According to the World Health Oganisation (WHO), there are more than 200 million pregnancies a year worldwide. There is a huge, growing interest in non-invasive prenatal testing and it is thus no surprise that several companies offer NIPT. While most experts agree that non-invasive prenatal testing is a screening test and not a diagnostic test, the evidence supporting its high sensitivity in detecting certain diseases and chromosomal abnormalities is indisputable. The tests are all based on the analysis of fetal DNA in a maternal blood sample. Some of the main players in the field of NIPT include:
Ariosa Diagnostics, Inc. is a leading global molecular diagnostics company which develops and delivers innovative and widely-accessible testing services through its CLIA laboratory. The company, located in San Jose, California, was acquired by the Swiss multinational health-care company F. Hoffmann-La Roche Ltd in 2014.
Ariosa has developed leading-edge technologies to perform a directed analysis of cell-free DNA in blood.
The main test marked by the company is called the Harmony Prenatal test. This is a blood screening test for trisomies 21 (Down syndrome), 18, and 13.
In 2015, another company offering non-invasive prenatal testing, San Diego’s Illumina ($ILMN) announced that it was filing a patent infringement suit against Roche’s ($RHHBY) Ariosa Diagnostics and its microarray-based Harmony Prenatal Test. The gene sequencing company accused Ariosa of violating its ‘794 patent, called “Multiplex Nucleic Acid Reactions.”
Genesis Genetics is the pioneer of pre-implantation testing of embryos for inherited genetic abnormalities. The company is located in Houston, Texas and was founded by world-renowned scientists who are largely responsible for founding pre-implantation genetic diagnosis (PGD) as a clinical practice. The company specialises in Pre-implantation Genetic Screening and Pre-implantation Genetic diagnosis and works with a vast network of clinics around the world.
The Serenity test is a Non-Invasive Prenatal Test (NIPT) offering reassurance during the early stages of pregnancy for the following:
- Patau syndrome (trisomy 13)
- Edwards syndrome (trisomy 18)
- Down syndrome (trisomy 21)
- Sex Chromosome abnormalities
These conditions occur as a result of missing or extra copies of chromosomes otherwise referred to as aneuploidies. In 2015 Genesis Serenity Fertility Specialists of Texas, a leader in the field of reproductive medicine in the Dallas area, worked with Genesis Serenity to perform Next-Generation Sequencing for chromosome screening in the Dallas/Fort Worth metro area.
Panorama Natera Prenatal Screen
Natera® is a rapidly growing genetic testing and diagnostics company with proprietary bioinformatics and molecular technology. The company offers a non-invasive prenatal test called “Panorama” which was launched in 2013; as with many other non-invasive prenatal tests, Panorama enables pregnant mothers to find out the likelihood of their baby having a chromosomal abnormality, such as Down syndrome. The test uses cell-free fetal DNA that is found in the mother’s blood.
The laboratory tests for:
- Chromosomal Abnormalities (such as Down syndrome)
- Sex Chromosome Abnormalities
- Microdeletions (such as DiGeorge syndrome, a condition which occurs in about 1 in 2,000 births)
Besides the above, the laboratory also offer baby gender testing.
Natera, previously known under the brand name of Gene Security Network, is a big player in the field of prenatal screening and prenatal diagnosis. The Panorama test has been endorsed by the International Society for Prenatal Diagnosis (ISPD) although the company clearly states that its tests have not been cleared or approved by the U.S. Food and Drug Administration (FDA).
Sequenom Laboratories is an American company based in San Diego, California and offer genetic testing for reproductive health, carrier screening as well as genetic counselling.
The company offers 4 prenatal blood tests which include:
MaterniT® GENOME: The test analyses fetal chromosome to look for deletions on chromosomes or extra chromosomes. Sequenom states that this test is the only prenatal test that looks at every single chromosome in the blood sample provided whilst many other tests analyze just a few chromosomes to report common genetic information.
The test, like the other prenatal tests, mainly looks at trisomy 21 (also known as Down syndrome), trisomy 18, or trisomy 13.
MaterniT® 21 PLUS: the laboratory-developed test can tell you if you are having a boy or a girl, and screens for both common and rare chromosomal abnormalities. Analysis of chromosomes 21, 18, 13, fetal gender, sex chromosome abnormalities (such as Klinefelter syndrome (XXY).
Triple X (XXX) and XYY syndrome, or other additional information can be requested by a health care provider.
VisibiliT™: The test looks at the most common chromosomal abnormalities, trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). The test can also tell you if you’re having a boy or a girl.
SensiGene® RHD: The SensiGene® Fetal RHD Genotyping laboratory-developed test will help your health care provider determine if there is an increased risk of Rh blood type incompatibility between you and your baby and, if necessary, treat your baby for Rh disease.
Earlier in 2016, the company undertook a strategic move and layed off 20% of its workforce, selling off all operations in North Carolina. The company registered a loss of around 20% on its shares in 2015. Besides reducing costs, this move was aimed at enabling the company to focus more heavily on its core business: women’s health.
The future of non-invasive prenatal testing
Non-invasive prenatal testing should always be recommended hand in hand with genetic counselling as well as further diagnostic tests in cases of positive results. Furthermore, with the growing use of these tests across the world, countries will need to develop new regulatory legal frame works to ensure the strictest rules for companies and laboratories providing these tests. Many companies offering non-invasive prenatal testing also offer baby gender testing- sometimes the gender test is part of the testing package offered. The availability of such tests in countries where gender selection and sex based abortions are common practice will mean that companies and laboratories will need to rethink the way they offer the tests in these countries.