Incidence and spectrum of chromosomal abnormalities detected in married couples with early losses of pregnancy

Веропотвелян, М. П.; Шаповаленко, Л. Г.; Саваровська, О. С.

doi:10.18370/2309-4117.2017.35.54-60

Cited by 3 publications

(1 citation statement)

References 33 publications

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“…Х ромосомна патологія (ХП) представлена великою групою кількісних (трисомії, моносомії, триплоїдії, тетраплоїдії) або структурних (транслокації, делеції, дуплікації, інверсії, тощо) змін генетичного матеріалу; хромосомні аномалії частіше виникають de novo, але існують варіанти, коли деякі зміни можуть бути успадковані [20]. Частота і спектр ХП людини різняться за результатами досліджень різних груп і матеріалів: серед дорослих, дітей, немовлят, плодів, абортного матеріалу, передімплантаційних генетичних досліджень тощо [6,14,18,19,[24][25][26]28]. До однієї з найпоширеніших хромосомних аномалій належить синдром Дауна (CД) [1].…”

Section: оригінальні дослідженняunclassified

Results of complex prenatal examinations in cases of chromosome 21 imbalance in the fetus

Gordienko,

Nikitchina,

Vashchenko

et al. 2023

UJPP

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Purpose - to characterize the cases of chromosome 21 imbalance in fetuses of high-risk pregnant women, to describe prenatal cytogenetic diagnosis and associated ultrasound findings - structural anomalies and soft markers. Materials and methods. The results of complex prenatal examination of high-risk pregnant women in the Department of Fetal Medicine of the SI “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine” during 5 years period were analyzed: results of ultrasound and cytogenetic exams of 200 cases of chromosome 21 imbalance in the fetus. Results. Among 4,748 prenatal cytogenetic testing of fetuses of high-risk women abnormal karyotypes with an imbalance of chromosome 21 were found in 200 (4.21%) cases. In the majority of cases Down's syndrome (DS) was diagnosed (n=199; 99.5%), in 1 (0.2%) case - deletion of chromosome 21. In DS, regular trisomy of chromosome 21 was found in 191 (95.97%) cases, translocant forms - in 5 (2.51%) cases, in 1 (0.5%) case there was there was an additional sex chromosome, and in 1 (0.5%) - a variant with two cell lines. In 1 (0.5%) case limited placental mosaicism was present, with a false negative result that required verification by the analysis of fetal lymphocytes obtained during cordocentesis. Advanced maternal age (≥35 years) was registered in less than half of fetal DS cases (n=92/199, 46.2%). The main indications for invasive procedures and their types are described. It was demonstrated that ultrasound findings (structural anomalies and/or “soft” markers for chromosomal pathology) were present in 78% of fetal chromosome 21 imbalance; nevertheless in 22% ultrasound findings were absent, and the indication for invasive procedures were advanced maternal age or isolated changes of biochemical markers. Conclusions. Chromosome 21 imbalance in fetuses is mainly represented by trisomy, cases of chromosome 21 deletion are extremely rare. Targeted ultrasound examination is important for screening and diagnosis of fetal chromosomal abnormalities. High-risk pregnant women shouldn’t be reassured in case of “normal” ultrasound exam results. Under certain conditions, it is advisable to perform placental biopsy in the II trimester of pregnancy, but only in specialized tertiary centers or departments. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

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Section: оригінальні дослідженняunclassified

Results of complex prenatal examinations in cases of chromosome 21 imbalance in the fetus

Gordienko,

Nikitchina,

Vashchenko

et al. 2023

UJPP

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Features of the state of the chromosomal apparatus of spouses with disorders of reproductive function

2019

The Journal of v. N. Karazin Kharkiv National University, Series "Biology"

