In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]
Frontiers in MedicinePurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang +13 more
doaj +2 more sources
ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? [PDF]
Prenatal Diagnosis, 2018 The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal‐Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities.
Sara Hay +6 more
openalex +2 more sources
G3: Genes, Genomes, Genetics, 2016 Fluorescence in situ hybridization (FISH)-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution.
Aiko Iwata-Otsubo +5 more
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Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities [PDF]
Frontiers in GeneticsObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Yun Guo +3 more
doaj +2 more sources
Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis [PDF]
BMC Pregnancy and ChildbirthBackground Although extensively investigated, the genetic etiology of fetal growth restriction (FGR) has not been fully understood. Previous studies have shown the potential of karyotyping, chromosomal microarray analysis (CMA) and trio-based WES (trio ...
Yangping Chen +8 more
doaj +2 more sources
A Novel Automated Chromosome Analyzer Software Bundle for Karyotyping and Birth Defect Analysis
IEEE Access, 2023 Karyotyping is a procedure to diagnose birth defects using chromosome pair. During the Karyotyping chromosomes arranged based on the length and each chromosome will be paired based on various parameters such as, chromosome length, banding pattern and ...
Devaraj Somasundaram +3 more
doaj +1 more source
BMC Medical Genomics, 2021 Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism.
Na Ma +11 more
semanticscholar +1 more source
Annals medicus, 2021 Objectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Methods In this retrospective study, 81 cases of omphalocele were
Xiaomei Shi +5 more
semanticscholar +1 more source
Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype [PDF]
Vojnosanitetski Pregled, 2023 Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon.
Denčić-Fekete Marija +7 more
doaj +1 more source
BMC Pregnancy and Childbirth, 2021 Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang +6 more
semanticscholar +1 more source