Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies

• DOI: 10.1007/s10815-012-9746-6
• Publication Date: 2012-03-29T15:55:04Z
• Authors: Richard T. Scott; Nathan R. Treff; John Stevens; Eric J. Forman; Kathleen H. Hong; Mandy G. Katz-Jaffe; William B. School...
• Keywords: Adult; Chromosomes, Human, Pair 21; Infant, Newborn; Fertilization in Vitro; Aneuploidy; Polymorphism, Single Nucleotide; Meiosis; 03 medical and health sciences; Blastocyst; 0302 clinical medicine; Reproductive Medicine; Pregnancy; Reference Values; Obstetrics and Gynaecology; Genetics; Oocytes; Chromosomes, Human; Humans; Genetics(clinical); Female; Preimplantation Diagnosis; Developmental Biology

To demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child.A 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.CCS 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.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.