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Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-928420
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations.@*METHODS@#Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs).@*RESULTS@#The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis.@*CONCLUSION@#For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Prenatal Diagnosis / Translocation, Genetic / Chromosome Aberrations / Chromosome Disorders / DNA Copy Number Variations / Karyotyping Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article
Full text: 1 Index: WPRIM Main subject: Prenatal Diagnosis / Translocation, Genetic / Chromosome Aberrations / Chromosome Disorders / DNA Copy Number Variations / Karyotyping Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article