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How do I know if I have Trisomy 13 Syndrome / Patau Syndrome?

What signs or symptoms may make you suspect you may have Trisomy 13 Syndrome / Patau Syndrome. People who have experience in Trisomy 13 Syndrome / Patau Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Trisomy 13 Syndrome / Patau Syndrome?

Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in the cells of the body. This condition affects approximately 1 in 10,000 to 1 in 16,000 live births.



Diagnosing Trisomy 13 Syndrome:



If you suspect that you or your child may have Trisomy 13 Syndrome, it is important to consult with a healthcare professional for a proper diagnosis. The diagnosis of this condition typically involves a combination of clinical evaluation, genetic testing, and imaging studies.



Clinical Evaluation:



A healthcare professional will assess the physical features and symptoms associated with Trisomy 13 Syndrome. These may include:




  • Cleft lip or palate

  • Small head (microcephaly)

  • Severe intellectual disability

  • Heart defects

  • Eye abnormalities

  • Polydactyly (extra fingers or toes)

  • Low muscle tone (hypotonia)

  • Seizures



Genetic Testing:



A genetic test called a karyotype is typically performed to confirm the presence of an extra copy of chromosome 13. This test analyzes the chromosomes in a sample of cells, usually obtained through a blood sample. It can identify any chromosomal abnormalities, including Trisomy 13.



Imaging Studies:



Additional tests such as ultrasound, echocardiogram, or MRI may be conducted to evaluate the internal organs and detect any associated abnormalities. These imaging studies can provide valuable information about the presence of heart defects, brain abnormalities, or other structural anomalies.



Early Detection:



It is important to note that Trisomy 13 Syndrome can often be detected during pregnancy through prenatal screening tests such as non-invasive prenatal testing (NIPT) or amniocentesis. These tests can analyze fetal DNA or amniotic fluid to identify chromosomal abnormalities, including Trisomy 13.



Conclusion:



If you suspect that you or your child may have Trisomy 13 Syndrome, it is crucial to seek medical advice and undergo the necessary diagnostic tests. Only a healthcare professional can provide an accurate diagnosis based on clinical evaluation, genetic testing, and imaging studies. Early detection and intervention can help manage the symptoms and provide appropriate support for individuals with Trisomy 13 Syndrome.


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Pregnant with our 4th child, some concerns where seen at 20 week scan. Eventually leading to the diagnosis of Trisomy 13..Currently 30 weeks pregnant and taking each day as it comes. Jeremiah has Spina Bifida, causing under developed cerebellum, Dext...

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