Pregnancy outcome when both members of a couple have balanced translocations

Abstract

Couples in which one partner is the carrier of a balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Pregnancies in which both partners carry balanced translocations are uncommon; therefore, only limited information regarding risk figures is available. We present a couple in which both members had a balanced translocation and discuss their pregnancy outcomes. A couple had three first-trimester spontaneous abortions at 12, 10, and 8 weeks' gestation, respectively. Both partners were found to be carriers of balanced autosomal translocations. The mother had a Robertsonian translocation with the karyotype 45,XX,t(13q14q). The father had a reciprocal translocation with a 46,XY,t(1;4)(q32;q25) karyotype. There was no information regarding the karyotype of the patient's first-born child with a previous partner. The patient's first-born child with her current partner carried a double balanced translocation karyotype of 45,XX,t(13;14)t(1;4). Their second and third children both had a 45,XX,t(13q14q) karyotype. Couples in which both members have a balanced translocation are at increased risk for adverse pregnancy and fetal outcomes, but precise information regarding risk estimates for this rare circumstance is limited. Genetic counseling of such couples therefore presents a unique challenge.