Chromosomal analysis in IVF: just how useful is it?

Designed to minimize chances of transferring genetically abnormal embryos, preimplantation genetic diagnosis (PGD) involves

(PGT-A) aims to avoid miscarriage and live born trisomic offspring and to improve IVF success. Diagnostic approaches include

comparative genomic hybridization (aCGH), quantitative polymerase chain reaction (PCR), next-generation sequencing (NGS) and

simultaneously. Mosaicism (commonplace in human embryos) can arise by several mechanisms; those arising initially meiotically (but

are initially chromosomally normal (but then arise purely post-zygotically) can lead to unaffected live births is uncertain. Polar body

Historically, cleavage-stage (blastomere) biopsy has been the most popular; however, higher abnormality levels, mosaicism and

analysis. Improved biopsy, diagnosis and freeze-all strategies collectively have the potential to revolutionize PGT-A, and there is

consider the evidence base sufficient to justify routine PGT-A? Basic biological research is essential to address unanswered questions

more. This will benefit both IVF patients and prospective parents at risk of aneuploid offspring following natural conception. The aim

forward’ in terms of future diagnosis and applied research.