Illumina has signed an agreement to acquire genetic testing company Verinata Health for $450 million, with $350 million upfront plus up to $100 million in milestone payments through 2015. The deal was announced shortly before Verinata signed an exclusive commercial agreement with the biomedical tools and research giant PerkinElmer to expand distribution of its tests.

Verinata, a provider of non-invasive tests for the early identification of fetal chromosomal abnormalities, is counting on more physicians to adopt the technology given what the company estimates to be approximately 500,000 high-risk pregnancies annually in the United States.

The acquisition of Verinata brings this non-invasive prenatal test into the growing portfolio of reproductive medicine offerings from Illumina. Four months ago, Illumina acquired U.K.-based BlueGnome, another genetic testing company.

“The synergies between Verinata’s and Illumina’s capabilities, combined with the expertise in reproductive health gained from the acquisition of BlueGnome, enable Illumina to provide a compelling portfolio of offerings across the spectrum of reproductive health,” says Greg Heath, SVP and general manager of Illumina’s diagnostics business.

Illumina is positioning itself to be a leader in the prenatal testing market, a market in which competitors are rapidly leveraging massively parallel DNA sequencing of fetal chromosome fragments to detect aneuploidy, or abnormal chromosome number.

Bits of the growing fetus’ chromosomes floating around in the mother’s blood, referred to as circulating cell-free fetal DNA and derived primarily from the placenta, comprise approximately 3 percent to 13 percent of the total cell-free DNA in the mother’s blood. It is now possible to take a blood sample from a mother as early as 10 weeks into a pregnancy and get genetic results for the most common chromosomal abnormalities, including trisomies 13, 18 and 21, without the invasive sampling of amniocentesis or chorionic villus sampling, CVS. One drawback is that the new approach does not attain the precision of amniocentesis or CVS, and currently does not offer much other genetic information, other than sex chromosome information.

In December 2012, two medical associations agreed that non-invasive prenatal testing could be used as a primary screening test in women at increased risk of carrying a fetus with aneuploidy. The groups, The American College of Obstetricians and Gynecologists Committee on Genetics and The Society for Maternal-Fetal Medicine, said that the new approach may be a viable option for women 35 years or older at delivery, with fetal ultrasound indicating risk of aneuploidy or prior pregnancy with a trisomy.

The American College of Obstetricians and Gynecologists has long recommended that women, regardless of maternal age, be offered prenatal assessment for aneuploidy either by screening or invasive prenatal diagnosis, and the new recommendation potentially translates into new business.