In this December’s issue of Reproductive Biomedicine Online, the Recombine team published a review about the use of Microarrays for diagnosing both aneuploidy and single gene defects. The discussion is important as it brings to light a number of the promises, potential shortcomings, and improvements that can be made such that array technologies can help bring about higher success rates for fertility patients by employing newer biological techniques such as aCGH or SNP Microarrays.
The review, titled, “PGD and aneuploidy screening for 24 chromosomes: Advantages and disadvantages of competing platforms” discusses major developments in Preimplantation Genetic Diagnosis (PGD). Specifically, the review addresses the movement towards routine screening of 24 chromosomes and associated increases in implantation and pregnancy rates. Ethics and questions surrounding data quality for the reporting of parental origin of chromosomal aneuploidy were also raised.
Finally, the issue of low call rates on SNP microarrays arising from imperfect Whole Genome Amplification (WGA) protocols was analyzed and discussed. Reconstruction of parental haplotypes, though possible to a degree, still produced results further than ideal from clinical appropriateness. However, with improvements in WGA and or targeted SNPs would help ameliorate such concerns. Such technological innovations bring with them the promise of higher pregnancy rates and healthy children.