Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement

Abstract

Information concerning the prognosis of subsequent pregnancies in patients with reciprocal translocations is limited. This study was performed to determine the percentage success rate with first pregnancies after ascertainment of a carrier status. A total of 2,382 couples with a history of two or more consecutive miscarriages were studied in multicenters. The prevalence of an abnormal chromosome in either partner was examined, and subsequent success rates were compared between cases with and without an abnormal karyotype in either partner. A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, 2,253 couples had a normal karyotype in both partner. Eighty-five (3.6%) had translocations, 13 being Robertsonian translocations. Twenty-nine of the 46 cases (63.0%) who became pregnant with reciprocal translocations in either partner experienced a live birth with natural conception. In contrast, 950 of 1,207 cases (78.7%) with normal chromosomes had successful live births, the difference being significant (P = 0.019). No infant with an unbalanced translocation was found in 29 cases of successful pregnancy following recurrent miscarriage. Pregnancy prognosis was worsened with either maternal or paternal reciprocal translocations. Explanation of the success rate with natural conception should be provided before the subsequent pregnancy after ascertainment of carrier status.

Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations

“…The overall pregnancy loss rate (including all positive chemical pregnancies with no resultant LB) was 18% (6/34). In general, LB rate per biopsy cycle with IVF-PGD (38%) in the present study was lower than what has been reported with expectant management (43%-60%) for most patients (21,(23)(24)(25). In this context, expectant management with no PGD certainly remains an option for translocation carriers.…”

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

“…Among the 2720 RPL couples, 2.24% of carriers had chromosome abnormalities and 2.80% had polymorphisms. Previous studies have reported that 2.5-7.8% of RPL couples were carriers of structural chromosome rearrangements (Stephenson, 1996;Goddijn et al, 2004;Sugiura-Ogasawara et al, 2008), whereas only 0.2% of the general reproductive population has chromosomal rearrangements (Grimm, 2010). The incidence of polymorphic variants was 8.9% in couples with two or more consecutive gestational losses (Campanho et al, 2011).…”

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

“…26 The success figures of PGD should also be compared with what is known on the outcome of natural conceptions in fertile carriers. Sugiura-Ogasawara et al 27 found that of 72 rcp carriers, ascertained by For the successful PGD couples, their first PGD child was mostly born within 1.5 years after the work-up for PGD. This is only half of the time they had the desire for a child before they came to our center.…”