PDF(Pubmed)
Abstract：
UNASSIGNED: Multiple morphological abnormalities of the sperm flagella (MMAF) is characterized by abnormal flagellar phenotypes, which is a particular kind of asthenoteratozoospermia. Previous studies have reported a comparable intracytoplasmic sperm injection (ICSI) outcome in terms of fertilization rate and clinical pregnancy rate in patients with MMAF compared with those with no MMAF; however, others have conflicting opinions. Assisted reproductive technology (ART) outcomes in individuals with MMAF are still controversial and open to debate.
UNASSIGNED: A total of 38 patients with MMAF treated at an academic reproductive center between January 2014 and July 2022 were evaluated in the current retrospective cohort study and followed up until January 2023. Propensity score matching was used to adjust for the baseline clinical characteristics of the patients and to create a comparable control group. The genetic pathogenesis of MMAF was confirmed by whole exome sequencing. The main outcomes were the embryo developmental potential, the cumulative pregnancy rate (CLPR), and the cumulative live birth rate (CLBR).
UNASSIGNED: Pathogenic variants in known genes of DNAH1, DNAH11, CFAP43, FSIP2, and SPEF2 were identified in patients with MMAF. Laboratory outcomes, including the fertilization rate, 2PN cleavage rate, blastocyst formation rate, and available blastocyst rate, followed a trend of decline in the MMAF group (p < 0.05). Moreover, according to the embryo transfer times and complete cycles, the CLPR in the cohort of MMAF was lower compared with the oligoasthenospermia pool (p = 0.033 and p = 0.020, respectively), while no statistical differences were observed in the neonatal outcomes.
UNASSIGNED: The current study presented decreased embryo developmental potential and compromised clinical outcomes in the MMAF cohort. These findings may provide clinicians with evidence to support genetic counseling and clinical guidance in specific patients with MMAF.
UNASSIGNED: A total of 38 patients with MMAF treated at an academic reproductive center between January 2014 and July 2022 were evaluated in the current retrospective cohort study and followed up until January 2023. Propensity score matching was used to adjust for the baseline clinical characteristics of the patients and to create a comparable control group. The genetic pathogenesis of MMAF was confirmed by whole exome sequencing. The main outcomes were the embryo developmental potential, the cumulative pregnancy rate (CLPR), and the cumulative live birth rate (CLBR).
UNASSIGNED: Pathogenic variants in known genes of DNAH1, DNAH11, CFAP43, FSIP2, and SPEF2 were identified in patients with MMAF. Laboratory outcomes, including the fertilization rate, 2PN cleavage rate, blastocyst formation rate, and available blastocyst rate, followed a trend of decline in the MMAF group (p < 0.05). Moreover, according to the embryo transfer times and complete cycles, the CLPR in the cohort of MMAF was lower compared with the oligoasthenospermia pool (p = 0.033 and p = 0.020, respectively), while no statistical differences were observed in the neonatal outcomes.
UNASSIGNED: The current study presented decreased embryo developmental potential and compromised clinical outcomes in the MMAF cohort. These findings may provide clinicians with evidence to support genetic counseling and clinical guidance in specific patients with MMAF.
摘要：
■精子鞭毛（MMAF）的多种形态异常以异常的鞭毛表型为特征，这是一种特殊的弱精子症。先前的研究报道，与没有MMAF的患者相比，MMAF的患者在受精率和临床妊娠率方面具有可比性；然而，其他人有矛盾的意见。MMAF患者的辅助生殖技术（ART）结果仍然存在争议和争议。
在目前的回顾性队列研究中，对2014年1月至2022年7月期间在学术生殖中心接受MMAF治疗的38例患者进行了评估，并随访至2023年1月。倾向评分匹配用于调整患者的基线临床特征并创建可比的对照组。通过全外显子组测序证实了MMAF的遗传发病机制。主要结果是胚胎发育潜力，累积妊娠率（CLPR），和累计活产率(CLBR)。
■在MMAF患者中发现了DNAH1，DNAH11，CFAP43，FSIP2和SPEF2的已知基因中的致病变异。实验室结果,包括受精率，2PN卵裂率，囊胚形成率,和可用的胚泡率，MMAF组呈下降趋势(p<0.05)。此外，根据胚胎移植时间和完整周期，与少弱精子症池相比，MMAF队列中的CLPR较低（分别为p=0.033和p=0.020），而新生儿结局无统计学差异。
■目前的研究显示MMAF队列中胚胎发育潜能下降，临床结局受损。这些发现可能为临床医生提供证据，以支持特定MMAF患者的遗传咨询和临床指导。
在目前的回顾性队列研究中，对2014年1月至2022年7月期间在学术生殖中心接受MMAF治疗的38例患者进行了评估，并随访至2023年1月。倾向评分匹配用于调整患者的基线临床特征并创建可比的对照组。通过全外显子组测序证实了MMAF的遗传发病机制。主要结果是胚胎发育潜力，累积妊娠率（CLPR），和累计活产率(CLBR)。
■在MMAF患者中发现了DNAH1，DNAH11，CFAP43，FSIP2和SPEF2的已知基因中的致病变异。实验室结果,包括受精率，2PN卵裂率，囊胚形成率,和可用的胚泡率，MMAF组呈下降趋势(p<0.05)。此外，根据胚胎移植时间和完整周期，与少弱精子症池相比，MMAF队列中的CLPR较低（分别为p=0.033和p=0.020），而新生儿结局无统计学差异。
■目前的研究显示MMAF队列中胚胎发育潜能下降，临床结局受损。这些发现可能为临床医生提供证据，以支持特定MMAF患者的遗传咨询和临床指导。
