scholarly journals Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

2018 ◽  
Vol 38 (11) ◽  
pp. 858-865 ◽  
Author(s):  
Shen Gu ◽  
Madison Jernegan ◽  
Ignatia B. Van den Veyver ◽  
Sandra Peacock ◽  
Janice Smith ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Placental Mosaicism

scholarly journals Recent advances in prenatal genetic screening and testing

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2591 ◽  
Author(s):  
Ignatia B. Van den Veyver
Keyword(s):  
New Technologies ◽  
Single Gene ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Whole Exome ◽  
Cell Free Fetal Dna

The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

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

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 Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients

2018 ◽  
Vol 7 (2) ◽  
pp. e00517 ◽  
Author(s):  
Yu Xia ◽  
Shufang Huang ◽  
Yueheng Wu ◽  
Yongchao Yang ◽  
Shaoxian Chen ◽  
...  
Keyword(s):  
Clinical Application ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chinese Han
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