During pregnancy, cell-free fetal DNA travels from the placenta and circulates in the mother’s blood along with her own cell-free DNA. This discovery led to the development of Non-Invasive Prenatal Testing. NIPT is a test taken by a pregnant woman that screens for certain genetic conditions in the fetus before birth. The benefit of NIPT is that it is performed much earlier during pregnancy and is more accurate than traditional screening tests currently in practice. While there are many NIPTs for Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13), sex chromosome (X & Y) aneuploidies (chromosomal changes) and microdeletions (loss of a small section of a chromosome), an NIPT test that stands out is VERAgene.
Designed and developed by NIPD Genetics, VERAgene is the only comprehensive NIPT test that can simultaneously screen for common aneuploidies, selected clinically significant microdeletions and a panel of 50 single gene (monogenic) diseases, likeβ-thalassemia, cystic fibrosis and phenylketonurea. Aneuploidies such as Down syndrome are screened by many NIPT and traditional screening tests due to their severity and incidence rate. However, the 4 microdeletions and the single gene diseases that are additionally detected by VERAgene cannot be detected prenatally by any other means apart from NIPT, as biochemical or ultrasound indications for these disorders are often non-existent. Additionally, they are not associated with maternal age so they can manifest at any age group – even ones that are not traditionally referred for prenatal screening. Consequently, if these genetic conditions are not detected before birth, it could take a lot of time for examination and specific testing for a person to be diagnosed; time that could have otherwise been spent receiving the appropriate treatment.
The 50 monogenic diseases screened by VERAgene are often severe with significant impact on the quality of life. These genetic diseases exhibit symptoms such as congenital anomalies, developmental delays, hearing loss, blindness and metabolic disorders. As they are autosomal recessive conditions, both parents have to be carriers of the same condition for their baby to be affected. People who are carriers do not exhibit any disease symptoms. Unless they have had pre-conception testing, have a family history of a specific condition, or live in regions where certain disorders have high prevalence – such as β-thalassemia in the Mediterranean or Tay-Sachs in Israel – they won’t necessarily know their status, or their risk of having an affected pregnancy. According to our research, the cumulative incidence rate of all 50 monogenic conditions, aneuploidies and microdeletions detected by VERAgene is approximately 1 in 65 pregnancies. Thus, VERAgene provides a high value to doctors and expecting parents by providing them with a comprehensive picture of the pregnancy with a single test that helps them make informed decisions early on during the pregnancy.
VERAgene is based on the same proprietary technology as NIPD Genetics’s new generation NIPT, VERACITY, which tests for aneuploidies in 21, 18, 13, X and Y chromosomes and select microdeletions. VERAgene can be performed as early as the 10thweek of gestation and it only requires a blood sample from the biological mother and a buccal swab sample from the biological father. These samples are sent from the clinician to the NIPD Genetics laboratory for analysis. The maternal blood contains cell-free DNA from both the mother and the fetus. Cell-free fetal DNA is isolated from the maternal blood and is analyzed along with the father’s DNA sample for any potential genetic mutations (alterations in the DNA). The results are sent back to the clinician within 4-7 working days, who then communicates them to the parents and provides the necessary counselling. Like other screening tests, a positive result indicates that there is higher chance of the embryo being affected – it doesn’t provide a diagnosis – and it should be confirmed with an invasive procedure, such as amniocentesis. The sample taken from this procedure is analyzed using the same advanced technology of NIPD Genetics without any additional charge, as part of the complete testing offered. VERAgene can be performed in single and twin pregnancies, and is also applicable for self-IVF pregnancies.
The advantage VERAgene offers – to screen for monogenic diseases which do not have any age-associated risk or other predisposition factors, in addition to aneuploidies and microdeletions – is of significant importance for patients and healthcare practitioners alike. VERAgene combines the unparalleled accuracy and superiority of NIPD Genetics’s technology in a testing panel that provides a cost-effective, comprehensive analysis that opens a new chapter in the field of non-invasive prenatal screening.
To learn more about all the conditions screened by VERAgene, please visit www.nipd.com/VERAgene.