Armstrong Abigail, Kroener Lindsay, Miller Jenna, Nguyen Anissa, Kwan Lorna, Quinn Molly
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of California, Los Angeles, California.
CooperSurgical, Livingston, New jersey.
F S Rep. 2023 Apr 8;4(3):256-261. doi: 10.1016/j.xfre.2023.03.008. eCollection 2023 Sep.
To understand how mosaicism varies across patient-specific variables and clinics.
Cross-sectional cohort.
Genetic testing laboratory.
A total of 86,208 embryos from 17,366 patients underwent preimplantation genetic testing for aneuploidy using next-generation sequencing.
Mosaic embryos were classified as either low-level (20%-40%) or high-level (40%-80%) and by type of mosaic error: single segmental, complex segmental, single chromosome, or complex abnormal mosaic. The rate of mosaicism was stratified by the Society for Assisted Reproductive Technology age categories: <35 years, 35-37 years, 38-40 years, 41-42 years, and >42 years.
Distribution of chromosomal findings and prevalence of mosaicism type by age. Probability of creating mosaic embryos in a subsequent cycle.
Among all embryos, 44% were euploid, 40.2% were aneuploid, and 15.8% were mosaic. Both low-level and high-level mosaicism were more prevalent among younger patients. Of all mosaic embryos, the youngest age cohort <35 years had the highest proportions of single and complex segmental mosaicism (37.9% and 6.8%, respectively), whereas those aged >42 years had the highest single whole chromosome and complex abnormal mosaicism (37.1% and 34.0%, respectively). Although there was variability in mosaic rates across clinics, the median mosaic rate over 3 years ranged from 14.48% to 17.72%. A diagnosis of a mosaic embryo in a previous cycle did not increase a patient's odds for having a mosaic embryo in a subsequent cycle.
Mosaicism is overall higher in younger patients, but the complexity of mosaic errors increases with age. A history of mosaicism was not associated with mosaicism in subsequent cycles. Additional research is needed to understand the etiologies of the various subtypes of mosaic embryos and clinical outcomes associated with their transfer.
了解嵌合体在不同患者特定变量和诊所之间的差异情况。
横断面队列研究。
基因检测实验室。
来自17366名患者的总共86208个胚胎接受了使用下一代测序技术进行的非整倍体植入前基因检测。
将嵌合胚胎分为低水平（20%-40%）或高水平（40%-80%），并按嵌合错误类型分类：单片段、复杂片段、单条染色体或复杂异常嵌合。嵌合率按辅助生殖技术协会的年龄类别进行分层：<35岁、35-37岁、38-40岁、41-42岁和>42岁。
按年龄划分的染色体检查结果分布及嵌合类型患病率。后续周期中产生嵌合胚胎的概率。
在所有胚胎中，44%为整倍体，40.2%为非整倍体，15.8%为嵌合体。低水平和高水平嵌合体在年轻患者中更为普遍。在所有嵌合胚胎中，最年轻的<35岁年龄组单片段和复杂片段嵌合的比例最高（分别为37.9%和6.8%），而>42岁的患者单条全染色体和复杂异常嵌合的比例最高（分别为37.1%和34.0%）。尽管各诊所的嵌合率存在差异，但3年期间的嵌合率中位数在14.48%至17.72%之间。前一周期诊断为嵌合胚胎并不会增加患者在后续周期中获得嵌合胚胎的几率。
总体而言，年轻患者中的嵌合体情况更为常见，但嵌合错误的复杂性随年龄增加而上升。嵌合体病史与后续周期中的嵌合体情况无关。需要进一步研究以了解各种亚型嵌合胚胎的病因及其移植相关的临床结局。
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