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.