PDF(Pubmed)
Abstract：
BACKGROUND: Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in situ hybridization (FISH) techniques, but recent advancements in high-throughput sequencing have enabled the use of genome sequencing for such differentiation. In this study, we present a 38-year-old male carrier of a paracentric inversion on chromosome 2q, inv (2)(q31.2q34), whose partner experienced recurrent miscarriages.
METHODS: FISH analysis confirmed the inversion, and genome sequencing was employed for detailed characterization.
RESULTS: Preimplantation genetic testing (PGT) revealed that all assessed embryos were balanced, consistent with the low risk of unbalanced offspring associated with PAIs. While PAI carriers traditionally exhibit low risk of producing unbalanced offspring, exceptions exist due to crossover events within the inversion loop. Although the sample size was limited, the findings align with existing sperm study data, supporting the rare occurrence of unbalanced progeny in PAI carriers.
CONCLUSIONS: This study highlights the possibility of characterizing PAIs using genome sequencing to enable correct reproductive counseling and PGT decisions. Detailed characterization of a PAI is crucial for understanding potential outcomes and guiding PGT strategies, as accurate knowledge of the inversion size is essential for appropriate method selection in PGT. Given the very low risk of unbalanced offspring in PAI carriers, routine PGT may not be warranted but should be considered in specific cases with a history of unbalanced progeny or recurrent miscarriages. This study contributes to our understanding of PAI segregation and its implications for reproductive outcomes.
METHODS: FISH analysis confirmed the inversion, and genome sequencing was employed for detailed characterization.
RESULTS: Preimplantation genetic testing (PGT) revealed that all assessed embryos were balanced, consistent with the low risk of unbalanced offspring associated with PAIs. While PAI carriers traditionally exhibit low risk of producing unbalanced offspring, exceptions exist due to crossover events within the inversion loop. Although the sample size was limited, the findings align with existing sperm study data, supporting the rare occurrence of unbalanced progeny in PAI carriers.
CONCLUSIONS: This study highlights the possibility of characterizing PAIs using genome sequencing to enable correct reproductive counseling and PGT decisions. Detailed characterization of a PAI is crucial for understanding potential outcomes and guiding PGT strategies, as accurate knowledge of the inversion size is essential for appropriate method selection in PGT. Given the very low risk of unbalanced offspring in PAI carriers, routine PGT may not be warranted but should be considered in specific cases with a history of unbalanced progeny or recurrent miscarriages. This study contributes to our understanding of PAI segregation and its implications for reproductive outcomes.
摘要：
背景：从染色体插入中区分准中心倒位（PAI）传统上依赖于荧光原位杂交（FISH）技术，但是高通量测序的最新进展使基因组测序能够用于这种分化。在这项研究中,我们提出了一个38岁的男性携带者，在染色体2q上有一个准中心倒位，inv（2）（q31.2q34），其伴侣反复流产。
方法：FISH分析证实了反演，和基因组测序用于详细表征。
结果：植入前遗传学检测（PGT）显示，所有评估的胚胎都是平衡的，与PAI相关的不平衡后代的低风险一致。虽然PAI携带者传统上表现出产生不平衡后代的低风险，由于反演循环内的交叉事件，存在异常。虽然样本量有限,这些发现与现有的精子研究数据一致，支持PAI携带者中罕见的不平衡后代发生。
结论：这项研究强调了使用基因组测序来表征PAIs的可能性，以实现正确的生殖咨询和PGT决策。PAI的详细表征对于理解潜在结果和指导PGT策略至关重要，因为准确了解反演尺寸对于PGT中的适当方法选择至关重要。鉴于PAI携带者后代不平衡的风险非常低，常规PGT可能没有必要,但在有不平衡子代史或复发性流产史的特定病例中,应予以考虑.这项研究有助于我们了解PAI隔离及其对生殖结果的影响。
方法：FISH分析证实了反演，和基因组测序用于详细表征。
结果：植入前遗传学检测（PGT）显示，所有评估的胚胎都是平衡的，与PAI相关的不平衡后代的低风险一致。虽然PAI携带者传统上表现出产生不平衡后代的低风险，由于反演循环内的交叉事件，存在异常。虽然样本量有限,这些发现与现有的精子研究数据一致，支持PAI携带者中罕见的不平衡后代发生。
结论：这项研究强调了使用基因组测序来表征PAIs的可能性，以实现正确的生殖咨询和PGT决策。PAI的详细表征对于理解潜在结果和指导PGT策略至关重要，因为准确了解反演尺寸对于PGT中的适当方法选择至关重要。鉴于PAI携带者后代不平衡的风险非常低，常规PGT可能没有必要,但在有不平衡子代史或复发性流产史的特定病例中,应予以考虑.这项研究有助于我们了解PAI隔离及其对生殖结果的影响。
