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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