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Trisomies 21, 18, 13 - Sex chromosomes abnormalities - Microdeletions - Developing baby’s sex - Electronic Karyotype
Sensitivity 99,9%, Specificity 99,8% - Test failure < 0,1% - Fetal fraction calculation - Swiss quality
Fetal fraction > 4%: from the 10th week of pregnancy (12th for twin pregnancies)
Sample required is a standard maternal blood draw – Reduce the number of amniocentesis
Suitable for all types of pregnancies (Singleton and twin pregnancies, IVF) - Sample required is a standard maternal blood draw - Genoma Pro Interface for patient data and result reports
Results are issued within 3.5 working days in average from sample reception
“The Royal College of Obstetricians & Gynaecologists opinion is that, in time, this technology is likely to become the primary screen for chromosomal abnormalities in pregnancy.
Small fragments of genetic material, called cell-free DNA, circulate freely in every person’s bloodstream. In a pregnant woman, cell-free DNA includes not only maternal DNA but also fetal DNA from the 5th week of pregnancy, in a quantity between 2-40%, called fetal fraction (on average around 10%). This cell-free fetal DNA originates from the shedding of placental cells, and is continually released into the pregnant woman’s bloodstream. Fetal fraction) in the mother’s bloodstream increases during the second and the third trimester. Within a few hours after birth, cell-free fetal DNA is no longer detectable in the mother’s blood.
Today it is possible to analyze with high reliability the cell-free fetal DNA in the mother’s bloodstream when it is present in a percentage of at least 4%. This generally happens after the 10th week of gestation, allowing cell-free fetal DNA analysis from a standard maternal blood draw.
Cell-free DNA fragments are sequenced and identified by comparison to the human genome of reference. An aneuploidy in a pregnancy is detected when the calculated number of a chromosome is different than expected. Studies in pregnancies at high risk for trisomies have demonstrated that analysis of maternal blood cell-free DNA can detect 99,9% of affected cases at a false-positive rate of 0,1%.