Can CMA replace standard karyotyping?


Speaker:

Francesco Fiorentino, Italy

 

 

Speaker BIO:

fiorentino francesco Dr. Francesco Fiorentino, is founder and CEO of GENOMA, a private molecular genetics laboratory which is now one of the world's largest, fully integrated, specialized provider of genetics services. Dr. Fiorentino is a molecular biologist, internationally recognized in the fields of reproductive genetics, for its leadership in Preimplantation Genetic Diagnosis (PGD) and for its pioneering work in infertility and genetics. He is also well known as one of the pioneers in the creation of the specialties of reproductive and prenatal genetics and was the impetus behind development of many important concepts and techniques that have become standard in these important fields.

Dr. Fiorentino began his career at the the Italian Police Department- Forensic Science Service (FSS), Rome - Italy, where he spent 3 years performing research and investigation on forensic genetics, coordinating the DNA analysis unit.

Dr. Fiorentino later established GENOMA Laboratory, where he initiated a highly successful preimplantation genetic diagnosis (PGD) program, which has grown exponentially since its inception becoming one of the worldwide leaders in both in quality and volume.

Dr. Fiorentino is actively involved in PGD and the study of human oocytes and embryos, since almost two decades. His laboratory has a strong translational emphasis and is actively involved in the development of new techniques for improving the success rates of in vitro fertilization (IVF) treatment. Dr. Fiorentino’s research also aims to create novel PGD methods that are more comprehensive and more reliable than those in current use.

During his PGD activity, Dr. Fiorentino conceived and implemented the innovation of using Minisequencing technique for mutation detection on single cells, a procedure that is now widely used by most of the PGD centers.

Dr. Fiorentino and his group began clinical trials of array-comparative genomic hybridization (arrayCGH), a comprehensive chromosome screening method, aimed at revealing which of the embryos produced during an in vitro fertilisation (IVF) treatment cycle has the greatest potential for producing a child. The clinical application of this approach has been associated with some of the highest IVF pregnancy rates ever recorded and is now widely practiced worldwide.

Recently, he was responsible for the development and the first clinical application of Next Generation Sequencing (NGS) technology in Preimplantation Genetic Screening (PGS), for reliably screening the entire chromosome complement in embryos.

Dr. Fiorentino research work has been noted for its novelty and has frequently produced advances that have been translated from the research lab into clinical practice. His research has led to the publication of more than 40 peer-review papers and book chapters and has generated a great deal of media interest.

 

 

Overview

A significant number of important and large prospective clinical trials on chromosome microarray analysis(CMA) for prenatal testing that have been published recently. The combined data from these studies clearly indicate that, compared with conventional karyotyping, the use of CMA in prenatal diagnosis improves substantially the detection rate of pathogenic chromosomal abnormalities. The higher detection rate by CMA is not confined to cases with abnormal ultrasound findings. The results of the above studies demonstrate the improved diagnostic ability of CMA to detect clinically relevant abnormalities and the utility of bringing CMA into routine prenatal practice as a primary diagnostic tool for a number of other indications.
Findings to date provide substantial evidence for the introduction of CMA as a first-line test for all pregnant women undergoing invasive prenatal testing, regardless of risk factors, with the ultimate goal of improved prenatal diagnosis and a lower risk of giving birth to a chromosomal abnormal neonate.