This is a very sophisticated genetic test that evlauates the genetic make-up of your baby to determine the risk for Down Syndrome, Trisomy 18 and neural tube defect using a blood test.
Non-Invasive Prenatal Testing (NIPT) uses next generation sequencing technology aiming to detect fetal aneuploidies such as trisomies 21, 18 and 13 through the analysis of cell-free DNA (cfDNA) originating from the placenta and present in maternal blood. The advantages of the test include that a blood sample can be used, early sampling from 10 weeks of pregnancy, no risk of miscarriage and offers superior sensitivity and specificity over existing biochemical tests.
Proprietary genetic sequencing technology and bioinformatics called Chrome, which is validated to screen for aneuploidies in chromosomes 21, 13, 18, X and Y and is accredited by the College of American Pathologists. The test has a sensitivity and specificity above 99% when a fetal fraction of 2% or more is obtained. This test is suitable for singleton, twin pregnancies, IVF and vanishing twin pregnancies. Chrome is not suitable when the mum has cancer, received stem cell therapy and had a recent blood transfusion, organ transplantation, immunotherapy or radiation. All patients with positive results should receive genetic counselling which can be arranged.
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