Progression of Cell-free DNA Prenatal Testing

• October 2011: Sequenom, Inc. introduced MaterniT21, the first so-called non-invasive, or cell-free DNA (cfDNA) prenatal test. These noninvasive, molecular genetic tests are able to test fragments of DNA floating in the mother’s blood to indicate a risk for Down syndrome, trisomy 18, trisomy 13, and some sex chromosome abnormalities. Three other companies soon introduced prenatal screening tests based on the similar technology.
• October 2013: Sequenom announce its “enhanced sequencing series- its MaterniT21 PLUS test. The genetic targets were expanded to identify “clinically relevant” microdeletions, including 22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, as well as two additional trisomies (trisomy 16 and trisomy 22).
• July 2015: Sequenom announced their latest prenatal genetic test, MatierniT GENOME. The company claims this test is the first noninvasive prenatal test (NIPT) to provide “karyotype-level insight into fetal chromosomal status prior to considering an invasive procedure,” and claims it screens for very small deletions or gains at the subchromosomal level.
• July 2015: The American College of Obstetricians and Gynecologists (ACOG) released a Committee Opinion clarifying the limitations and use of cfDNA testing, and stating that it should not be used to screen for microdeletions, nor for women who have had multiple pregnancies
• 2015: cfDNA testing - originally offered only to women considered at high risk for having a child with Down syndrome - is now being offered to women at average risk. Some insurers are covering the test for all women.
• August 2015: Market projections are published that anticipate the prenatal testing market to be valued at $8.37 billion by 2019. The largest segment of the market is cfDNA testing with 37.6% annual growth through 2019.