Down Syndrome Risk Calculator
Here’s a comprehensive table summarizing key information about the risk factors associated with Down syndrome:
| Category | Details |
|---|---|
| Definition | Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra chromosome 21. |
| Incidence | Approximately 1 in 700 live births in the U.S. |
| Risk Factors | |
| – Maternal Age | – Increased risk with advancing maternal age, particularly for women over 35. |
| – Paternal Age | – Some studies suggest a slight increase in risk with older paternal age. |
| – Family History | – A family history of Down syndrome or translocation can increase risk. |
| – Previous Child with DS | – Having a previous child with Down syndrome raises the risk for future pregnancies. |
| – Ethnic Background | – Slight variations in incidence across different ethnic groups, but overall risk remains similar. |
| Screening Tests | – First Trimester Screening: Combines blood tests and ultrasound to assess risk. |
| – Non-Invasive Prenatal Testing (NIPT): Blood test analyzing fetal DNA, more accurate than other screenings. | |
| – Amniocentesis and CVS: Invasive tests that can confirm the diagnosis but carry some risk of miscarriage. | |
| Symptoms | – Characteristic facial features (flat face, slanted eyes), hypotonia (poor muscle tone), and developmental delays. |
| Associated Conditions | – Congenital heart defects, gastrointestinal issues, hearing and vision problems, and thyroid disorders. |
| Outlook | – Early intervention and therapies can improve quality of life; many individuals lead fulfilling lives. |