Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report

Abstract

INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive
pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural
chromosomal abnormality is an important cause. An unbalanced karyotype in the conceptus of
a couple when one partner has a structural chromosomal abnormality may result in failure to
implant, miscarriage, or pregnancy of a fetus with an unbalanced karyotype.
CASE PRESENTATION: We report a rare case of RSA associated with balanced translocation of
chromosomes. a woman who had four spontaneous abortions, all pregnancy loss happened before
12 weeks of gestation, no other known chronic diseases reported to the family nor medications
taken during pregnancy. The karyotype was 46.XX, t(13p,21p) The abnormal karyotype was not
found in any other chromosomes. Further spectral karyotyping was performed to rule out the
involvement of any other chromosomal aberrations present in the genome.The cytogenetic
analysis of the husband revealed a normal karyotype 46.XY.
CONCLUSION: Couples with more than three miscarriages should be referred to the genetist
for chromosomal analysis for possible hereditary etiology and chromosomal abnormalities
responsible for miscarriages to plan prenatal diagnostics and genetic counseling for subsequent
pregnancies.