It is certainly good news that your test came back within normal limits, and this means that it is highly likely that your baby does not have trisomy 18 (Edward Syndrome), trisomy 21 (Down Syndrome) or open spina bifida (open neural tube defect).
There is a difference between a screening test, however, and a diagnostic test. A screening test determines a risk only (high or low) and cannot give a definite “yes” or “no” and does have false positive and false negative results. A screening test is designed to find individuals in a large group of people who are more likely to have a rare condition, such as a fetus with Down syndrome, but it is not diagnostic. A person with a positive test result, or someone who simply wants to know for sure, would have to verify the screening test result with a diagnostic test. One example of a diagnostic test is amniocentesis.
As you know, the Integrated screening test involves analyzing a combination of ultrasound measurements, lab values, and maternal risk factors (such as age) to determine the likelihood a developing fetus has trisomy 18, 21 or open spina bifida. Integrated testing will be correctly positive in 94-96% of Down syndrome, 90% of trisomy 18, and 80% of open spina bifida.
If the Integrated test is positive or an individual wants a diagnostic test to know the status of their baby for sure, their healthcare provider will discuss the option of amniocentesis. Amniocentesis can detect Down syndrome and trisomy 18 with >99% accuracy, and >98% of open neural tube defects. Amniocentesis involves removing a small amount of fluid that surrounds the baby for lab analysis. This procedure does carry a small risk of pregnancy complications, including miscarriage.
Because a screening test is not foolproof, the difference between a screening test and a diagnostic test must be highlighted, but it is most likely that your baby is in the clear for Down syndrome, trisomy 18, and open spina bifida.
If you have additional questions, a genetic counselor or your healthcare provider can to discuss your lab results in more detail and review additional testing options.
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