Report Information

Possible Results with the PrenatalSAFE® test

"POSITIVE" - Aneuploidy Detected 
Indicates that the test produced a result compatible with a fetal chromosomal aneuploidy, at the level of one (or more) of the investigated chromosomes.

The reliability of the result is reported in the "Results" section of the report and in the "Test accuracy" section of the technical report. This result indicates that the fetus has one of the chromosomal conditions indicated but does not ensure that the fetus has this condition. The recommended follow-up is an invasive prenatal diagnosis test, such as chorionic villus sampling (Villocentesis) or Amniocentesis. 

The geneticist, in the context of genetic counselling, will explain in detail the test result and advise to confirm the result by invasive prenatal diagnosis. 

"NEGATIVE" - Aneuploidy not detected 
Indicates that the test did not detect aneuploidy at the level of the chromosomes examined, within the limits of resolution of the method.

The reliability of the result is reported in the "Results" section of the report and in the "Test accuracy" section of the technical report. This result indicates that the fetus does not exhibit aneuploidy at the level of the investigated chromosomes, but does not ensure that the fetus is healthy for such anomalies. In some cases the test may produce a non-optimal result. In this case the pregnant woman will be asked to collect a new blood sample in order to repeat the test. In other cases, the test could provide a result indicating a suspected presence of chromosomal aneuploidy (borderline result). In this case it will be advised to confirm the result by invasive prenatal diagnosis. In case the fetal sex analysis is also requested, this result can also be provided.

Possible Results with the PrenatalSAFE® Complete test

"POSITIVE" 
the test detected one or more mutations at the level of one (or more) genes investigated.

This result is compatible with a high risk for a specific genetic disease. The reliability of the result is reported in the "Results" section of the report and in the "Test accuracy" section of the technical report. This result indicates that the fetus has a high risk for the specific disease indicated, but does not ensure that the fetus has this condition. The recommended follow-up is an invasive prenatal diagnosis test, such as chorionic villus sampling (Villocentesis) or Amniocentesis. The Genoma Group geneticist (or a genetic specialist in general), during genetic counselling, will explain in detail the test result and advise to confirm the result by invasive prenatal diagnosis.

"NEGATIVE"  
the test did not detect any mutation in the fetus, de novo or inherited from the parents, to pathological significance known in the genes examined or mutations in compound homozygosis or homozygosis, in case of genetic hereditary transmission diseases.

This result is compatible with a low risk for a specific genetic disease. The reliability of the result is reported in the "Results" section of the report and in the "Test accuracy" section of the technical report. This result, however, greatly reduces the chances that the fetus has the genetic diseases examined, but can not guarantee that the fetus is healthy. In some cases (around 1%) the test could produce a non-optimal or inconclusive result. In such cases the pregnant woman will be asked to provide a new blood sample in order to repeat the test. In other cases, a paternal blood sample may also need to be examined in order to achieve an optimal interpretation of the results.

The GeneSAFE test only identifies mutations with known pathological significance. The test does not look for variants with benign meaning, ie those found in normal individuals and are devoid of pathological significance, and variants with uncertain clinical significance, ie those not yet known or characterised by the medical-scientific community.