Carpinello Olivia J, Marinaro Jessica, Hill Micah J, Decherney Alan H, Devine Kate, Chason Rebecca
Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland.
MedStar Georgetown University Hospital, Department of Urology, Washington, D.C.
F S Rep. 2021 Jun 11;2(3):300-307. doi: 10.1016/j.xfre.2021.06.001. eCollection 2021 Sep.
To examine the outcomes of in vitro fertilization with intracytoplasmic sperm injection (IVF-ICSI) in couples in whom the male partner has a karyotypic abnormality or Y chromosome microdeletion (YCM).
Retrospective cohort.
Single infertility center.
Couples treated with IVF-ICSI from January 2014 to April 2019 with male factor infertility, sperm concentration of <5 × 10 sperm/mL, and results for karyotype and/or YCM panel.
In vitro fertilization with intracytoplasmic sperm injection.
In couples in whom the male partner had a karyotypic abnormality or YCM: live birth rate/ongoing pregnancy rate, lack of partner sperm for fertilization, complete fertilization failure, cycle cancellation, and no embryos for transfer. The prevalence of karyotypic abnormalities and YCMs in the IVF population was calculated.
The live birth rate/ongoing pregnancy rate for those using partner sperm was 51.4% per transfer. However, 8.5% of cycles that intended to use partner sperm and 22.2% of cycles that intended to use surgically extracted partner sperm had no sperm available. Of cycles that created embryos with partner sperm, 12.5% had no embryo to transfer. The prevalence of karyotypic abnormalities was similar to previous reports (6.0%), while that of YCMs was lower (4.4%). Azoospermia factor a and b mutations were not represented in this population.
It is reasonable to attempt IVF-ICSI with partner sperm in patients with genetic causes of male infertility. Patients should be counseled regarding the possibility of no sperm being available from the male partner, poor/failed fertilization, and genetic implications for potential offspring. Contingency plans, including IVF with donor sperm backup or oocyte cryopreservation, need to be made for these scenarios.
研究男性伴侣存在染色体核型异常或Y染色体微缺失（YCM）的夫妇接受卵胞浆内单精子注射体外受精（IVF-ICSI）的结局。
回顾性队列研究。
单一不孕不育中心。
2014年1月至2019年4月因男性因素不孕、精子浓度<5×10⁶精子/mL且有染色体核型和/或YCM检测结果而接受IVF-ICSI治疗的夫妇。
卵胞浆内单精子注射体外受精。
男性伴侣存在染色体核型异常或YCM的夫妇：活产率/持续妊娠率、缺乏用于受精的伴侣精子、完全受精失败、周期取消以及无胚胎可供移植。计算IVF人群中染色体核型异常和YCM的患病率。
使用伴侣精子的患者每次移植的活产率/持续妊娠率为51.4%。然而，8.5%打算使用伴侣精子的周期以及22.2%打算使用手术提取的伴侣精子的周期没有可用精子。在使用伴侣精子产生胚胎的周期中，12.5%没有胚胎可供移植。染色体核型异常的患病率与既往报道相似（6.0%），而YCM的患病率较低（4.4%）。该人群中未出现无精子症因子a和b突变。
对于男性不育遗传原因的患者，尝试使用伴侣精子进行IVF-ICSI是合理的。应向患者咨询男性伴侣无精子可用、受精不良/失败以及对潜在后代的遗传影响的可能性。需要针对这些情况制定应急计划，包括备用供精IVF或卵母细胞冷冻保存。
