Preimplantation Genetic Testing for Monogenic Disorders

Martine De Rycke; Veerle Berckmoes

doi:10.3390/genes11080871

journal article Open Access Jul 31, 2020

Preimplantation Genetic Testing for Monogenic Disorders

Martine De Rycke Veerle Berckmoes

Genes Vol. 11 No. 8 pp. 871 · MDPI AG

View at Publisher Save 10.3390/genes11080871

Abstract

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

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Details

Published: Jul 31, 2020
Vol/Issue: 11(8)
Pages: 871
License: View

Authors

M

Martine De Rycke

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium

V

Veerle Berckmoes

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium

Cite This Article

Martine De Rycke, Veerle Berckmoes (2020). Preimplantation Genetic Testing for Monogenic Disorders. Genes, 11(8), 871. https://doi.org/10.3390/genes11080871

Preimplantation Genetic Testing for Monogenic Disorders

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