Vol 86, No 5 (2015)
ARTICLES
Chromosomal aberrations – the cause of spontaneous abortions
Dorota Rabiega-Gmyrek, Tomasz Olejniczak, Joanna Niepsuj-Biniaś, Bogna Guglas-Bochyńska, Paweł Jachowski, Anna Latos-Bieleńska, Tomasz Opala
DOI: 10.17772/gp/2422
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Ginekol Pol 2015;86(5).
Vol 86, No 5 (2015)
ARTICLES
Abstract
The genetic factor remains the most frequent cause of spontaneous abortions. Examination of the fetal tissue from
spontaneous miscarriages shows that 75% of them were caused by abnormal karyotype. Other reasons, albeit
rare, included submicroscopic genomic rearrangements, monogenic diseases, and polygenic inheritance disorders
of the embryo.
Objective: The aim of the study was to analyze the incidence of chromosomal aberrations in material from the
miscarriage.
Material and methods: The study included 47 samples of miscarriage material from 47 women. Fluorescent
hybridization in-situ (FISH) was used for genetic examination.
Results: Chromosomal abnormalities were diagnosed in 72% of the samples, with trisomy 21 (25.5%), trisomy 16
(17%), and trisomy 18 (12.8 %) as the most common. An abnormal number of copies of chromosome 18,21,22,
indicating the coexistence of trisomy 18,21,22, was detected in 1 patient. It was another miscarriage in case of 14
subjects (29.8%).
Conclusions: Chromosomal aberrations were diagnosed in the majority of fetal tissue samples from spontaneous
miscarriages. More than one chromosomal aberration in a single embryo is an extremely rare occurrence. Miscarriage
due to chromosomal aberrations occurred in the vast majority of women >35 years of age.
Abstract
The genetic factor remains the most frequent cause of spontaneous abortions. Examination of the fetal tissue from
spontaneous miscarriages shows that 75% of them were caused by abnormal karyotype. Other reasons, albeit
rare, included submicroscopic genomic rearrangements, monogenic diseases, and polygenic inheritance disorders
of the embryo.
Objective: The aim of the study was to analyze the incidence of chromosomal aberrations in material from the
miscarriage.
Material and methods: The study included 47 samples of miscarriage material from 47 women. Fluorescent
hybridization in-situ (FISH) was used for genetic examination.
Results: Chromosomal abnormalities were diagnosed in 72% of the samples, with trisomy 21 (25.5%), trisomy 16
(17%), and trisomy 18 (12.8 %) as the most common. An abnormal number of copies of chromosome 18,21,22,
indicating the coexistence of trisomy 18,21,22, was detected in 1 patient. It was another miscarriage in case of 14
subjects (29.8%).
Conclusions: Chromosomal aberrations were diagnosed in the majority of fetal tissue samples from spontaneous
miscarriages. More than one chromosomal aberration in a single embryo is an extremely rare occurrence. Miscarriage
due to chromosomal aberrations occurred in the vast majority of women >35 years of age.
Keywords
chromosomal aberration / miscarriages / chorion /
Title
Chromosomal aberrations – the cause of spontaneous abortions
Journal
Ginekologia Polska
Issue
Vol 86, No 5 (2015)
Page views
2224
Article views/downloads
4553
DOI
10.17772/gp/2422
Bibliographic record
Ginekol Pol 2015;86(5).
Keywords
chromosomal aberration / miscarriages / chorion /
Authors
Dorota Rabiega-Gmyrek
Tomasz Olejniczak
Joanna Niepsuj-Biniaś
Bogna Guglas-Bochyńska
Paweł Jachowski
Anna Latos-Bieleńska
Tomasz Opala
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