Combined Application Value of Chromosome Karyotype Analysis and Chromosomal Microarray Analysis (CMA) in Prenatal Diagnosis

Abstract

Objective: Chromosome karyotype analysis is the gold standard for prenatal diagnosis yet carries multiple limitations. Chromosomal microarray analysis (CMA) can overcome these drawbacks to a certain extent. This study aims to evaluate the clinical application value of combined chromosome karyotype analysis and CMA in the diagnosis of fetal chromosomal abnormalities in Yancheng. Methods: Retrospectively analyze amniotic fluid test results collected from January 2020 to December 2023, with combined detection of chromosome karyotype analysis and CMA performed on all specimens. Results: The positive detection rate of combined karyotype and CMA testing reached 21.70%. Cases included 159 aneuploidies, 27 mosaic aneuploidies, 19 balanced chromosomal abnormalities, 46 pathogenic or likely pathogenic copy number variations (CNVs), and 51 variants of uncertain clinical significance (VUS). Conclusion: Combined application of CMA and chromosome karyotype analysis is recommended for prenatal diagnosis to elevate positive detection rates, provide scientific and accurate genetic diagnosis, and improve the quality of prenatal genetic counseling.