Many disorders screened with GeneSafe™ DE NOVO are not typically associated with abnormal prenatal ultrasound findings (especially in the first trimester), or may not be evident until late second/ third trimester or after delivery. Furthermore, family history is not a good indicator of risk for these conditions, which are commonly caused by de novo (not inherited) mutations, that cannot be detected by standard carrier screening as these mutations are not present on the parents. In addition, genetic disorders screened by GeneSafe™ are not detectable with current NIPT technology.
While traditional NIPT screens for conditions typically associated with advanced maternal age (e.g. Down Syndrome), GeneSafe™ DE NOVO screens also for genetic disorders that are associated with advanced paternal age (men that are >40 years old)14.
Disorders associated with advanced paternal age typically are caused by errors (mutations) in DNA arising during spermatogenesis. As a man ages, the chance for these errors to occur substantially increases.
Several genetic diseases show a stronger association advanced paternal age. For example, the risk for some genetic disorders, such as Achondroplasia, is up to 8 times higher in fathers with advanced paternal age. Other genetic diseases associated with advanced paternal age are Pfeiffer syndrome, Crouzen syndrome, Apert syndrome, thanatophoric dysplasia and Osteogenesis Imperfecta.
GeneSafe™ DE NOVO
is now the first non-invasive prenatal screen to detect disorders with an increased prevalence linked to advanced paternal age, ensuring a more comprehensive screen for couple of advanced age.
All pregnant women – regardless of age – are at
equal risk for the genetic conditions screened by GeneSafe™ DE NOVO
. Although the occurrence of each disorder is
relatively rare, the cumulative rate of occurrence
of these conditions (~1 in 600 or ~1 in 300, for
mutations causing development disorders15) is
similar to that of Down Syndrome, in younger women.
Test performed in Italy (Rome or MIlan)
20 years experience in prenatal molecular diagnostics
ISO 17025 accredited
Dedicated R&D team
Fast TAT: 10 days
Personalized genetic counseling
Over 200.00 genetic tests/year
Please contact a member of our Customers Service team at +39068811270 for more information or fill in all required information into the following form.