Olive Fertility Centre, Vancouver, British Columbia, Canada; University of British Columbia, Vancouver, British Columbia, Canada.
Olive Fertility Centre, Vancouver, British Columbia, Canada.
Fertil Steril. 2018 May;109(5):857-865. doi: 10.1016/j.fertnstert.2018.01.011.
To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy.
Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy.
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.
研究下一代测序（NGS）检测到的染色体特异性嵌合体频率与染色体数目异常的比较。
对通过整倍体和嵌合体的染色体流行率分析滋养层活检的 NGS 结果进行回顾性横断面研究。
私人生育诊所。
2016 年 2 月至 2017 年 4 月期间，因常规临床指征接受 NGS 植入前遗传学筛查的 378 名患者。
无。
对每条染色体的非整倍体和嵌合体进行列表分析，并分析整条染色体和片段性嵌合体。
从 1547 个囊胚中分析了 NGS 结果。17.5%（n=270）的样本仅检测到嵌合体异常，但在 634 个非整倍体胚胎中也发现了 196 个，因此每个活检的嵌合体总发生率为 30.1%。当按母体年龄分层时，嵌合体的发生率无统计学差异。每条染色体的总嵌合体发生率平均为 2.46%。当比较整条染色体和片段性嵌合体时，在几条染色体上发现了频率不等的嵌合体。虽然单体性更常见于片段性嵌合体，但三体性更常被检测为整条染色体嵌合体。非整倍体和嵌合体在不同染色体上的分布模式不同。
在不同染色体上，嵌合体的检测率不均等，与染色体数目异常的分布模式不同。整条染色体和片段性嵌合体的检测也存在差异。这些结果有助于嵌合体的研究，阐明了整个基因组检测的差异模式。
