Sequenom Laboratories, founded in 1994, was a biotechnology company that advanced prenatal diagnostics. It focused on developing molecular technologies and sensitive genetic tests. Their innovations aimed to provide less invasive options for assessing fetal health during pregnancy.
Pioneering Non-Invasive Prenatal Testing
Non-invasive prenatal testing (NIPT) represents a significant advancement in prenatal care, offering an alternative to more invasive traditional diagnostic methods. Historically, procedures like amniocentesis and chorionic villus sampling (CVS) were used to detect chromosomal abnormalities, but these methods carry a small risk of complications, including miscarriage. Sequenom was a leader in developing and commercializing NIPT, which only requires a blood sample from the pregnant mother.
The underlying principle of NIPT involves detecting cell-free fetal DNA (cffDNA) circulating in the maternal bloodstream. This cffDNA originates from the placenta and carries the genetic information of the developing fetus. By analyzing these minute fragments, NIPT can screen for certain chromosomal conditions without directly sampling fetal cells, providing a safer option for expectant parents. The introduction of NIPT by companies like Sequenom transformed prenatal screening by offering high detection rates with minimal risk.
Understanding the MaterniT21 PLUS Test
Sequenom’s flagship product in prenatal diagnostics was the MaterniT21 PLUS test, launched in October 2011. This test screens for several chromosomal abnormalities. It was designed to detect common trisomies, which occur when there is an extra copy of a chromosome.
Specifically, the MaterniT21 PLUS test screens for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome). Beyond these common trisomies, the test also screens for sex chromosome aneuploidies (SCAs), which involve abnormal numbers of X or Y chromosomes, such as Turner syndrome (45,XO) and Klinefelter syndrome (47,XXY). The test can be performed as early as nine weeks of gestation, though some healthcare providers suggest waiting until at least 10 weeks to ensure a sufficient fetal fraction of DNA in the maternal blood for accurate results.
A blood sample is collected and sent to a specialized laboratory to analyze the cell-free DNA fragments. The analysis measures DNA proportions to identify chromosomal abnormalities. The test has demonstrated high accuracy, with a reported detection rate of 99.1% for Down syndrome, and similarly high rates for Trisomy 18 and Trisomy 13. Results are typically returned within five business days.
The Company’s Evolution and Acquisition
Sequenom Laboratories experienced significant developments throughout its history, culminating in its acquisition by Laboratory Corporation of America Holdings (LabCorp). In July 2016, LabCorp announced a definitive agreement to acquire all outstanding shares of Sequenom for $2.40 per share, totaling an equity value of $302 million and an enterprise value of approximately $371 million including net indebtedness. This acquisition was completed in September 2016.
The acquisition by LabCorp meant that Sequenom’s pioneering non-invasive prenatal testing technologies and services were integrated into LabCorp’s extensive diagnostics portfolio. LabCorp recognized Sequenom as the first laboratory to offer a clinically validated NIPT test, MaterniT21, and noted that over 500,000 MaterniT21 tests had been performed prior to the acquisition. This integration allowed LabCorp to expand its women’s health offerings and strengthen its position in the NIPT market, both domestically and internationally, particularly in the European Union and Asia Pacific. While the distinct “Sequenom Laboratories” name may no longer be as prominent, its foundational NIPT technology continues to be offered under LabCorp’s umbrella, ensuring the continued availability of these advanced prenatal screening options.