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. 2018 Oct-Dec;11(4):337-342.
doi: 10.4103/jhrs.JHRS_132_17.

A Study on Balanced Chromosomal Translocations in Couples with Recurrent Pregnancy Loss

Pritti K Priya  1 , Vineet V Mishra  1 , Priyankur Roy  1 , Hetvi Patel  1
Affiliations

A Study on Balanced Chromosomal Translocations in Couples with Recurrent Pregnancy Loss

Pritti K Priya et al. J Hum Reprod Sci. 2018 Oct-Dec.

Abstract

Background: Recurrent pregnancy loss (RPL) is an obstetric complication that affects couples in their reproductive age. Chromosomal abnormalities, mainly balanced rearrangements, could commonly be present in couples with RPL.

Aim: The purpose of this study is to evaluate the contribution of chromosomal abnormalities and balanced reciprocal translocations, in particular occurring in either of the partners, resulting in RPL.

Materials and methods: A retrospective cytogenetic study was carried out on 152 individuals (76 couples) having a history of RPL. The cases were analyzed using G-banding and fluorescence in situ hybridization, wherever necessary.

Results: Chromosomal abnormalities were observed in 3.2% of the total RPL cases, of which balanced translocations were observed in 4 (80%) individuals and marker chromosome was detected in 1 (20%) individual. All balanced translocations comprised reciprocal translocations, and no cases of Robertsonian translocations were detected in our study. Among reciprocal translocation carriers, three were male and one was female. Polymorphic variants were noted in 8 (5.3%) individuals.

Conclusions: Chromosomal analysis is an important etiological investigation in couples with RPL. Balanced translocations are the most commonly detected chromosomal abnormalities in such couples. Thus, these couples are the best candidates for offering prenatal genetic diagnosis, thereby ensuring a better reproductive outcome.

Keywords: Chromosomal abnormalities; reciprocal translocation; recurrent miscarriage.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Karyotype showing balanced translocation in female: 46,XX,t(2;9)(q13;p13). (b) Schematic diagram of partial karyogram
Figure 2
Figure 2
(a) Karyotype showing balanced translocation in male: 46,XY,t(15;20)(q22.3;q13.1). (b) Schematic diagram of partial karyogram
Figure 3
Figure 3
(a) Karyotype showing balanced translocation in male: 46,XY,t(15;20)(q22.3;q13.1). (b) Schematic diagram of partial karyogram
Figure 4
Figure 4
(a) Karyotype showing balanced translocation in male: 46,XY,der(1)(pter->q24.3::q32.1->qter),der(3)(4qter->4q12::1q24.3->1q31.1::3p26.2->3qter),der(4)t(3;4)(p26.2;q12). (b)FISH results with whole-chromosome painting (WCP) for chromosomes 1, 3, and 4, and subtelomeric probes 4pter and 3pter along with RP11-95E11 in 3p26.3
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