Yassmine M N Akkari, Michael E Talkowski, Amy M Breman
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引用次数: 0
Abstract
Cytogenetic technologies such as G-banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next-generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with structural anomalies. Emerging studies are now establishing increased diagnostic yields from molecular technologies, but there remains a lack of consensus as to whether ES/GS should replace cytogenetic technologies and targeted genepanel screening as first-line tests for all prenatal diagnoses. This report is a summary of the debate on this topic presented at the 28th International Conference on Prenatal Diagnosis and Fetal Therapy. Both expert debaters discussed the advantages and disadvantages.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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