Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis

Abstract excerpt

Background Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis. Methods We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according...

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• Share to Genetic Syndromes and Imprinting
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics