Expectant management and live birth outcomes for male balanced-translocation carriers: Two case reports and a literature review

RATIONALE: 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. PATIENT CONCERNS: A 32-year-old and a 28-year-old man presented at the clinic with diagnoses of infertility following spontaneous abortions by their wives. DIAGNOSIS: Both patients had normal semen diagnosed by routine semen analysis and underwent cytogenetic diagnoses. INTERVENTIONS: Following genetic counseling and informed consent, both couples voluntarily chose expectant management with natural conception. OUTCOMES: 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. LESSONS: 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.