy 13) is a rare genetic disorder caused by having an extra copy of chromosome 13. This condition cannot be diagnosed through a single blood test alone, as definitive diagnosis typically requires genetic analysis. However, certain blood tests play an important role in prenatal screening to assess the risk of this chromosomal abnormality during pregnancy.
Recommended Test
Estriol, LC/MS/MS, Serum
This test measures estriol levels in the blood during pregnancy. Lower than normal estriol levels can be associated with an increased risk of Patau Syndrome in the developing baby. This test is typically used as part of comprehensive prenatal screening panels to help assess the likelihood of chromosomal abnormalities.
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The Role of Blood Testing in Patau Syndrome Screening
While blood tests cannot definitively diagnose Patau Syndrome, they are fundamental components of prenatal screening programs. These tests help identify pregnancies that may be at higher risk for chromosomal abnormalities, allowing healthcare providers to recommend additional genetic testing when appropriate.
Understanding Screening vs. Diagnosis
It's important to understand that screening tests like estriol measurement indicate risk levels rather than providing a definitive diagnosis. Abnormal results typically lead to recommendations for confirmatory genetic testing. Early screening allows for informed decision-making and appropriate prenatal care planning.
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. Genetic counseling is often recommended when screening tests indicate increased risk for chromosomal abnormalities.
