Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples with the history of spontaneous abortion (diagnosed blighted ovum) were selected and introduced into this survey during 2007-2012 at Medical Genetics department of Mashhad University of Medical Sciences. Giemsa banding technique was used to search for chromosomal balanced translocations. Demographic assessment has not shown any age difference between blighted ovum suffering couples and general population. Consanguineous marriages in blighted ovum suffering couples was significantly higher (P value <0.001) than non-consanguineous marriages (68.5% versus 31.5%), while in general population 62% of were non-consanguineous. The incidences of balanced chromosomal rearrangements as well as the rate of chromosome 9 inversion were 8.3 percent each, in non-consanguineous Blighted ovum suffering couples and the remaining (83.4%) showed normal karyotypes. There was no chromosome 9 inversion in consanguineous blighted ovum suffering couples and the incidence of balanced chromosomal rearrangements was 2.3%. With regard to relatively low incidence of balanced chromosomal rearrangements in consanguineous couples with blighted ovum, it would be reasonable to suggest that single gene determinants may play an important role in such pregnancy complications rather than chromosomal disorders.
Keywords: Blighted ovum; chromosomal rearrangement; consanguinity.