scholarly journals Chromosomal microarray analysis of ovum material in tubal pregnancy

2020 ◽  
Vol 37 (3) ◽  
pp. 26-32
Author(s):  
A. A. Olina ◽  
G. K. Sadykova
Keyword(s):  
Ectopic Pregnancy ◽  
Microarray Analysis ◽  
Histological Study ◽  
Tubal Pregnancy ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Childbearing Age ◽  
Chromosome Microarray Analysis ◽  
Potential Risk Factors ◽  
Chromosome Microarray

Objective. To determine the significance of chromosomal aberrations in ectopic pregnancy. An ectopic pregnancy is a complication that occurs in approximately 12 % of all pregnancies and can cause morbidity and mortality in women of childbearing age. Identification of potential risk factors for the diagnosis of ectopic pregnancy remains an urgent, incompletely studied question. Materials and methods. A descriptive exploratory study was conducted on the basis of the City Clinical Hospital named after M.A. Tverie, Perm. The objects of the study were 20 women with tubal pregnancy. All patients were admitted to the gynecological unit of the clinic with a diagnosis of progressing tubal pregnancy, for which tubotomy with laparoscopic access was performed that allowed to preserve the integrity of the material. Besides traditional histological study, in all cases a chromosome microarray analysis of the fetal egg was performed. Results. In addition to routine histological study, in all cases of the analyzed group, a chromosome microarray analysis of the ovum material was carried out. It turned out that in one case, in a 28-year-old patient with a five-week tubal frozen pregnancy a complex chromosome imbalance was found: three copies of 16, 822 and X chromosomes and four copies of chromosome 7, molecular karyotype (according to ISCN 2016): arr (16. 822, X) x3, (7) x4. Conclusions. Despite the fact that genetic breakdowns are uncontrollable factors and it is not possible to directly influence them, the search for possible mechanisms leading to them is promising.

scholarly journals The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

2020 ◽  
Vol 14 (4) ◽  
pp. 449-456
Author(s):  
J. K. Kievskaya ◽  
I. V. Kanivets ◽  
E. V. Kudryavtseva ◽  
D. V. Pyankov ◽  
S. A. Korostelev
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Microarray Analysis ◽  
Congenital Malformations ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome Microarray Analysis ◽  
Pathogenic Cnvs ◽  
Chromosome Microarray

Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25–26 %.Aim: to estimate frequency of pathogenic copy number variations (CNVs) in fetuses with congenital malformations of CNS and normal karyotyping cytogenetic analysis.Materials and Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics in 2013–2019 due to ultrasound detection of congenital CNS defect in fetus. Fetal samples were studied by using chromosome microarray analysis (CMA).Results. Various pathogenic CNVs were detected in 7 (16.6 %) fetuses with prenatally diagnosed congenital CNS malformations. Non-syndrome pathogenic CNVs were detected in 85.7 %.Conclusion. Thus, performing chromosome microarray analysis as the first-line assay allows to diagnose not only aneuploidy, but also microdeletion/microduplication, the size of which below resolution threshold for standard cytogenetic karyotyping

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

Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter

2016 ◽  
Vol 148 (2-3) ◽  
pp. 174-178
Author(s):  
Rosana S. Faria ◽  
Claudiner P. de Oliveira ◽  
Marcella M. da Costa ◽  
Maria T.A. da S. Rosa ◽  
Mara S. Córdoba ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Microarray Analysis ◽  
Array Cgh ◽  
Distal Segment ◽  
Chromosome 12 ◽  
Chromosome Microarray Analysis ◽  
Complex Rearrangement ◽  
Snp Data ◽  
Break Induced Replication ◽  
Chromosome Microarray

Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray analysis with loss of heterozygosity (LOH) of the deleted segment in addition to the adjacent distal segment. LOH is indicative of a complex rearrangement, suggestive of mitotic microhomology-mediated break-induced replication.

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

scholarly journals 15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Hui-Fang Zhou ◽  
Christopher J. O’Conor ◽  
Chiraag Gangahar ◽  
Louis P. Dehner
Keyword(s):  
High Resolution ◽  
Abdominal Wall ◽  
Microarray Analysis ◽  
Abdominal Wall Defect ◽  
Conventional Technique ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Abnormality ◽  
Initial Report ◽  
Giant Omphalocele

Background. Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele. Case Presentation. The current study is the initial report of a newborn male with a 15q23 gain and a giant omphalocele. High-resolution chromosomal microarray analysis identified this gain of copy number spanned 676 kb, involving almost the entire NOX5 gene (except for exon 1 of the longer transcript), the entirety of the EWSAT1, GLCE, PAQR5, KIF23, RPLP1, and DRAIC genes and exons 1–3 of the PCAT29 gene. Conclusion. To date, this is the first report of an associated 15q23 gain in a case with omphalocele. Interestingly, Giancarlo Ghiselli and Steven A Farber have reported that GLCE knockdown impairs abdominal wall closure in zebrafish. We also identified GLCE gene alteration in our case. This highlights the importance of GLCE in abdominal wall development. Further study of the function of GLCE and other genes might lead to a better understanding of the molecular mechanism of omphalocele.

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