Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

Abstract:

INTRODUCTION:Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer. Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected. Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.

journal_name

Expert Rev Mol Diagn

authors

Sermon K

doi

10.1080/14737159.2017.1262261

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

71-82

issue

1

eissn

1473-7159

issn

1744-8352

journal_volume

17

pub_type

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