Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions
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منابع مشابه
Comment on 'confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization'.
NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK TDL Genetics, The Doctors Laboratory, London, UK UCL Institute of Child Health, London, UK University College Hospital NHS Foundation Trust, London, UK Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK *Correspondence to: Lyn S. Chitty. E-mail: [email protected]...
متن کاملConfined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization
NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK TDL Genetics, The Doctors Laboratory, London, UK UCL Institute of Child Health, London, UK University College Hospital NHS Foundation Trust, London, UK Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK *Correspondence to: Lyn S. Chitty. E-mail: [email protected]...
متن کاملAneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain
BACKGROUND Understanding the mechanisms underlying generation of neuronal variability and complexity remains the central challenge for neuroscience. Structural variation in the neuronal genome is likely to be one important mechanism for neuronal diversity and brain diseases. Large-scale genomic variations due to loss or gain of whole chromosomes (aneuploidy) have been described in cells of the ...
متن کاملChorionic villus sampling
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct...
متن کاملChorionic Villus Sampling
Chorionic villus sampling (CVS) is a test used for prenatal diagnosis [5]. Safe to perform at an earlier stage in pregnancy [6] than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman?s last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soo...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2018
ISSN: 0197-3851
DOI: 10.1002/pd.5342