In June 2017, the Victorian Clinical Genetics Services became the first to include the assessment of all 24 chromosomes (chromosomes 1-22 + X and Y) in its non-invasive prenatal testing (NIPT) service. Most NIPT services identify pregnancies at increased chance of the common chromosome conditions such as Down syndrome, however percept™ now gives women and couples access to additional information about the health of their pregnancy.
Victorian Clinical Genetics Services (VCGS) assessed the motivations and experiences of over 200 women who had NIPT in Victoria. The study identified that detecting chromosome conditions and seeking reassurance as the most common reasons women wanted to use NIPT. The study also highlighted the importance of making informed decisions about prenatal screening and the results obtained.
Learn more about NIPT and read the study’s insights in full below.
Non-invasive prenatal screening (NIPS or NIPT) using cell-free DNA has been widely adopted into clinical practice and is currently used to identify pregnancies that have an increased chance of chromosome conditions such as Down syndrome, Edwards syndrome and Patau syndrome.
Genome-wide NIPS is an advanced form of NIPS that is used to screen all 23 pairs of chromosomes. This test can identify whole extra or missing chromosomes, as well as partial deletions or duplications of chromosomes.
The partumpost by VCGS is a short educational newsletter that explores a range of topics and questions related antenatal genetic screening and diagnostic testing.
partumpost April Vol1 Iss 1 - sensitive screening at low fetal fractions
partumpost May Vol1 Iss 2 - NIPT: twins, triplets & co-twin demise