Clinical Value of Prenatal Non-invasive DNA Testing Combined with NT Ultrasound in Screening Fetal Chromosomal Diseases
SU Xin
JIN Qi
Abstract：Objective:To analyze the clinical value of prenatal non-invasive DNA testing combined with nuchal translucency(NT)ultrasound screening for fetal chromosomal diseases.Method:A total of 459 pregnant women who underwent prenatal screening in Beijing Jishuitan Hospital Guizhou Hospital from May 2021 to May 2023 were selected as the study objects.All pregnant women underwent non-invasive DNA and NT ultrasound examination.The clinical value of the two examination methods for screening fetal chromosomal diseases were analyzed using chromosome karyotype analysis of amniotic fluid cells as the gold standard.Result:Among the 459 pregnant women,a total of 68 cases of chromosomal abnormalities were detected by gold standard,a total of 67 cases were detected by prenatal non-invasive DNA combined with NT ultrasound,a total of 60 cases were detected by prenatal non-invasive DNA,and a total of 58 cases were detected by NT ultrasound.The sensitivity,accuracy and negative predictive value of prenatal non-invasive DNA combined with NT ultrasound screening for fetal chromosome diseases were higher than those of the two diagnostic methods alone,and the differences were statistically significant(P<0.05).The agreement of prenatal non-invasive DNA combined with NT ultrasound with gold standard was excellent(Kappa=0.974,P<0.001).Conclusion:Prenatal non-invasive DNA combined with NT ultrasound can effectively diagnose fetal chromosomal diseases,and has certain screening value.
Keywords：Chromosomal diseaseNon-invasive DNANuchal translucencyDiagnostic efficacyNegative predictive valueSensitivity
Publication Date：2024-06-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 58-61 )