Abstract SE1-1
NEW DEVELOPMENTS IN REPRODUCTION AND GENETICS MING CHEN, MD, PHD Departments of Research, Genomic Medicine, and Ob/Gyn, Changhua Christian Hospital, Taiwan
In the past decade, the clinical practice as well as research in the field of reproductive genetics has evolved rapidly, from the classic cytogenetics and Sanger-sequencing based technologies that had prevailed since 1980 to recent advances; prenatal diagnostic techniques have become less invasive, and the adoption of preimplantation genetic testing (PGT) has also improved, largely due to the advances of newer instrumentation and technology such as multiplex fluorescence in situ hybridization (mFISH), digital PCR, microfluidics, chromosome microarray, next generation sequencing (NGS), and the optimization of bioinformatics. Reproductive genetics has become an important pillar in this NGS-dominant era. However, on many occasions such paradigm shifts in the practice of reproductive genetics have been pushed forward initially by the demand of patients, which is often before reliable randomized controlled trials are available. The ability to sequence the entire fetal genome noninvasively from the maternal blood in a timely, efficient, and affordable way has long been sought and is considered the “Holy Grail” of prenatal diagnosis. Meanwhile, the attitudes of clinical practitioners are also evolving. It is now considered ethical by PGT-M (formerly known as preimplantation genetic diagnosis; “M” denotes monogenic diseases) to avoid the transmission of the monogenic inherited disorders from generation to generation; for PGT-A (formerly known as preimplantation genetic screening; “A” denotes aneuploidy) practitioners have divided opinions, wavering between full endorsement as a routine practice and total refusal. The rapid evolution of reproductive genetics also changed the practice and even training of subspecialties such as maternal fetal medicine (MFM) and in vitro fertilization (IVF) within the scope of obstetrics and gynecology. (Quoted from the Call for Papers of the Research Topic: “Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics”, published by Frontiers in Genetics, edited by Ming Chen, Kwok-Yin Leung, Antoni Borrell, Mark I Evans).
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