GeneSafe

GeneSafe – a non-invasive prenatal screening test

This blood test is designed to measure the combined maternal and fetal DNA present in maternal blood and is considered a genetic test. Your written consent is required to perform a genetic test.

To analyze the DNA from your blood, your health care provider will take a blood sample from you (two tubes between 7 and 10mL, in a standard blood draw). The physical risk to you of obtaining the blood sample is usually minimal.

Circulating cell-free fetal DNA is first purified from the plasma component of anti-coagulated maternal whole blood.

Through a state-of-the-art technological process, named Next Generation Sequencing (NGS) technique, 29 genes are completely sequenced (exons and adjacent intronic regions, ± 5 nucleotides) at high read depth (>500X). The resulting genetic sequences are analysed via an advanced bioinformatics analysis, to check for the presence of potential mutations in the genes under investigation.

GeneSafe de novo screens for 44 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited) in 25 genes that cause skeletal dysplasia, congenital heart defects, multiple congenital malformation syndromes, neurodevelopmental disorders, such as autism,
epilepsy, intellectual disability and sporadic cases of various rare dominant Mendelian disorders, such as Kabuki syndrome, Schinzel-Giedion syndrome and Bohring-Opitz syndrome. The rate of de novo variants has been shown to increase as paternal age advances. The 44 different disorders screened by this innovative test often occur in the absence of a family history of the condition.

The conditions screened meet at least one of the following criteria:

• Cause cognitive disability
• Require surgical or medical intervention
• Affect quality of life

GeneSafe Inherited screens for 5 common inherited recessive genetic disorders, such as Cystic Fibrosis, Deafness autosomal recessive type 1A, Deafness autosomal recessive type 1B, Thalassemia-Beta, Sickle cell anemia. While the results of the prenatal test are highly accurate,discordant results may occur. Cell-free DNA (cfDNA) testing does notreplace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis.