Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
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DOI: 10.3389/fgene.2020.620162
Abstract: Balanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1 in 500 newborns and are… read more here.
Keywords: diagnosis; clinical utility; bcas; chromosomal abnormalities ... See more keywords
Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis
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DOI: 10.3389/fgene.2021.810900
Abstract: Background: Balanced chromosomal aberrations, especially balanced translocations, can cause infertility, recurrent miscarriage or having chromosomally defective offspring. Preimplantation genetic testing for structural rearrangement (PGT-SR) has been widely implemented to improve the clinical outcomes by selecting… read more here.
Keywords: oxford nanopore; analysis; breakpoints region; balanced chromosomal ... See more keywords
Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing
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DOI: 10.3389/fgene.2022.951829
Abstract: Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a de novo BCA, but a prenatal diagnosis based on BCAs… read more here.
Keywords: chromosomal abnormalities; diagnosis; abnormalities bcas; balanced chromosomal ... See more keywords