Application of ultrasound evaluation of NT thickening and nasal bone dyscalcification combined with CMA in prenatal diagnosis of fetuses.

Objective The purpose of this study was to investigate the application value of Chromosomal microarray analysis (CMA) in prenatal diagnosis of nuchal translucency (NT) thickening and nasal bone dyscalcification. Methods The fetuses diagnosed with NT thickening and nasal bone dyscalcification at the Prenatal Diagnosis Center of Meizhou People's Hospital from September 2022 to April 2024, who underwent CMA and karyotype analysis were collected to analyze the relationship between NT thickening and nasal bone dyscalcification and chromosome abnormalities. The detection of chromosomal abnormalities in fetuses with NT thickening, nasal bone dyscalcification and the value of ultrasound combined with CMA in prenatal diagnosis were analyzed. Results In 75 fetuses with NT thickening and/or nasal bone dyscalcification, 11 cases of chromosome aneuploidy were detected by karyotype analysis, and 5 cases of pathogenic copy number variations (CNV) were detected by CMA, with an additional detection rate of 6.7%. The additional diagnosis rates of CMA were 6.0% and 5.0% in fetuses with simple NT thickening and nasal bone dyscalcification, respectively. Conclusion CMA technique is of high value in prenatal diagnosis of fetuses with NT thickening and nasal bone dyscalcification, it can improve the detection rate of fetal chromosomal abnormalities, and the combined application of multiple techniques can provide a more comprehensive evaluation of the fetuses. [ABSTRACT FROM AUTHOR]