Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

OBJECTIVES To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. METHODS We validated a NIPT protocol for cell-free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument...

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...

Rapid prenatal testing using semiconductor sequencing?

Recent developments in sequencing technology have had a large impact in several areas of human genetics. One area in which the implementation of this new technology is closest to clinical use is prenatal testing. One tube of blood drawn from a pregnant woman is sufficient for testing the unborn child for Down syndrome with high diagnostic sensitivity and specificity. Approximately 10% of the DN...

A new era in noninvasive prenatal testing.

499 developing world, might help to encourage companies to spend resources on breakthrough innovation, rather than on minor modifications and lawyer fees. But whatever its implications for innovation, this much is clear: poor people around the world need better access to affordable drugs, and this decision will help to provide it. Disclosure forms provided by the author are available with the f...

And Genetic Testing for All . . . The Coming Revolution in NonInvasive Prenatal Genetic Testing