scholarly journals Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

2021 ◽  
Author(s):  
Mohamed H. Al-Hamed ◽  
Wesam Kurdi ◽  
Rubina Khan ◽  
Maha Tulbah ◽  
Maha AlNemer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Structural Anomalies

scholarly journals Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

2021 ◽  
Author(s):  
Mohamed Al-Hamed ◽  
Wesam Kurdi ◽  
Rubina Khan ◽  
Maha Tulbah ◽  
Maha AlNemer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Fetal Anomalies ◽  
Fetal Abnormalities ◽  
Pathogenic Variants ◽  
Structural Anomalies

Abstract Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. Methods In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. Results The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic / likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in 4 fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Conclusion Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes.

scholarly journals Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

2021 ◽  
Vol 53 (1) ◽  
pp. 1285-1291
Author(s):  
Xiaomei Shi ◽  
Hui Tang ◽  
Jian Lu ◽  
Xiue Yang ◽  
Hongke Ding ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Prenatal Genetic Diagnosis

scholarly journals OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis

2019 ◽  
Vol 54 (S1) ◽  
pp. 13-14
Author(s):  
A. Borrell ◽  
M. Pauta ◽  
A. Nadal ◽  
G. Arca ◽  
F. Paz ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Single Gene ◽  
Gene Panel ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Aparna Prasad ◽  
Matthew A. Sdano ◽  
Rena J. Vanzo ◽  
Patricia A. Mowery-Rushton ◽  
Moises A. Serrano ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Clinical Utility ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

2021 ◽  
Vol 60 (2) ◽  
pp. 299-304
Author(s):  
Xiaomei Luo ◽  
Hong Zhu ◽  
Lili Wang ◽  
Bing Xiao ◽  
Yanjie Fan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
High Risk ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

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
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