Chromosomal microarray analysis of miscarriage products in recurrent pregnancy loss

2016 ◽  
Vol 106 (3) ◽  
pp. e374
Author(s):  
D. Bar-Avin Dayan ◽  
S. Rienstein ◽  
H. Yonath ◽  
E. Guetta ◽  
E. Pras ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

131: Chromosomal microarray analysis (CMA) vs karyotype in the evaluation of early pregnancy loss

2014 ◽  
Vol 210 (1) ◽  
pp. S79
Author(s):  
Stephanie Romero ◽  
Katherine Geiersbach ◽  
Christian Paxton ◽  
Enrique Schisterman ◽  
Angela Presson ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Early Pregnancy ◽  
Pregnancy Loss ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Early Pregnancy Loss

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.

scholarly journals Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

scholarly journals When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

2017 ◽  
Vol 20 (1) ◽  
pp. 128-131 ◽  
Author(s):  
Idit Maya ◽  
Reuven Sharony ◽  
Shiri Yacobson ◽  
Sarit Kahana ◽  
Josepha Yeshaya ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Chromosomal Microarray Analysis and Prenatal Diagnosis

2014 ◽  
Vol 69 (10) ◽  
pp. 613-621 ◽  
Author(s):  
Jamie O. Lo ◽  
Brian L. Shaffer ◽  
Cori D. Feist ◽  
Aaron B. Caughey
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis
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