Understanding Turner Syndrome: Can NIPT Diagnose It?

Learn if Turner syndrome can be detected through Non-Invasive Prenatal Tests (NIPT) and the importance of confirmatory tests.

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Yes, Turner syndrome can show up on a Non-Invasive Prenatal Test (NIPT). NIPT screens for various chromosomal abnormalities, including Turner syndrome, which is characterized by the presence of a single X chromosome. However, confirmatory diagnostic tests like amniocentesis or chorionic villus sampling (CVS) are recommended for accurate diagnosis.

FAQs & Answers

  1. What is Turner syndrome? Turner syndrome is a genetic condition where a female is partly or completely missing an X chromosome, leading to various medical issues.
  2. What are the symptoms of Turner syndrome? Common symptoms include short stature, lack of ovarian development, heart defects, and certain learning disabilities.
  3. How accurate is NIPT for detecting chromosomal abnormalities? NIPT is highly accurate for screening chromosomal abnormalities, but positive results typically require confirmation through diagnostic testing.
  4. What are the confirmatory tests for NIPT results? Confirmatory tests include amniocentesis and chorionic villus sampling (CVS), which can provide definitive diagnosis.

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If you found this video helpful, check out our content on other prenatal testing methods and chromosomal conditions to better understand maternal and fetal health.

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