scholarly journals Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui
Keyword(s):  
Genetic Counseling ◽  
Chromosomal Abnormality ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Virtual Library ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Monosomy X ◽  
Products Of Conception

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

The role of fetal chromosomal aberrations in the genesis of recurrent and sporadic miscarriage

2021 ◽  
Vol 20 (1) ◽  
pp. 34-39
Author(s):  
E.V.Kudryavtseva E.V.Kudryavtseva ◽  
◽  
V.V.Kovalev V.V.Kovalev ◽  
I.I.Baranov I.I.Baranov ◽  
I.V.Kanivets I.V.Kanivets ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Key Words Pregnancy ◽  
History Of

Objective. To compare the frequency and nature of embryo/fetus chromosomal abnormalities (CA) in sporadic and recurrent pregnancy loss. Patients and methods. A retrospective cohort study that included 1000 patients with pregnancy loss at 6–12 weeks of gestation. The first group consisted of 681 patients who had their first sporadic miscarriage. The second group consisted of 319 patients who previously had a miscarriage. Chromosomal microarray analysis (CMA) of abortive material was performed. Results. In the first group, various chromosomal abnormalities in the embryo/fetus were detected in 378 (55.5%) samples, in the second group – in 203 (63.5%). The incidence of CA in patients with a history of miscarriage was higher than in sporadic miscarriage, the differences were statistically reliable (p = 0.015). No significant differences were found in the structure of CA. Autosomal trisomies and numerical abnormalities of sex chromosomes were most frequently detected. Conclusion. Chromosomal abnormalities in the embryo are a significant cause of miscarriage, both sporadic and recurrent. Genetic analysis of abortive material is an important component of the examination for choosing further management tactics for patients. CMA is an effective research method when conducting genetic analysis of conception products. Key words: pregnancy loss, preconception planning, recurrent miscarriage, chromosomal abnormalities, chromosomal microarray analysis

The chromosomal microarray analysis of abortive material in pregnancy loss

2020 ◽  
pp. 64-65
Author(s):  
Е.Г. Панченко ◽  
И.В. Канивец ◽  
И.И. Романова ◽  
Ю.К. Киевская ◽  
Е.В. Кудрявцева ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Routine Method ◽  
Study Objective ◽  
Analysis Study ◽  
Products Of Conception ◽  
Study Results

Цель исследования - оценить распространенность и типы хромосомных аномалий (ХА) в абортивном материале за период с 2015 по 2019 гг. Методом хромосомного микроматричного анализа был исследован 2201 образец ДНК, выделенной из абортивного материала при неразвивающейся беременности. ХА были обнаружены в 49,57% случаев, из них анеуплоидии, в том числе нескольких хромосом и мозаичные формы, составляют 79,65%, триплоидия - 10,72%, другие ХА, возможно имеющие клиническое значение, - 8,62%, тетраплоидия - 1,01%. Таким образом, хромосомный микроматричный анализ может быть рекомендован как рутинный метод для поиска несбалансированных ХА в абортивном материале при невынашивании беременности. Study objective is to assess the prevalence and pattern of chromosomal abnormalities (CAs) in products of conception (POC) for the period from 2015 to 2019. Materials and Methods: 2201 samples of POC were studied by the chromosomal microarray analysis. Study Results: CAs were detected in 49.57% of cases, of which aneuploidy, including several chromosomal and mosaic forms, were detected in 79.65%, triploidy - 10.72%, other CAs with possible clinical significance - 8.62%, tetraploidy - 1.01%. Conclusion: chromosomal microarray analysis can be recommended as a routine method for searching of unbalanced CAs in POC.

No Evidence for Increased Prevalence of JAK2 V617F in Women with a History of Recurrent Miscarriage

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5235-5235
Author(s):  
Issa J. Dahabreh ◽  
Amy V. Jones ◽  
Michael Voulgarelis ◽  
Christina Alafakis-Tzannatos ◽  
Stavroula Giannouli ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Miscarriage ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Amplification Refractory Mutation System ◽  
Childbearing Age ◽  
Recurrent Miscarriages ◽  
History Of ◽  
V617f Mutation