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Chromosomal anomalies are the most frequent reason of infertility in the world. This is one of the reasons for abortion in the early stages, stillbirth or the birth of a child with multiple malformations. The general level of chromosomal aberrations in the population is 0.5-3.0 %, while among people with impaired fertility this level ranges from 2.9 to 14%. The results of karyotyping of 1024 patients with problems of reproduction function, which appealed to the Center of Human Reproduction «Clinic of Professor Feskov O.» in the period from 2009 to 2014, were presented in the article. For the cytogenetic research of patients, metaphase chromosomes were used. Samples were obtained from culture of peripheral blood according to standard technique. For staining of chromosomes slides GTG-method and CBG-method were used. Analysis of slides was carried out in accordance with the International system of the cytogenetic nomenclature. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 6.05% cases, in population this value is 0.5–3.0 %. This increase in the number of changes in karyotype in patients with infertility in comparison with the population level is statistically significant (р˂0.05). There are numerical chromosome abnormalities, structural chromosome rearrangements and chromosomes polymorphisms in the patients. Among identified changes the chromosomes polymorphisms are more frequent, it total 2.4% in our group. Among them 1.25% cases of increase in length of satellite on the short arm of acrocentric chromosomes, 0.67% – increase in length of centromeric heterochromatin, 0.38% – increase in length of heterochromatin on the long arm of chromosomes 9, 16, Y. Structural chromosome rearrangements were found in 2.11% patients, among them inversions – 0.86%, Robertsonian translocations and reciprocal translocations – 0.58% і 0.1% respectively, insertions – 0.1%, additional material of unknown origin – 0.1% and marker chromosomes – 0.1%. Numerical chromosomes abnormalities have been detected in 1.63% cases (17 patients out of 1042) – among them Klinefelter syndrome – 0.67% patients, and cases with different mosaic karyotype for sex chromosomes – 0.96%. So it is recommended to carry out karyotyping of couples with infertility.

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Change in the karyotype of the embryo as a cause of spontaneous abortion in the first trimester

Feskov¹,

Feskova²,

Zhylkova³

et al. 2021

The Journal of v. N. Karazin Kharkiv National University, Series "Biology"

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Currently, one of the most actual health problems in the world is the problem of a spontaneous abortion. Chromosomal abnormalities are one of the main reasons of early abortion, stillbirth or the birth of a child with multiple congenital malformations. The results of karyotyping of chorionic villi from 149 patients with diagnoses of "undeveloped pregnancy" or "anembryonia" were presented in the article. Metaphase chromosomes were used for cytogenetic research of the embryos. The samples were obtained from cytotrophoblast cells of chorionic villi by the "direct" method, without culture, according to standard technique. A GTG-method was used for staining the chromosome slides. The cytogenetic study of chorionic villi makes it possible to identify the karyotype abnormalities, which caused the fading of pregnancy, since the chorion karyotype corresponds to the embryo karyotype The slide analysis was carried out in accordance with the international system of the human cytogenetic nomenclature. As a result of the cytogenetic study, changes in the karyotype were revealed in 53.39 % of the samples, namely, genomic mutations – aneuploidy and polyploidy. Among the aneuploidies, we found the embryos with trisomy in the autosomes 5, 13, 16, 18, 20, 21, and 22. In addition, the karyotypes with trisomy and monosomy of the X chromosome, as well as the male karyotypes with an additional copy of the X or Y chromosome were present The polyploids in the study group were represented by triploid and tetraploid karyotypes of embryos. All the above mentioned karyotype disorders were found in both full and mosaic forms. Further, some non-developing embryos contained a chimeric karyotype - "chi46,XX/46,XY". In the study group, the prevailing were the embryos with a tetraploid karyotype in a mosaic form (6.71 %), Klinefelter syndrome in a mosaic form (6.04 %), and a triploid karyotype in a mosaic form (6.04 %). A statistically significant increase in the incidence of stillbirths with mosaic tetraploid karyotype was found in 2020. The share of this pathology was 25. %. Currently, there is no reliable information on the effect of the SARS-CoV-2 virus on the embryonic genome. Nevertheless, it is known that members of the coronavirus family are responsible for serious complications during pregnancy - pregnancy fading, fetal growth retardation, premature birth, death of the mother or fetal death in the neonatal period. In this connection, we can hypothesize that mitotic disorders and, as a consequence, appearance of embryos with a tetraploid karyotype seem to be associated with a mild SARS-CoV-2 infection that occurs in pregnant women in an inconspicuous form.

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Incidence and spectrum of chromosomal abnormalities detected in married couples with early losses of pregnancy

Cited by 3 publications

References 33 publications

Results of complex prenatal examinations in cases of chromosome 21 imbalance in the fetus

Results of complex prenatal examinations in cases of chromosome 21 imbalance in the fetus

Features of the state of the chromosomal apparatus of spouses with disorders of reproductive function

Change in the karyotype of the embryo as a cause of spontaneous abortion in the first trimester

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