Application of ultrasound evaluation of NT thickening and nasal bone dyscalcification combined with CMA in prenatal diagnosis of fetuses
10.3969/j.issn.1006-5725.2024.19.015
- VernacularTitle:超声评估颈项透明层厚度增厚和鼻骨钙化不良结合染色体微阵列分析在胎儿产前诊断中的应用
- Author:
Li'na LIU
1
;
Heming WU
;
Zhiyuan ZHENG
;
Shuxian HUANG
;
Lingna SHE
Author Information
1. 梅州市人民医院产前诊断中心(广东梅州 514000)
- Keywords:
ultrasonography;
NT thickening;
nasal bone dyscalcification;
CMA;
chromosomal abnormalities;
prenatal diagnosis
- From:
The Journal of Practical Medicine
2024;40(19):2755-2759
- CountryChina
- Language:Chinese
-
Abstract:
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 dyscalci-fication.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 detec-tion rate of fetal chromosomal abnormalities,and the combined application of multiple techniques can provide a more comprehensive evaluation of the fetuses.
