Preconception Genetic Tests for Reproductive Health

Reproductive Health


Pioneering purposeful innovation

As the pioneer of the noninvasive prenatal testing (NIPT) industry, Sequenom Laboratories was the first to offer a safe, reliable noninvasive prenatal testing method. We have been the market leader in this space ever since delivering a constant stream of purposeful innovation.

Major milestones in reproductive health

Launch of the HerediT® Cystic Fibrosis Carrier Screening laboratory-developed test, which offered superior detection rates and broader ethnic coverage when compared to the standard ACMG 23 recommended mutations panel.

The SensiGene® Fetal RHD Genotyping laboratory-developed test became the world’s first NIPT to detect circulating cell-free fetal DNA from maternal blood.

We announced the first NIPT for fetal chromosome 21 aneuploidy or trisomy 21 (Down syndrome) in the MaterniT® 21 laboratory-developed test.

The MaterniT® 21 PLUS laboratory-developed test added trisomy 18, trisomy 13, and fetal sex to the original analysis and also validated the test for use with multiple gestations.

MaterniT® 21 PLUS is enhanced with testing for sex chromosomes aneuploidies, several microdeletions, and trisomies 22 and 16.

Still more additions to the MaterniT® 21 PLUS test allowed for the detection of additional microdeletions.

We launched the MaterniT® GENOME laboratory-developed test, the first genome-wide NIPT.