Abstract
PurposeTo demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child.MethodsA case report of maternal MI error compensation where single nucleotide polymorphism (SNP) microarray based comprehensive chromosome screening (CCS) was performed on the 1st and 2nd polar body, the resulting embryo, and newborn DNA.ResultsCCS performed after embryo transfer identified a chromosomally normal embryo that resulted from an oocyte with reciprocal aneuploid polar bodies. The first polar body was found to be missing a single chromatid derived from chromosome 21 and the second polar body possessed an extra chromatid derived from chromosome 21. Compensation of the maternal meiotic error was verified by CCS analysis of a trophectoderm biopsy from the resulting blastocyst which was euploid for all 23 pairs of chromosomes. DNA fingerprinting and CCS of the resulting newborn confirmed a chromosomally normal child, demonstrating the developmental potential of an oocyte with reciprocal aneuploid polar bodies.ConclusionsThis is the first case report demonstrating the reproductive potential of a chromosomally normal embryo derived from an oocyte which had undergone meiosis I error. Systematic investigation into the frequency of meiosis I error compensation and the negative predictive value of polar body aneuploidy screening for reproductive potential should be conducted in order to confirm clinical relevance.
Highlights
There is growing interest in the development of new comprehensive methods of 24-chromosome aneuploidy screening (CCS) to reduce the time to pregnancy and the incidence of miscarriage in patients with infertility
DNA fingerprinting and comprehensive chromosome screening (CCS) of the resulting newborn confirmed a chromosomally normal child, demonstrating the developmental potential of an oocyte with reciprocal aneuploid polar bodies. This is the first case report demonstrating the reproductive potential of a chromosomally normal embryo derived from an oocyte which had undergone meiosis I error
Systematic investigation into the frequency of meiosis I error compensation and the negative predictive value of polar body aneuploidy screening for reproductive potential should be conducted in order to confirm clinical relevance
Summary
There is growing interest in the development of new comprehensive methods of 24-chromosome aneuploidy screening (CCS) to reduce the time to pregnancy and the incidence of miscarriage in patients with infertility. Preclinical validation of array based methodologies have been encouraging [1,2,3,4,5,6] and clinical results of comprehensive methods have been promising [7, 8]. These studies have led to the development of a number of randomized controlled trials (RCTs) to assess clinical efficacy. The European Society of Human Reproduction and Embryology (ESHRE) Preimplantation Genetic Screening (PGS) Task Force has initiated a multicenter RCT to characterize the utility of polar body aCGH [9]. Each approach has a variety of theoretical limitations that are both technical and biological in nature [10]
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