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Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies
PURPOSE: To demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child. METHODS: A case report of maternal MI error compensation where single nucleotide polymorphism (SNP) microarray based comprehensive chromos...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370038/ https://www.ncbi.nlm.nih.gov/pubmed/22460080 http://dx.doi.org/10.1007/s10815-012-9746-6 |
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author | Scott, Richard T. Treff, Nathan R. Stevens, John Forman, Eric J. Hong, Kathleen H. Katz-Jaffe, Mandy G. Schoolcraft, William B. |
author_facet | Scott, Richard T. Treff, Nathan R. Stevens, John Forman, Eric J. Hong, Kathleen H. Katz-Jaffe, Mandy G. Schoolcraft, William B. |
author_sort | Scott, Richard T. |
collection | PubMed |
description | PURPOSE: To demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. |
format | Online Article Text |
id | pubmed-3370038 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-33700382012-06-21 Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies Scott, Richard T. Treff, Nathan R. Stevens, John Forman, Eric J. Hong, Kathleen H. Katz-Jaffe, Mandy G. Schoolcraft, William B. J Assist Reprod Genet Genetics PURPOSE: To demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. Springer US 2012-03-30 2012-06 /pmc/articles/PMC3370038/ /pubmed/22460080 http://dx.doi.org/10.1007/s10815-012-9746-6 Text en © The Author(s) 2012 https://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. |
spellingShingle | Genetics Scott, Richard T. Treff, Nathan R. Stevens, John Forman, Eric J. Hong, Kathleen H. Katz-Jaffe, Mandy G. Schoolcraft, William B. Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title | Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title_full | Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title_fullStr | Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title_full_unstemmed | Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title_short | Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
title_sort | delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370038/ https://www.ncbi.nlm.nih.gov/pubmed/22460080 http://dx.doi.org/10.1007/s10815-012-9746-6 |
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