Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.

ABSTRACT:

Background

We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.

Methods

CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV).

Results

Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balance

SUBMITTER: Zhang J 

PROVIDER: S-EPMC8265053 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature