Fan Haitao, Wang Xiuyan, Yang Xiao, Zheng Hongshu, Feng Shuqiang
Department of Urology, The Second Hospital of Jilin University, Changchun, China.
Medicine (Baltimore). 2020 Jun 26;99(26):e20894. doi: 10.1097/MD.0000000000020894.
Couples with male balanced-translocation carriers may experience recurrent pregnancy loss (RPL). Although the expectant management of RPL has developed over many years, genetic counseling for RPL couples with male balanced-translocation carriers remains challenging. Here, we describe the expectant management of 2 male carriers of balanced translocations.
A 32-year-old and a 28-year-old man presented at the clinic with diagnoses of infertility following spontaneous abortions by their wives.
Both patients had normal semen diagnosed by routine semen analysis and underwent cytogenetic diagnoses.
Following genetic counseling and informed consent, both couples voluntarily chose expectant management with natural conception.
One couple experienced 2 natural pregnancies, the first of which ended in spontaneous abortion and the second produced a phenotypically normal infant. The other couple's first pregnancy resulted in a fetus with a balanced translocation confirmed by amniocentesis and cytogenetic analysis.
Expectant management with natural conception may be an alternative to genetic counseling in male balanced-translocation carriers with RPL, especially those who are reluctant to undergo preimplantation diagnosis.
携带平衡易位的男性的夫妇可能会经历反复流产（RPL）。尽管多年来RPL的期待管理已经有所发展，但对于携带平衡易位的男性的RPL夫妇的遗传咨询仍然具有挑战性。在此，我们描述了2例平衡易位男性携带者的期待管理情况。
一名32岁和一名28岁男性因妻子自然流产后被诊断为不育前来就诊。
通过常规精液分析诊断，两名患者精液均正常，并进行了细胞遗传学诊断。
经过遗传咨询并获得知情同意后，两对夫妇均自愿选择自然受孕的期待管理。
一对夫妇经历了2次自然怀孕，第一次以自然流产告终，第二次生下了一名表型正常的婴儿。另一对夫妇的第一次怀孕经羊水穿刺和细胞遗传学分析证实胎儿存在平衡易位。
对于携带平衡易位的男性的RPL患者，尤其是那些不愿接受植入前诊断的患者，自然受孕的期待管理可能是遗传咨询的一种替代方法。
