NIPTIFY results are sent to your doctor or midwife via e-mail in 10 business days after your sample has arrived at our Precision Medicine Laboratory. Your midwife or doctor gives the results to you via telephone or e-mail or during your next appointment.
Possible entries on the results report:
– Trisomy 21, 18, 13 and monosomy X were not detected – please proceed with regular pregnancy monitoring. The sensitivity of the NIPTIFY test is so far almost 100% for all four chromosomes screened (T13, T18, 21 and X0). The specificities of the test (true negative/(true negative + false positive)) are 99.3%, 99.3%, 100% and 99.6%, accordingly.
– With a very high confidence the foetus has trisomy 13, 18, 21 or monosomy X. A high risk result has to be confirmed by an invasive diagnostic procedure (amniocentesis or chorionic villus biopsy).
– It is not possible to give a reliable risk assessment for the given sample (various biological or technical reasons). The result does not mean a higher risk of chromosomal disease. We ask for a repeat NIPTIFY sample that is free of charge for the patient.
In which case is it not possible to determine the risk of chromosomal disorder?
It is rarely impossible to determine the risk of chromosomal disorder with the NIPTIFY test. This is less than 1% of all cases. The reason is the low percentage of foetal origin cell-free DNA in the patient’s blood sample. If the percentage of foetal cell-free DNA is less than 4%, the NIPTIFY test is not able to reliably determine the risk of chromosomal disorder. Low foetal DNA may be caused, for example, by a high body mass index of the patient (BMI greater than 30). More than 85% of patients with high BMI have received a risk assessment of foetal chromosome diseases. In addition, low foetal cell-free DNA may be caused by too early testing or other biological and technical factors.
You can ask for a copy of the report in either electronic or physical form from your doctor or midwife.
You can find an example of a NIPTIFY report HERE.