Results 1 to 10 of about 10,279 (114)

Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos [PDF]

Scientific Reports
Genome-wide single nucleotide polymorphism (SNP) genotyping using microarrays and karyomapping (parental haplotyping) is a universal linkage-based method for preimplantation genetic testing of monogenic disease (PGT-M) and identification of chromosome ...
Alan H. Handyside, Louise Newnham, Matthew Newnham, Dominika Henning, Jan Velebny, Jan Pozdena, Jindriska Krmelova, Jakub Horak   +7 more
doaj   +2 more sources

Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

Medical Sciences (Basel, Switzerland), 2019
Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements,
Hongyan Chai, Autumn Diadamo, Brittany Grommisch   +2 more
exaly   +3 more sources

Whole exome sequencing: a new era in prenatal diagnostics [PDF]

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +2 more sources

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience [PDF]

Molecular Genetics & Genomic Medicine
Introduction To assess the clinical efficacy of prenatal cfDNA screening for detecting sex chromosome aneuploidies (SCAs). Material and Methods We conducted a retrospective study at a single center including women with singleton pregnancies who underwent
Ying Lin, Qun Lu, Yun Wu, Hang Li, Haoyang Feng, Chunyu Luo, Ping Hu, Dong Liang, Zhengfeng Xu   +8 more
doaj   +2 more sources

Cytogenetic techniques in current biomedical research. PART III: numerical alterations of human karyotype

Фундаментальная и клиническая медицина, 2022
Numerical abnormalities of karyotype are the result of genome mutations. Unlike gene and chromosomal abnormalities, genome mutations do not disrupt the structure of DNA or chromosomes. The cause of numerical changes in the karyotype is a violation of the
A. N. Volkov, O. I. Rytenkova
doaj   +1 more source

Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing

Frontiers in Genetics, 2022
Objective: To evaluate positive rate and accuracy of non-invasive prenatal testing (NIPT) combining Z-score and maternal copy number variation (CNV) analysis.
Liheng Chen, Liheng Chen, Lihong Wang, Zhipeng Hu, Yilun Tao, Wenxia Song, Yu An, Yu An, Xiaoze Li   +8 more
doaj   +1 more source

Chromosomal Aneuploidies and Early Embryonic Developmental Arrest [PDF]

International Journal of Fertility and Sterility, 2015
Background Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF) technology.
Maria Maurer, Thomas Ebner, Manuela Puchner, Richard Bernhard Mayer, Omar Shebl, Peter Oppelt, Hans-Christoph Duba   +6 more
doaj   +1 more source

Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations

Frontiers in Genetics, 2022
Since the introduction of cell-free (cf) DNA analysis, Non-Invasive Prenatal Testing (NIPT) underwent a deep revolution. Pregnancies at high risk for common fetal aneuploidies can now be easily identified through the analysis of chromosome-derived ...
Giulia Bonanni, Valentina Trevisan, Valentina Trevisan, Marcella Zollino, Marcella Zollino, Marco De Santis, Federica Romanzi, Federica Romanzi, Antonio Lanzone, Antonio Lanzone, Elisa Bevilacqua   +10 more
doaj   +1 more source

Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Molecular Genetics & Genomic Medicine, 2021
Background There is little evidence on the performance of non‐invasive prenatal testing (NIPT) for the detection of fetal sex chromosomal imbalances. In this review, we aimed to appraise and synthesize the literature on the performance of NIPT for the ...
Bounhome Soukkhaphone, Carmen Lindsay, Sylvie Langlois, Julian Little, Francois Rousseau, Daniel Reinharz   +5 more
doaj   +1 more source

Frequency of Chromosomal Abnormalities in Products of Conception [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2017
Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the databank of a medical genetics ...
Thaís Mesquita Alves Teles, Carolina Maria Marques de Paula, Mariana Gontijo Ramos, Helena B. B. L. Martins da Costa, Cyntia Roberta Almeida Andrade, Sarah Abreu Coxir, Maria Lectícia Firpe Penna   +6 more
doaj   +1 more source