![]() ![]() These conditions occur when there is a missing, extra, or incomplete copy of the X or Y chromosome. Sex chromosome aneuploidy conditions are included in MUMS NIPT. However, most babies born with Downs Syndrome are born to women under the age of 35, as the uptake of screening is less common in this age range. Chromosomal conditions such as Downs Syndrome do not typically run in families and can happen to anyone in pregnancy, although the chance of having a baby with Downs Syndrome increases with age. The NIPT test is the most accurate screening which is non-invasive using cfDNA (cell free DNA) to detect chromosome abnormalities. The NIPT test performance is superior to traditional screening for Downs Syndrome. Women may still choose to have their NHS 12-week scan and Nuchal Screening (or privately) but have NIPT privately. The detection rate from Nuchal Screening is 85-90% whereas NIPT Testing detection rates are 99.9% accurate for Downs Syndrome. It is not as accurate as the Gold Standard – NIPT – Illumina and Panorama. This test gives you a risk based on the Nuchal Translucency measurement, hormone blood results and maternal age. Nuchal Translucency 1 st Trimester combined screening test – is the traditional way of screening for Downs Syndrome in the NHS and is carried out between 11-14 weeks. There is also an option for you reveal the gender of the baby with a NIPT when the result is processed. This simple prenatal genetic blood test reveals the likelihood of your baby having a condition such as Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13) and other specific chromosome conditions. The test is a DNA/screening test where a sample of blood is taken from the mother from as early as 9 weeks gestation for Panorama and 10 weeks for Illumina. This is a blood test usually performed in conjunction with an ultrasound scan. A Non-Invasive Prenatal Test is a test offered in pregnancy to screen for common chromosomal conditions, without the risk of miscarriage.
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