Results 11 to 20 of about 7,342 (136)
Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples. [PDF]
Prenat DiagnABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Vladoiu MC +7 more
europepmc +2 more sources
Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome [PDF]
Molecular CytogeneticsTrisomy 14 mosaicism is a rare chromosomal disorder caused by the presence of an extra chromosome 14 in a subset of cells. Its true prevalence is unclear due to frequent early pregnancy loss.
Romain Martineau +4 more
doaj +2 more sources
Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling, Where Are We Now? [PDF]
Maternal-Fetal MedicineHuijing Zhang +3 more
doaj +2 more sources
Frontiers in Genetics, 2022 A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases.
Pascale Kleinfinger +8 more
doaj +1 more source
Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran [PDF]
Armaghane Danesh Bimonthly Journal, 2023 Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams +3 more
doaj
Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities
Gynecology Obstetrics & Reproductive Medicine, 2022 Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar +2 more
doaj +1 more source
Confined placental mosaicism of Duchenne muscular dystrophy: a case report
Molecular Cytogenetics, 2020 Background Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance.
Max Winerdal +4 more
doaj +1 more source
Uncommon Presentation of Triploidy: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus
Işil Uzun +4 more
doaj +1 more source
Molecular Cytogenetics, 2021 Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells.
Eini Westenius +2 more
doaj +1 more source
Armaghane Danesh Bimonthly Journal, 2022 Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams +3 more
doaj