Information about the report

Achievable results with PrenatalSAFE® test


“POSITIVE“ - Aneuploidy detected


It indicates the test produced a result compatible with a fetal chromosomal aneuploidy, on one (or more) of the chromosome investigated.

The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates that the fetus presents one of the chromosomal condition indicated but does not ensure that the fetus has that condition. The follow-up recommended is an invasive prenatal diagnosis test, like the Chorionic Villus Sampling or Amniocentesis. The geneticist, during counseling will explain in a detailed way the test result and will recommend confirming the result by invasive prenatal diagnosis. In no way it is possible to use the Law 194/78 on the voluntary interruption of the pregnancy without having confirmed the test result by amniocentesis or chorionic villus sampling first



“NEGATIVE” - No aneuploidy detected


It indicates the test did not detect aneuploidies on the chromosomes examined, within the limits of resolution of the method.

The reliability of the result is written in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates the fetus does not show aneuploidies on the chromosomes investigated, but does not ensure the fetus is healthy for these anomalies. In some cases the test may produce a non-optimal result. In this case a new blood sample of the pregnant woman will be requested in order to repeat the exam. In other cases the assay may produce a result indicating a suspected presence of chromosomal aneuploidy (borderline result). In this circumstance is recommended to confirm the result through invasive prenatal diagnosis. In case in which the fetal sex analysis is also requested, the result can also be provided.

In some cases, the assay may produce a result indicating an aneuploidy suspected (borderline result). In this circumstance is recommended to confirm the result through invasive prenatal diagnosis, as well as for a positive result.
 

Achievable results with PrenatalSAFE® Complete test


“POSITIVE“


The test detected one or more mutations on one or more genes investigated.

This result is compatible with a high risk for a specific genetic disorder. The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates that the fetus presents one of the chromosomal condition indicated but does not ensure that the fetus has that condition. The follow-up recommended is an invasive prenatal diagnosis test, like the Chorionic Villus Sampling or Amniocentesis. The Genoma Group geneticist (or in general a genetic specialist), during counseling, will explain in a detailed way the test result and will recommend confirming the result by invasive prenatal diagnosis. In no way it is possible to use the Law 194/78 on the voluntary interruption of the pregnancy without having confirmed the test result by amniocentesis or chorionic villus sampling first.


“NEGATIVE”


The test did not detect any mutation, de novo or inherited from parents, with known pathological significance or mutations in compound heterozygosity or homozygosity, in case of inherited genetic disorders.

This result is compatible with a high risk for a specific genetic disorder. The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result, however, considerably reduces the possibility that the fetus has the genetic disorders examined but does not ensure that the fetus has that condition. In some cases (about the 1%) the test may produce a non-optimal or non-conclusive result. In these circumstances, for a better interpretation of the results, may be necessary also to examine a paternal blood sample.


GeneSAFE™ test only identify mutations with a known pathological significance. The test does not detect variations with benign significance, i.e. those observed in normal individuals and are lacking of pathological significance, and variations with likely clinical significance, i.e. those not known or characterized by the medical-scientific community yet.
 
Share: