Value of Chromosomal Microarray Analysis Combined with Karyotyping for Prenatal Emergency Diagnosis of Down Syndrome
CHEN Xiuhui
Abstract：Objective To explore the clinical value of combining Chromosomal Microarray Analysis(CMA)with Chromosome Karyotype Analysis in the prenatal emergency diagnosis of Down syndrome.Methods A total of 87 high-risk pregnant women who underwent amniocentesis at Linyi Maternal and Child Health Hospital from January 2021 to January 2024 were selected as study subjects.Fetal free DNA testing results were used as the gold standard for diagnosis.The study aimed to evaluate the concordance between CMA(Chromosomal Microarray Analysis),chromosomal karyotype analysis,and the combination of CMA and chromosomal karyotype analysis in prenatal diagnosis of Down syndrome compared to fetal free DNA testing.The sensitivity,specificity,accuracy,and area under the curve(AUC)for prenatal diagnosis of Down syndrome were compared using receiver operating characteristic(ROC)curves.Additionally,the detection of Down syndrome in different prenatal diagnostic indica-tions was analyzed.Results Among the 87 pregnant women,fetal free DNA testing diagnosed 10 cases of Down syndrome,with a detection rate of 11.49％.The sensitivity,specificity,accuracy,and AUC(area under the curve)of CMA(Chromosomal Microarray Analysis)were 70.00％,97.40％,91.95％,and 0.845,respectively.The sensitivi-ty,specificity,accuracy,and AUC of chromosomal karyotype analysis were 60.00％,96.10％,91.95％,and 0.807,respectively.When combining CMA and chromosomal karyotype analysis,the sensitivity,specificity,accuracy,and AUC were 90.00％,100.00％,98.85％,and 0.966,respectively.In terms of detecting Down syndrome across different prenatal diagnostic indications,CMA detected 1 case in patients with increased nuchal translucency(NT),while other methods detected 2 cases each.In advanced maternal age patients,each method detected 1 case.In patients with high-risk Down syndrome screen-ing,each method detected 2 cases,and in patients with non-invasive genetic abnormalities,each method detected 5 cases.Conclusion The combination of CMA and chromosome karyotype analysis demonstrates high diagnostic efficiency for prenatal emergency diagnosis of Down syndrome and is worthy of clinical promotion.
Keywords：chromosomal microarray analysischromosome karyotype analysisfetal cell-free dna testing
Publication Date：2024-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1456-1459 )