Month: October 2014

OBJECTIVE: To estimate how many additional chromosomal abnormalities can be detected by diagnostic testing compared with noninvasive prenatal testing in a high-risk prenatal population.

METHODS: All karyotype results of invasive prenatal testing in singleton pregnancies performed in response to a positive prenatal screen through the California Prenatal Screening Program from April 2009 through December 2012 were examined. Abnormal karyotypes were categorized as to whether the abnormality is detectable by current noninvasive prenatal testing methods.

RESULTS: Of 1,324,607 women who had traditional screening during the study period, 68,990 (5.2%) were screen-positive. Of screen-positive women, 26,059 (37.8%) underwent invasive diagnostic testing and 2,993 had an abnormal result (11.5%). Of these, 2,488 (83.1%) were predicted to be detectable with current noninvasive prenatal testing methods, and 506 (16.9%) were considered not currently detectable. Trisomy 21 accounted for 53.2% of the abnormal results (n=1,592). Common aneuploidies, detectable by noninvasive prenatal testing, comprised a higher percentage of abnormal results in older women (P<.01).

CONCLUSION: For pregnant women with a positive aneuploidy screen who pursued diagnostic testing, 16.9% of chromosome abnormalities are not currently detectable by noninvasive prenatal testing. Undetectable aneuploidies range from relatively mild to those associated with significant disability. This is important information to be considered by patients, health care providers, and screening programs in evaluating the use of traditional screening and invasive prenatal diagnosis compared with noninvasive prenatal testing.

Commercial non-invasive prenatal testing (NIPT) company Sequenom has acquired new global intellectual property from Isis Innovation, the University of Oxford’s technology transfer entity. The transaction, which gives Sequenom ownership of methods for ‘non-invasive prenatal genetic diagnostic testing on paternally inherited fetal nucleic acids derived from maternal plasma or serum’, carried a $14.55 million (over £9m million) price tag. This included $3.2 million in outstanding license payments from Sequenom to Isis for previous exclusive rights to the use of key NIPT intellectual property. Read more.

 

The European Patent Office has issued patent number EP2561103B1 for invention to BGI for its independently researched non-invasive prenatal genetic test (NIPT) technology. This technology has been developed by BGI in connection with the provision of its market leading NIPT, the NIFTY® test. The patent is effective in 15 member countries including England, Belgium, Spain, Slovenia, Hungary, Sweden, Turkey, Switzerland, Italy, France, Denmark, Germany, Czech Republic, Poland and Romania.

This patent was granted by the European Patent Office. This is the first patent for non-invasive prenatal genetic testing technology approved by the Europe Patent Office to a mainland Chinese registered company.

Meanwhile, the State Intellectual Property Office of China also issued a Notice of Grant of Patent Right to BGI, meaning that this patent has been granted domestically as well as internationally. Read more.