About this Research Topic

Background

Preimplantation genetic testing for monogenic disorders (PGT-M) is an offshoot of assisted reproductive technology (ART), which aims to provide patients at high-risk of transmitting a genetic disorder with unaffected, genetically related children, without having to contemplate pregnancy termination. This Research Topic considers the various molecular genetic techniques that have evolved to detect specific inherited monogenic disorders in preimplantation embryos with ever increasing accuracy.

While most PGT-M cases involve testing of embryos for disorders that are commonly subject to prenatal testing, the technology has also been applied in more controversial ways. These include the selection of tissue matched embryos, capable of providing stem cells for affected siblings, and more recently for the prediction of risk associated with polygenic disorders. Novel advances in molecular genetics, and the development of powerful sequencing technologies, has allowed the successful application of PGT-M to several hundred disorders caused by mutation of individual nuclear genes and has permitted analysis of mitochondrial DNA disorders. Importantly, next generation sequencing has also facilitated the combination of PGT-M with testing for aneuploidy, a principal cause of unsuccessful in vitro fertilization treatment. Awareness of the availability of PGT-M, and appreciation of the increasing efficacy of this important reproductive strategy, will help the medical community and society at large to avail themselves of these advanced techniques to decrease the burden genetic disease.

Levels of knowledge concerning PGT-M should be improved. There have been significant advances in recent years, both in genetics and in assisted reproduction, but these have often been poorly disseminated to the wider clinical community. Clinical genetics are often unaware that IVF success rates have improved, increasing the chances that PGT-M will succeed in its aim of producing an unaffected child. Similarly, fertility doctors may not have knowledge of the latest advances in genetics, which have expanded the scope of PGT-M and increased accuracy rates. In order to improve patient access to PGT-M, it is important to close knowledge gaps, sharing information on the latest advances within the field.

The goal of this Topic is to gather the global expertise of scientists working in this field, share their knowledge, and advance this field of Reproductive Genetics. Papers are sought that expand upon the topic of PGT-M, discussing its utility, its advantages and how to overcome diagnostic challenges.

We would like to address topics related to:
• The past, present, and future of PGT-M
• Laboratory and clinical applications of PGT-M, including screening for monogenic and polygenic disorders, application to inherited cancer predisposition and tissue matching
• Genetic counseling with respect to challenging subjects, such as mosaicism and polygenic disease
• Difficulties in Diagnosis
• Applications of inherited career screening
• Haematological disorders
• Haemoglobinopathies
• Haplotyping
• Genetic counseling and newer techniques like target sequencing
• Non-invasive PGT-M

Topic Editor Firuza Parikh is the Director of FertilTree Pvt. Ltd.
Topic Editor Dagan Wells is employed by Juno Genetics.
Topic Editor Santiago Munne is a Consultant for Cooper Surgical.

Keywords: Preimplantation genetic testing, PGT-M, Monogenic disorders, Next generation sequencing, Haplotyping, De novo mutations

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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