Abstract Myeloproliferative neoplasms (MPN) have been associated with increased rates of pregnancy complications. Women with essential thrombocythemia (ET), and, much less frequently, polycythemia vera (PV) present at a childbearing age and it has been reported that up to a third of MPN pregnancies may fail as first trimester miscarriages. A recent study has demonstrated that the JAK2 V617F mutation, seen in nearly all PV cases and half of those with ET, was significantly more common in women with a first unexplained pregnancy loss compared to controls, although the overall incidence was low (1.06% of women with a first unexplained pregnancy loss versus 0.2% in controls, p<0.001). We hypothesized that JAK2 V617F may be further enriched in women who had multiple miscarriages. We studied peripheral blood leukocyte DNA from 389 women who had suffered at least three consecutive spontaneous early miscarriages (<10 weeks gestation) or at least one late pregnancy loss (>10 weeks) by a tetra-primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) assay with a sensitivity of detection of 1% JAK2 V617F. 92% of women had a history of early miscarriage and 14.1% of late miscarriage. Detailed clinical information was available for 230 (59%) cases: the mean age was 35.9 years (standard deviation=5.4; range: 20–50) and the median number of miscarriages was 3 (range: 3–7). Factors known to be associated with recurrent miscarriages were excluded. The JAK2 V617F mutation was not detected in any case, yielding a 95% confidence interval for the prevalence of the mutation ranging from 0 to 0.009 and excluding a 1% prevalence of JAK2 V617F in this population (p=0.038 for the overall population; p=0.057 for early miscarriages only; 2-tailed Clopper-Pearson exact test). Our study therefore demonstrates no enrichment of JAK2 V617F among unselected women with a history of recurrent miscarriages. Although we cannot exclude the possibility of a small, significant excess of V617F over background levels, our findings indicate that a latent maternal JAK2 V617F-positive MPN is an unlikely cause of miscarriage.

Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage

2021 ◽  
Vol 33 (1) ◽  
pp. 3-12
Author(s):  
Margot J. Wyrwoll ◽  
Sabine Rudnik-Schöneborn ◽  
Frank Tüttelmann
Keyword(s):  
Genetic Counseling ◽  
Chromosomal Aberrations ◽  
Recurrent Miscarriage ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Panel ◽  
Genetic Diagnostics ◽  
Infertile Couple ◽  
Recurrent Miscarriages ◽  
Increased Risk ◽  
Infertile Couples

Abstract Around 10–15 % of all couples are infertile, rendering infertility a widespread disease. Male and female causes contribute equally to infertility, and, depending on the definition, roughly 1 % to 5 % of all couples experience recurrent miscarriages. In German-speaking countries, recommendations for infertile couples and couples with recurrent miscarriages are published as consensus-based (S2k) Guidelines by the “Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften” (AWMF). This article summarizes the current recommendations with regard to genetic counseling and diagnostics. Prior to genetic counseling, the infertile couple must undergo a gynecological/andrological examination, which includes anamnesis, hormonal profiling, physical examination and genital ultrasound. Women should be examined for the presence of hyperandrogenemia. Men must further undergo a semen analysis. Based on the overall results, hyper- or hypogonadotropic hypogonadism can be diagnosed in both sexes. Female genetic diagnostics for infertility comprise karyotyping, analysis of the FMR1 premutation and a gene panel including genes associated with congenital hypogonadotropic hypogonadism (CHH) or congenital adrenal hyperplasia. Male genetic diagnostics for infertility comprise karyotyping, screening for AZF microdeletions, CFTR analysis and a gene panel including genes associated with CHH. Also, gene panels are increasingly being used to causally clarify specific phenotypes such as defective sperm morphology/motility or azoospermia. As infertile couples have an increased risk for chromosomal aberrations, a chromosomal analysis should also be offered to both partners prior to undergoing assisted reproductive technology. In couples with recurrent miscarriages, karyotyping is recommended to detect balanced structural chromosomal aberrations.

scholarly journals Analysis of clinikal and morphological features of missed abortions, associated with chromosomal abnormalities of the chorion

2019 ◽  
Vol 21 (2) ◽  
pp. 13-17
Author(s):  
O A Romanova ◽  
V A Pechenikova ◽  
T S Kartashova ◽  
A S Klyukovkina ◽  
V N Ellinidi
Keyword(s):  
Early Pregnancy ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Trisomy 13 ◽  
Missed Abortion ◽  
Chorionic Villi ◽  
Trisomy 16 ◽  
Saint Petersburg

Nowadays the problem of recurrent miscarriage is relevant. 17-20% of all registered pregnancies end with inevitable miscarriages. 80% of them are early pregnancies and in most cases represent missed abortions. Besides, one of the leading cause of missed abortion are chromosomal abnormalities. Analyzed the clinical and anamnestic data of patients, diagnosed with missed abortion during early pregnancy, examined in Saint-Petersburg in 2005-2006 and 2015-2017: patients with normal chorion karyotype and patients with chromosomal abnormalities of the chorion. Revealed that the prevailing chromosomal abnormality is aneuploidy, among all types of aneuploidy the most frequently are trisomy 16, trisomy 13, trisomy 22 and trisomy 21. The structure of aneuploidy has changed in 10-11 years. Now, in comparison with 2005-2006, at missed abortion the trisomy 16 in chorionic villi is found 3.8 times more often, the trisomy 13 is found 2.8 times more often and the trisomy 22 is found twice less often (p

scholarly journals The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

2019 ◽  
Vol 2019 ◽  
pp. 1-11 ◽  
Author(s):  
Chamara S. Paththinige ◽  
Nirmala D. Sirisena ◽  
U. G. I. U. Kariyawasam ◽  
Vajira H. W. Dissanayake
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Congenital Abnormalities ◽  
Chromosomal Abnormalities ◽  
Chromosomal Translocations ◽  
Reciprocal Translocations ◽  
Cytogenetic Testing ◽  
Balanced Translocations

Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectively. A total of 15,864 individuals were tested. Among them, 277 (1.7%) had translocations. There were 142 (51.3%) unbalanced translocations and 135 (48.7%) balanced translocations. Majority (160; 57.8%) were Robertsonian translocations. There were 145 (52.3%) children and adolescents aged less than 18 years with translocations, and 142 (97.9%) were unbalanced translocations. Majority [138 (95.2%)] were referred due to congenital abnormalities, developmental delay, or intellectual disability, and 91 were children with translocation Down syndrome. All adults aged 18 years or above (132) had balanced translocations. Subfertility and recurrent pregnancy loss [84 (63.6%)] and offspring(s) with congenital abnormalities [48 (36.4%)] were the most common indications in this group. Majority (68.2%) in this group were females with reciprocal translocations (55.3%). Chromosomes 21, 14, and 13 were the most commonly involved with rob(14q21q) [72 (26%)], rob(21q21q) [30 (13.7%)], and rob(13q14q) [34 (12.3%)] accounting for 52% of the translocations. Chromosomes 1, 8, 11, and 18 were most commonly involved in reciprocal translocations. The observed high frequency of chromosomal translocations in our cohort highlights the importance of undertaking cytogenetic evaluation and providing appropriate genetic counseling for individuals with the phenotypes associated with these translocations.

scholarly journals RECIPROCAL TRANSLOCATION t (6; 8) (q25-27; q23): CASE REPORT

2020 ◽  
Vol 55 (04) ◽  
pp. 67-68
Author(s):  
Aytakin Hasanova
Keyword(s):  
Reciprocal Translocation ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Intrauterine Death ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Fetal Wastage ◽  
History Of ◽  
Recurrent Abortions

Reciprocal translocations are the most common structural chromosomal abnormalities in humans. In this study, the results of cytogenetic analysis performed on a couple with a reproductive history of three abortions and one intrauterine death referred to our laboratory are presented. Normal karyotype (46, XY) in male and reciprocal translocation 46XX t (6; 8) (q25-27; q23) in female were determined. In about 4% of couples with recurrent miscarriages, one of the parents is either a balanced reciprocal translocation or a robertsonian translocation carrier. Therefore, cytogenetic analysis should be recommended to couples with recurrent miscarriages. Keywords: Recurrent Abortions, Fetal Wastage, Reciprocal Translocation

scholarly journals The contribution of chromosomal abnormalities in the formation of sporadic and recurrent early reproductive losses

1970 ◽  
Vol 21 ◽  
pp. 340-344 ◽  
Author(s):  
I. R. Tkach ◽  
N. L. Huleiuk ◽  
D. V. Zastavna ◽  
G. M. Bezkorovaina ◽  
T. V. Fedyshyn
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Group Iii ◽  
Chromosomal Change ◽  
Group I ◽  
Products Of Conception ◽  
Multicolor Fluorescence ◽  
Chromosomal Aneuploidies

Aim. The aim of the present study was to investigate the contribution of numerical chromosomal imbalances in products of conception from sporadic pregnancy loss (SPL) and recurrent pregnancy loss (RPL). Methods. Banding cytogenetic and interphase mFISH with the probe panel for chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y. Results. Cytogenetic studies of 419 spontaneously aborted fetuses were performed. The results were stratified in 3 groups according to anamnesis: Group I and II – SPL, Group III – RPL. The contribution of chromosomal aberrations was higher in the genesis of SPL (39.9 %) compared to RPL (27.1 %). Among most often diagnosed chromosomal change was triploidy – 27.19 % in SPL vs 27.78 % in RPL, monosomy X – 21.93 % vs 22.22 % and trisomy 16–18.42 % vs 19.44 %. Conclusions.Consequently, detection of chromosomal aneuploidies in samples from products of conception plays a key role to find out about reasons of reproductive failure in humans. Keywords: sporadic pregnancy loss, recurrent pregnancy loss, banding cytogenetic, interphase multicolor fluorescence in situ hybridization (mFISH), chromosome abnormalities.

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