The origins of aneuploidy research consortium

Abstract

The presence of high levels of aneuploidy in oocytes and early embryos and their fate is of considerable scientific and clinical importance. The Origins of Aneuploidy Research Consortium (OARC) was established to promote interdisciplinary communication and collaborative research into this topic. Under the umbrella of OARC, a series of papers has now been published in this Special Issue of Prenatal Diagnosis. Recent studies have transformed the view that aneuploidy is usually attributable to meiotic non‐disjunction. The molecular basis for the association between meiotic error and maternal age is becoming understood. The clinical significance of mitotic instability in the earliest cells divisions of the embryo is also becoming clearer. An error in the segregation of one or more whole chromosomes from a parent does not invariably result in a non‐viable pregnancy or an abnormal outcome. Epidemiologic data allows an assessment of in utero viability, the effect of maternal age, and secondary factors that may affect aneuploidy prevalence. We advocate careful use of nomenclature and revision of educational materials to more accurately explain the complex and often nuanced mechanisms. OARC plans to hold additional workshops, promote additional publications and offer educational resources.

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

“…Mosaicism, known as partial aneuploidies, can be caused by postzygotic mitotic nondisjunction and may be associated with a less severe presentation, depending on the chromosome involved and the extent of cells affected presenting as a mosaic euploid/aneuploid line. Human implantation embryos in early development can present mosaic aneuploidies at a high frequency, with potential consequences for implantation and loss, and reconciling this finding with the embryo's ability to self-correct may pose a challenge in determining the clinical significance of the genomic imbalance [10].…”

A founding father of reproductive genetics: Eugene Pergament (1933–2022)

“…Much research had already been carried out in the area but it was fragmented within different disciplines such as embryology, epidemiology, and molecular biology. OARC brought together experts from these disparate areas and has already shown that the ‘whole is greater than the sum of its parts’ as Prenatal Diagnosis readers will have seen from the recent issue 18 . Not only did Eugene promote RGF and OARC, but he also provided the funds to run them.…”

“…OARC brought together experts from these disparate areas and has already shown that the 'whole is greater than the sum of its parts' as Prenatal Diagnosis readers will have seen from the recent issue. 18 Not only did Eugene promote RGF and OARC, but he also provided the funds to run them.…”