Frequencies of chromosome-specific mosaicisms in trophoectoderm biopsies detected by next-generation sequencing
| Autor: | Jason Hitkari, Rachel Butler, Gary S. Nakhuda, Chen Jing, Elizabeth L. Taylor, A. Albert Yuzpe, Niamh Tallon, Colleen Guimond |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Monosomy Biopsy Oocyte Retrieval Aneuploidy Biology DNA sequencing Andrology 03 medical and health sciences 0302 clinical medicine Pregnancy Ectoderm medicine Humans Sperm Injections Intracytoplasmic Preimplantation Diagnosis Retrospective Studies 030219 obstetrics & reproductive medicine medicine.diagnostic_test Mosaicism High-Throughput Nucleotide Sequencing Obstetrics and Gynecology Chromosome Middle Aged medicine.disease Trophoblasts Cross-Sectional Studies 030104 developmental biology Reproductive Medicine Distribution pattern Female Abnormality Trisomy |
| Zdroj: | Fertility and Sterility. 109:857-865 |
| ISSN: | 0015-0282 |
| DOI: | 10.1016/j.fertnstert.2018.01.011 |
| Popis: | Objective To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy. Design Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy. Setting Private fertility clinic. Patient(s) A total of 378 patients who underwent preimplantation genetic screening by NGS for routine clinical indications from February 2016 to April 2017. Intervention(s) None. Main Outcome Measure(s) Aneuploidies and mosaicisms were tabulated per chromosome, and whole-chromosome and segmental mosaicisms were also analyzed. Result(s) NGS results were analyzed from 1,547 blastocysts. Mosaicism was detected as the sole abnormality in 17.5% (n = 270) of samples but were also found in 196/634 aneuploid embryos, so the overall incidence of mosaicism per biopsy was 30.1%. Mosaicism did not statistically vary when stratified by maternal age. The mean rate of overall mosaicism per chromosome was 2.46%. When whole chromosome and segmental mosaicisms were compared, unequal frequencies were found in several chromosomes. Trisomy was more frequently detected as whole-chromosome mosaicism, although monosomy was more frequently seen in segmental mosaicism. Aneuploidy and mosaicism displayed different patterns of distribution in various chromosomes. Conclusion(s) Mosaicism is unequally detected in various chromosomes and appears distinct from the distribution pattern of constitutional aneuploidy. Whole chromosome and segmental mosaicisms are also differentially detected. These results contribute to the study of mosaicism, illuminating a differential pattern of detection across the genome. |
| Databáze: | OpenAIRE |
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