Chromosomal Study of Couples with the History of Recurrent Spontaneous Abortions with Diagnosed Blightded Ovum

Document Type : Original Article

Authors
1 Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2 Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Abstract
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.
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