Using sophisticated screening protocols to identify genetic abnormalities is critical to current prenatal care. The aim is to detect high-risk pregnancies and provide appropriate counseling to parents regarding their options. Guidelines generally recommend Invasive Prenatal Diagnostic Testing (IPDT) in conjunction with a positive screening test. Additional indications arise from medical history and sonography, with notable variations identified between guidelines. In this context, it is essential to note that prenatal whole exome sequencing (WES) is a viable approach that can enhance the ability to provide accurate diagnostic capabilities in fetuses with sonographic abnormalities. This can lead to improved counseling for families, which is particularly important considering the expanding field of in-utero fetal therapy.
This eBook will examine the following:
- Existing approaches to prenatal WES, along with clinical indications for its use
- How VarSeq and VSClinical can be utilized for its use
- A few interesting cases of variants and their classifications
I recommend reading this eBook in conjunction with Clinical Variant Interpretation – Applying ACMG Guidelines to Analyze Germline Diseases" which is relevant for clinicians who need to report on hereditary diseases.
Dr. Andreas Scherer is CEO of Golden Helix. The company has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over a decade. Its innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from next-generation sequencing. With its solutions, hundreds of the world’s hospitals and testing labs are able to harness the full potential of genomics to identify the cause of disease, develop genomic diagnostics, and advance the quest for personalized medicine. Golden Helix products and services have been cited in thousands of peer-reviewed publications. Golden Helix is also on the Inc 5000 list of the fastest-growing private companies in the US.
He is also Managing Partner of Salto Partners, Inc., Inc., a management consulting firm headquartered in Nevada. He has extensive experience successfully managing growth as well as orchestrating complex turnaround situations. His company, Salto Partners, advises on business strategy, financing, sales, and operations. Clients are operating in the high-tech and life sciences space.
Dr. Scherer holds a Ph.D. in computer science from the University of Hagen, Germany, and a Master of Computer Science from the University of Dortmund, Germany. He is author and co-author of over 20 international publications and has written books on project management, the Internet, and artificial intelligence. His latest book, “Be Fast Or Be Gone”, is a prizewinner in the 2012 Eric Hoffer Book Awards competition, and has been named a finalist in the 2012 Next Generation Indie Book Awards!