scholarly journals Pregnancy: The roles of oligomenorrhoea and fetal chromosomal abnormalities in spontaneous abortions

1996 ◽  
Vol 11 (10) ◽  
pp. 2304-2305 ◽  
Author(s):  
I. Hasegawa ◽  
K. Takakuwa ◽  
K. Tanaka
Author(s):  
Inusha Panigrahi ◽  
Mohd. Shariq ◽  
Ravi Thakur ◽  
Subhas Saha ◽  
Gurjit Kaur

Purpose: Evaluation of recurrent spontaneous abortions (RSA) can be challenging for a Obstetrician. In case of early first trimester abortions, chromosomal abnormalities can be identified as an important cause. We analysed the RSA cases followed up and diagnosed in the Genetic Clinic or Genetic Lab of 2 hospitals in the region. Methods: Those couples with 3 or more spontaneous abortions were included in the analysis. Karyotyping was one using standard protocol with G-banding and reporting as per ISCN guidelines. Results: Of 97 RSA couples, 20 showed chromosomal abnormalities, and 15 of these had balanced chromosomal rearrangements. The age ranged from 22 years to 37 years, and the median number of abortions was 4. Complex chromosomal rearrangement was seen in 2 couples, in one partner. The spectrum of chromosomal anomalies in couples with RSA is discussed here. Conclusions: Frequency of chromosomal abnormalities in RSA was higher in present study compared to previous studies. Reciprocal translocations were commonest abnormality.


Author(s):  
Т.В. Никитина ◽  
Д.И. Жигалина ◽  
Е.А. Саженова ◽  
Е.Н. Толмачева ◽  
Н.А. Скрябин ◽  
...  

Привычное невынашивание беременности (ПНБ) - это потеря двух и более беременностей подряд, затрагивающая до 5% супружеских пар в популяции. Средняя частота хромосомных аномалий у спонтанных абортусов человека составляет около 50%, и если считать возникновение хромосомных аномалий случайным событием, то, независимо от кариотипа первого выкидыша, последующий в половине случаев должен быть цитогенетически нормальным. Целью данной работы было определить, существует ли закономерная повторяемость хромосомной конституции у спонтанных абортусов от одной супружеской пары. Прокариотипировано 108 случаев повторной гибели эмбриона в 51 семье. Кариотип абортусов был получен с использованием комбинации нескольких методов: стандартного цитогенетического анализа, сравнительной геномной гибридизации (CGH), флуоресцентной гибридизации in situ (FISH) и сравнительной геномной гибридизации на микрочипах (aCGH) (73, 29, 3 и 3 образца соответственно). Среди обследованных женщин 35% (18/51) были здоровы, а 59% (30/51) имели заболевания женской половой сферы, ассоциированные с ПНБ. Отношение шансов (OR) потери второго эмбриона с таким же кариотипом (нормальным или аномальным), как и у первого абортуса, составило 6,98 (95% CI: 2,04-23,88; p = 0,0013). У 19 женщин из 51 (37%) все погибшие зародыши были с нормальным кариотипом, причем у 7 из этих женщин не было выявлено патологии, обусловливающей невынашивание беременности. Оба выкидыша с аномалиями кариотипа имели 35% (18/51) женщин, из них у 6 женщин аномалии эмбрионов представляли собой повторные трисомии по различным хромосомам (гетеротрисомии), еще в одной семье оба абортуса имели трисомию 16. Одиннадцать случаев повторной гибели эмбрионов оказались сочетанием различных типов аномалий. Средний возраст женщин с двумя трисомными выкидышами оказался выше, чем у женщин с двумя выкидышами с различными типами аномалий (33,1 ± 3,45 и 28,7 ± 5,78 года соответственно, p = 0,025). Вероятность того, что последующий абортус будет иметь такой же кариотип (нормальный или аномальный), что и предыдущий, повышена. Повторные выкидыши с нормальным кариотипом могут быть обусловлены наличием у женщин этиологических факторов невынашивания, не диагностируемых стандартными методами обследования. Некоторые пациентки с повторными трисомиями абортусов, возможно, имеют более высокий риск хромосомного нерасхождения, чем другие женщины в том же возрасте. Сочетание у абортусов от одной женщины аберраций различных типов скорее всего случайно: маловероятно, чтобы наличие конкретного типа аномалии могло быть связано с повышенным риском возникновения другого типа аномалий, так как их формирование обусловлено различными механизмами. Introduction. Recurrent pregnancy losses is the loss of two or more consecutive pregnancies, it affects up to 5% of couples in the population. The average frequency of chromosomal abnormalities in human spontaneous abortions is about 50%, and if the chromosomal abnormalities are random events, the subsequent abortion should be cytogenetically normal in half of the cases, regardless of the karyotype of the previous miscarriage. The aim of this study was to determine is there a regular occurrence of the chromosome constitution in spontaneous abortions from the same woman. Materials and methods. A total of 108 cases of recurrent embryonic death in 51 families were studied. The karyotype of abortion was obtained using a combination of methods: standard cytogenetic analysis (73), CGH (29), FISH and aCGH (3 samples each). 35% (18/51) of women were healthy, 59% (30/51) had diseases associated with miscarriage. Results. The odds ratio (OR) of the loss of the second embryo with the same karyotype (normal or abnormal), as in the first abortion, was 6.98 (95% CI: 2.04-23.88, p = 0.0013). In 19 women from 51 (37%), all the dead embryos had normal karyotypes, and 7 of these women did not have a pathology that caused miscarriage. Among women with RM 35% (18/51) had both miscarriages with abnormal karyotypes. Of these, in 6 women, embryo anomalies were repeated trisomy of different chromosomes (heterotrisomies), in one family both abortions had trisomy 16. Eleven cases of repeated death of embryos proved to be a combination of different types of anomalies. The average age of women with two trisomic miscarriages was higher than in women with miscarriages with different types of anomalies (33.1 ± 3.45 and 28.7 ± 5.78 years, respectively, p = 0.025). Conclusions. The likelihood for subsequent abortion to be of the same karyotype (normal or abnormal), as the previous one, is increased. Repeated miscarriages with normal karyotypes may be due to the women’s etiological factors of miscarriage that were not diagnosed by standard survey methods. Some patients with recurrent trisomic abortions may have an increased risk of chromosomal nondisjunction than other women at the same age. The combination of abortions with different types of abnormalities from one woman is most likely random: it is unlikely that the presence of a specific type of anomaly could be associated with an increased risk of another type of anomaly, because different mechanisms are involved in their formation.


