摘要
目的探讨鼻骨发育异常胎儿的产前诊断意义。方法对2015年1月至2021年11月于空军军医大学第一附属医院因孕中晚期超声筛查发现胎儿鼻骨发育异常进行遗传咨询,并经羊膜腔穿刺技术进行介入性产前诊断的261例病例染色体微阵列及核型分析结果进行回顾性分析。结果介入性产前诊断检测出致病性染色体异常者31例(11.9%),其中21-三体22例,XYY 1例,染色体微缺失5例,微重复3例。261例鼻骨发育异常胎儿中151例(57.9%)鼻骨缺如,110例(42.1%)鼻骨发育不良。单纯鼻骨缺如80例,检出21-三体1例(1.2%),染色体微重复2例(2.5%),XYY 1例(1.2%);鼻骨缺如合并其他超声异常71例,检出21-三体16例(22.5%),微缺失1例(1.4%);单纯鼻骨发育不良58例,检出21-三体1例(1.7%),微缺失1例(1.7%),微重复1例(1.7%);鼻骨发育不良合并其他超声异常52例,检出致病性染色体异常7例(13.5%),包括21-三体4例,染色体微缺失3例。结论鼻骨发育异常尤其是合并其他超声异常时建议进行介入性产前诊断,常规G显带染色体核型分析和染色体微阵列技术的联合使用可以显著提高致病性染色体异常的检出率。
Objective To explore the sigrificance of prenatal diagnosis for fetuses with abnormal nasal bone development.Methods A total of 261 patients accepted interventional prenatal diagnosis by amniocentesis after genetic counseling due to abnormal nasal bone development detected by second and third trimester ultrasound screening in the First Affiliated Hospital of Air Force Military Medical University from January 2015 to November 2021,and the results of chromosomal microarray analysis(CMA)detection and G-band karyotype were retrospectively reviewed.Results Among the 261 fetuses,there were 31 cases of pathogenic chromosome abnormalities(11.9%),including 22 cases of trisomy 21,1 case of XYY,5 cases of microdeletion and 3 cases of microduplication.Of 261 fetuses,there were 151 cases(57.9%)of nasal bone absence and 110 cases(42.1%)of nasal bone hypoplasia.Of 80 cases of single nasal bone absence,1 case(1.2%)of trisomoy 21 and 2 cases(2.5%)of microduplication were found.Of 71 cases of nasal bone absence and other abnormal ultrasonic results,16 cases(22.5%)of trisomy 21 and 1 case(1.4%)of microdeletion were found.Of 58 cases of single nasal bone hypoplasia,1 case(1.7%)of trisomoy 21,1 case(1.7%)of microdeletion and 1 case(1.7%)of microduplication were found.Of 52 cases of nasal bone hypoplasia along with other abnormal ultrasonic results,7 cases(13.5%)of pathogenic chromosome abnormalities were detected,including 4 cases of trisomy 21 and 3 cases of microdeletion.Conclusion Interventional prenatal diagnosis is recommended for fetuses abnormal nasal bone development especially when combined with other sonographic abnormalities.The combination of G-band karyotyping and CMA can effectively improve the detection rate of pathogenic chromosomal abnormalities.
作者
黎昱
宋婷婷
郑娇
徐盈
李佳
杨红
LI Yu;SONG Tingting;ZHENG Jiao;XU Ying;LI Jia;YANG Hong(Department of Obstetrics and Gynecology,First Affiliated Hospital of Air Force Medical University,Xi’an 710032,China)
出处
《山西医科大学学报》
CAS
2022年第10期1338-1342,共5页
Journal of Shanxi Medical University
基金
西京医院学科助推科技成果孵育后补助资助项目(XJZT19H03)。
关键词
鼻骨发育异常
染色体微阵列分析
染色体核型
产前诊断
abnormal nasal bone development
chromosomal microarray analysis
chromosome karyotype
prenatal diagnosis
