Results
“POSITIVE“
Presence of one or more mutations:
the test detected one or
more mutations in one or more genes.
Mutations detectable through the PrenatalScreen®
may be classified under the following
prognosis categories:
• Known pathogenic: clinical
relevant mutations causing well-established
syndromes;
• Likely pathogenic:
variants that are likely clinical relevant and may
cause well-established syndromes;
•
Variants of uncertain clinical significance (VOUS):
findings with insufficient evidence available for
unequivocal determination of clinical significance;
• Benign: variants that are common
or observed in the normal population without known
phenotypic signs or inherited from a healthy parent.
Only variants classified as
"known pathogenic" and “Likely pathogenic” will be reported.
“NEGATIVE”
No mutations:
the test has not detected any disease-causing
mutation in the investigated genes. Such result
significantly reduces the probability that the fetus
is affected by the specific genetic diseases,
although no guarantee may be given that the fetus is
actually healthy.