#asktheexpert trisomy 21 intermediate risk means a serious problem,when NT scan is normal?

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Accepted Answer

Trisomy 21, also known as Down syndrome, is a genetic condition caused by the presence of an extra 21st chromosome. If the NT (nuchal translucency) scan is normal but your result indicates intermediate risk, it typically means that the probability of the baby having Down syndrome is not very high or low—it's somewhere in the middle.

Here’s what it generally means:

NT Scan: The nuchal translucency scan is a prenatal screening test that measures the fluid-filled space at the back of the baby's neck. A normal NT measurement is usually a good sign and lowers the likelihood of chromosomal abnormalities like Down syndrome.

Intermediate Risk: If you get an intermediate risk, it suggests that the risk for Trisomy 21 is neither high nor very low. It might depend on factors such as the mother's age, blood tests, or other factors in your screening results.

Further Testing: Even if the NT scan is normal, intermediate risk results might still warrant additional testing for clarity. Your doctor might suggest non-invasive prenatal testing (NIPT), amniocentesis, or chorionic villus sampling (CVS) to provide a more accurate assessment.

Having an intermediate risk result doesn’t automatically indicate a serious problem, but it does mean that further evaluation might be needed to understand the overall risk more clearly. It’s essential to discuss the results with your healthcare provider to guide you through the next steps.