What if my preliminary result indicates an increased risk (screen positive) for Down syndrome or other abnormalities?
Do not panic! In most cases your baby will not have Down syndrome. You will be offered genetic counseling to discuss your screening results and options for further screening or diagnostic testing. Diagnostic testing options may include chorionic villus sampling (CVS) performed at 10 to 12 weeks 6 days of pregnancy or amniocentesis performed at 16 to 20 weeks of pregnancy. You may also choose to proceed to Step 2 of the state screening program and decide about diagnostic testing after your final screening results are available. What if my preliminary result is screen negative? A preliminary screen negative result is reassuring; however the test is NOT complete until you complete Step 2. Detection rates for Down syndrome and Trisomy 18 are higher when both Step 1 and Step 2 of the testing have been completed. In addition, Step 2 will provide you with a risk assessment for open spine defects and Smith Lemli Opitz syndrome (SLOS). How will I receive my final results? Your final results wil
Related Questions
- Are women who screen positive for Down syndrome, trisomy 18, or ONTDs in a previous pregnancy eligible for an amniocentesis in their current pregnancy?
- In practical terms, once a woman has a positive screen result, should she be counselled as per the risk estimate on the report?
- What if my preliminary result indicates an increased risk (screen positive) for Down syndrome or other abnormalities?
