Welcome to the news page. This page is updated regularly and provides the latest news and updates, including highlights from professional meetings, key research findings, society developments, and other information about noninvasive prenatal testing.
Welcome and introduction to NIPTupdate.com from Prof. Joris Vermeesch, Ph.D.
It is my honor and pleasure to welcome you as a reader of NIPTupdate.
Non-invasive prenatal testing (NIPT) has conquered the world. Since the proof of concept studies about 10 year ago and the clinical introduction in 2011, NIPT has become the mainstream method for the detection of fetal aneuploidies, especially trisomy 21, 18, and 13. NIPT was also the first genomic test to be widely implemented. Different professional societies have advocated the use of NIPT. Societies worldwide have adopted and accepted this new test as standard-of-care. If universally accepted and adopted, why then engage in monthly newsletter updates on NIPT?
All of you who are engaged in prenatal care know that the field is dramatically changing. NIPT is not a single test but a collective name for a plethora of different tests. The pregnant women can often choose amongst different NIPT options. And the pregnant women come to us, midwives, gynecologists, counselors, geneticists to guide their choices. To provide the best care it is quintessential to understand the options. But understanding the different options, the benefits and pitfalls is not evident. The accuracies of the different tests vary, the failure rates differ, some pregnancy complications can be included, others cannot. Even more confusing is that new tests are entering the market while old tests are repurposed. The scope of applications is broadening: In addition to the traditional fetal trisomy screening, it is now possible to detect rare autosomal trisomies, fetal segmental aneuploidies, genomic disorders, inherited mutations and, most recently, also Mendelian de novo mutations. In addition, it becomes possible to detect maternal pregnancies complications such as maternal cancers. To follow the latest developments, you need to plough through an avalanche of articles.
With this website, we aim to guide you. I will try to identify the most important novelties, describe the state-of-the art practices in different parts of the world and point you to relevant recent literature. I hope this can become an interactive endeavor. I welcome you all to comment on the selection of literature and topics or, proactively, make suggestions for future in depth analyses.