产前超声异常孕妇667例染色体微阵列检测及随访结果分析

Analysis of CMA and follow-up results of 667 pregnant women with abnormal prenatal ultrasound

目的探讨染色体微阵列技术(chromosomal microarray analysis, CMA)在产前诊断中的应用价值。方法以2018年1月至2019年9月间由于产前超声异常就诊于郑州大学第三附属医院的667例孕妇为研究对象,利用Affymatrix Cytoscan 750K芯片进行羊水CMA检测,并对致病性病例进行电话随访。结果羊水CMA检出染色体异常共122例,其中明确致病性病例68例,包括染色体致病性微缺失微重复35例和染色体非整倍体33例;可能致病性6例;意义不明确41例;可能良性7例。超声结果单种异常病例为369例,其中CMA结果明确致病性27例,占7.3%(27/369);超声结果多种异常病例为298例,其中明确致病性41例,占13.4%(41/298)。667例产前超声异常的孕妇中,超声软指标异常219例,其中致病性染色体异常13例,占5.93%(13/219);超声结果结构异常448例,其中致病性染色体异常55例,占12.28%(55/448)。在68例明确致病性的随访中,共收到57例随访结果,其中53例因为染色体异常和(或)超声异常进行了引产,1例自然流产,另有3例出生,出生者中目前尚未发现异常。结论 ①产前超声异常胎儿的进一步行CMA检查可以有效降低出生缺陷的发生率;②产前超声多种异常相对于单种异常病例明致病性结果检出率高;③超声结构异常相对于超声软指标异常病例致病性染色体异常检出率高。

Objective To discuss the role of chromosomal microarray analysis in prenatal diagnosis.Methods The objects of the study are 667 pregnant women who had been tested by CMA with amniotic fluid for prenatal abnormal ultrasound results in the third affiliated hospital of Zhengzhou University between January of 2018 and September of 2019. All the amniotic fluid was tested by Affymatrix Cytoscan 750 K array. Follow-up studies were conducted on the pathogenic cases by telephone.Results Chromosomal abnormalities were detected in 122 cases by CMA in amniotic fluid, including 68 pathogenic results, of which 35 cases were microdeletions or microduplications, and 33 cases were aneuploids. CMA also found 6 likely pathogenic cases, 41 cases of uncertain significance, 7 likely benign cases, and 545 benign cases. Prenatal ultrasound found 369 cases with single anomalies, of which 27 cases with pathogenic CMA results, taking the percent of 7.3%(27/369);prenatal ultrasound found 298 cases with multiple anomalies, of which 41 cases with pathogenic CMA results, taking the percent of 13.4%(41/298). Prenatal ultrasound found 219 cases with soft maker anomalies, of which 13 cases with pathogenic CMA results, taking the percent of 5.93%(13/219);Prenatal ultrasound found 448 cases with structural anomalies, of which 55 cases with pathogenic CMA results, taking the percent of 12.28%(55/448). In the follow-up study of the 68 pathogenic cases, we got 57 follow-up study results, among which 53 cases induced labour, 1 case suffered spontaneous abortion, and the other 3 cases have been born, no problems have been observed of the three born babies.Conclusion①Further CMA examination of fetus with abnormal prenatal ultrasound can effectively reduce the incidence of birth defects.②The detection rate of multiple abnormal cases in prenatal ultrasound was higher than that of single abnormal cases.③The detection rate of pathogenicity chromosome abnormality in patients with abnormal ultrasonic structure was higher than that in patients with abnormal ultrasonic soft index.