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Trisomies 21, 18, 13 - Sex chromosomes abnormalities - Microdeletions - Developing baby’s sex - Electronic Karyotype
High detection rate - Fetal fraction calculation - Swiss quality
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
Results are issued within 6 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.
During pregnancy, cell-free fragments of the developing baby DNA circulate in the mother’s blood. Fetal DNA is detectable from the 5th week of gestation and its concentration increases during the weeks that follow. The amount of fetal DNA present in the mother’s bloodstream from the 10th week of gestation (12th week of gestation for twin pregnancies) is suficient to perform the test and guarantee the accuracy of the results.
Currently diagnostic protocols consist of the combined first- trimester screening (based on serology testing and nuchal translucency) followed by amniocentesis if it is positive. The lack of reliability of this first screening test results leads to invasive procedures that could have been avoided.
Every year, thousands of miscarriages are provoked by amniocentesis, resulting in the loss of a baby that is often not carrying any chromosomal abnormality.
This test is designed to detect numerical and some structural chromosomal abnormalities and is validated for chromosomes 21, 18, 13, X and Y. The test is validated for singleton and twin pregnancies with gestational age of at least 10 weeks and 12 weeks respectively. Genetic counseling before and after testing is recommended. The results issued for this test do not eliminate the possibility that this pregnancy may be associated with other chromosomal or subchromosomal abnormalities, birth defects, and other complications. A ‘No Aneuploidy Detected’ result does not preclude the presence of chromosomal abnormalities such as trisomy 21, trisomy 18, trisomy 13, XXX, XYY, XXY, or X0 (monosomy X) and microdeletions (false negative result).
Results of ‘Aneuploidy Detected’ or ‘High Risk of Microdeletion Detected’ are considered positive. In order to obtain a definitive diagnostic the patient should perform an invasive procedure like chorionic villus sampling or amniocentesis. There is a small possibility of false positive result (an ‘Aneuploidy Detected’ or a ‘High Risk of Microdeletion Detected’ report result in a chromosomally normal fetus) due to the abnormal presence of specific DNA circulating in the mother’s blood. These conditions include: confined placental mosaicism, vanishing twin and constitutional or acquired maternal anomaly. When an ‘Aneuploidy Detected’ result is reported in a twin pregnancy, the status of each individual fetus cannot be determined.
In twin pregnancies, if the fetal sex information has been requested, then the test will report if at least one male has been detected or if both fetuses are female. Limited number of data available for twin pregnancies precludes test performance calculations. A "High risk for microdeletion" will be detected only if those conditions are met: Cri-du-chat region (5p deletion): 9% fetal fraction (FF) & 20 MB deletion; Digeorge region (22q11 deletion): 9% FF & 10 MB deletion; Prader-Willi/Angelman region (15q11 deletion): 4% FF & 10 MB deletion; 1p36 deletion: 4% FF & 10 MB deletion. There is a small possibility of false positive results due to a low-coverage of sequencing in that particular region.