收稿日期: 2024-06-14
网络出版日期: 2024-10-22
基金资助
广东省基础与应用基础研究基金企业联合基金项目(2021A1515220106);梅州市医药卫生科研项目(2024-B-74)
Application of ultrasound evaluation of NT thickening and nasal bone dyscalcification combined with CMA in prenatal diagnosis of fetuses
Received date: 2024-06-14
Online published: 2024-10-22
目的 探讨染色体微阵列分析（chromosomal microarray analysis， CMA）在颈项透明层厚度（Nuchal translucency， NT）增厚和鼻骨钙化不良胎儿产前诊断中的应用价值。 方法 选择2022年9月至2024年4月期间在本院产前诊断中心诊断为NT增厚和/或鼻骨钙化不良并接受了CMA、染色体核型分析的75例胎儿进行研究，分析NT增厚和鼻骨钙化不良与染色体异常的关系、CMA对NT增厚和鼻骨钙化不良胎儿的染色体异常检出情况，以及超声联合CMA在产前诊断中的价值。 结果 75例NT增厚和/或鼻骨钙化不良的胎儿中，核型分析检出染色体非整倍体11例，CMA额外检出致病性拷贝数目变异（Copy number variations，CNV）5例，额外检出率为6.7%。单纯NT增厚、鼻骨钙化不良胎儿的CMA额外诊断率分别为6.0%、5.0%。 结论 CMA技术在NT增厚和鼻骨钙化不良胎儿的产前诊断中的价值较高，能够提高胎儿染色体异常的检出率，多种技术的联合应用可为胎儿提供更全面的评估。
刘利娜 , 吴和明 , 郑志远 , 黄淑娴 , 佘玲娜 . 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[J]. 实用医学杂志, 2024 , 40(19) : 2755 -2759 . DOI: 10.3969/j.issn.1006-5725.2024.19.015
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.
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