2019 ◽  
Vol 47 (3) ◽  
pp. 1169-1178 ◽  
Author(s):  
Rui Zhang ◽  
Xiangbin Chen ◽  
Dong Wang ◽  
Xuan Chen ◽  
Chao Wang ◽  
...  

Objective High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities including aneuploidy. This study provides evidence for the prevalence of chromosomal abnormalities in target populations. Methods A total of 160 samples, including 83 high-risk pregnancies, 37 spontaneous abortions, and 40 suspected genetic disorders, were analyzed by CNV-seq. Relationships between the incidence of these chromosomal abnormalities and risk factors (e.g. advanced maternal age, abnormal pregnancy history, and family history of congenital disease) were further analyzed by subgroup. Results A total of 37 (44.6%) high-risk pregnancies, 25 (67.6%) spontaneous abortions, and 22 (55%) suspected genetic disorders had chromosomal abnormalities including aneuploidy and CNVs. There was an increased risk association between the prevalence of aneuploidy and pathogenic-relevant CNV in the fetus or abortive tissue and advanced maternal age. Moreover, a family history of congenital disease was also positively correlated with fetal chromosomal abnormalities in high-risk pregnancies. Conclusion A relatively high prevalence of chromosomal abnormalities was detected in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders, indicating the importance of CNV detection in such populations.


2005 ◽  
Vol 53 (3) ◽  
pp. 375-380 ◽  
Author(s):  
Svetlana G. Vorsanova ◽  
Alexei D. Kolotii ◽  
Ivan Y. Iourov ◽  
Viktor V. Monakhov ◽  
Elena A. Kirillova ◽  
...  

Numerical chromosomal imbalances are a common feature of spontaneous abortions. However, the incidence of mosaic forms of chromosomal abnormalities has not been evaluated. We have applied interphase multicolor fluorescence in situ hybridization using original DNA probes for chromosomes 1, 9, 13, 14, 15, 16, 18, 21, 22, X, and Y to study chromosomal abnormalities in 148 specimens of spontaneous abortions. We have detected chromosomal abnormalities in 89/148 (60.1%) of specimens. Among them, aneuploidy was detected in 74 samples (83.1%). In the remaining samples, polyploidy was detected. The mosaic forms of chromosome abnormality, including autosomal and sex chromosomal aneuploidies and polyploidy (31 and 12 cases, respectively), were observed in 43/89 (48.3%) of specimens. The most frequent mosaic form of aneuploidy was related to chromosome X (19 cases). The frequency of mosaic forms of chromosomal abnormalities in samples with male chromosomal complement was 50% (16/32 chromosomally abnormal), and in samples with female chromosomal complement, it was 47.4% (27/57 chromosomally abnormal). The present study demonstrates that the postzygotic or mitotic errors leading to chromosomal mosaicism in spontaneous abortions are more frequent than previously suspected. Chromosomal mosaicsm may contribute significantly to both pregnancy complications and spontaneous fetal loss.


2018 ◽  
Vol 67 (2) ◽  
pp. 70-78 ◽  
Author(s):  
Alexandr A. Bezmenko ◽  
Natalya D. Kislitsyna

The number of spontaneous abortions continues to increase despite the new methods of diagnosis and treatment. A total of 15%–23% of confirmed pregnancies end in spontaneous miscarriages. Of the causes of reproductive losses, approximately 7% are chromosomal abnormalities, and the remaining are conditionally preventable. This article discusses the role of intestinal dysbiosis in the pathogenesis of miscarriage. Focus on this issue and the evaluation of the effectiveness of the treatment of gastrointestinal tract diseases may be a primary way to prevent early reproductive losses.


Sign in / Sign up

Export Citation Format

Share Document