Unfortunately, while NT combined with the first trimester biochemical blood test is a very accurate screening test available for chromosomal abnormalities, it will not detect all fetuses affected with Down syndrome or other chromosomal abnormalities.Ĭhromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. Many patients do not wish to have the diagnostic test because of the small risk of miscarriage and prefer to have the ultrasound screening test, the NT scan, to help them decide if they wish to proceed to testing the fetus. These tests are invasive and require a needle to be passed into the maternal abdomen and uterus and therefore carry a small risk of miscarriage. The only way to diagnose Down syndrome or other chromosomal abnormalities is by having a diagnostic test - either a CVS or an amniocentesis - and testing the fetal cells. However, it will not give a yes/no answer to whether a problem such as Down syndrome is present. An ultrasound screening test is non-invasive and does not have any side effects or complications. The sensitivity of this only recently eclipsed by NIPT. This combined test is an extremely accurate non-invasive screening test available to help identify a fetus at risk for Down syndrome as well as other chromosomal abnormalities and some major structural abnormalities. ![]() ![]() This scan is combined with a blood test that looks at two specific hormones of pregnancy: the free-Beta hCG and PAPP-A (pregnancy associated plasma protein A). The nuchal translucency (NT) scan, or “12-week scan,” is an ultrasound performed in the first trimester between 11.5 weeks and 13 weeks, six days.
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