open access

Vol 86, No 5 (2015)
ARTICLES
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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
·
Ginekol Pol 2015;86(5).

open access

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.
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Keywords

chromosomal aberration / miscarriages / chorion /

About this article
Title

Chromosomal aberrations – the cause of spontaneous abortions

Journal

Ginekologia Polska

Issue

Vol 86, No 5 (2015)

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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