The value of ultrasound assessment of fetal nasal bone dysplasia in the diagnosis of fetal chromosomal abnormalities during the second and the third trimesters of pregnancy
Qian Xiaoting1, Bao Lingyun1, Huang Anqian1, Xu Yanjun2, Shi Junhua1, Huang Yayuan1, Kan Guangjuan1, Wang Hongyang1
1.Department of Ultrasound in Medicine, the First People’s Hospital of Hangzhou, Hangzhou 310006, China; 2.Department of Ultrasound in Medicine, the Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, China
Qian Xiaoting,Bao Lingyun,Huang Anqian, et al. The value of ultrasound assessment of fetal nasal bone dysplasia in the diagnosis of fetal chromosomal abnormalities during the second and the third trimesters of pregnancy[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2019, 49(7): 507-511.
摘要目的：探讨孕中晚期胎儿鼻骨发育的超声评估在染色体异常诊断中的价值。方法：回顾性分析2013年1月至2018年3月杭州市第一人民医院中晚期产前超声发现的鼻骨发育异常的病例63例，根据是否合并其他超声软指标或结构异常，分为单纯性鼻骨发育异常组及合并其他结构异常组，分别为16例和47例。与染色体分析结果和（或）单核苷酸多态性微阵列分析结果相对照，并随访至胎儿引产或出生后3个月。结果：63例胎儿中44例进行染色体分析，共检出20例染色体异常，其中21-三体综合征14例（占70%），18-三体综合征1例（占5%），13-三体综合征2例（占10%），其他异常3例（占15%）。鼻骨发育异常合并其他结构异常组的染色体异常发生率比单纯性鼻骨发育异常组高（62.1% vs. 13.3%），差异有统计学意义（χ2=9.47，P＜0.05）。结论：孕中晚期胎儿鼻骨发育异常与染色体异常密切相关，尤其是合并其他超声软指标或结构异常的胎儿，需要进一步确定染色体核型和（或）单核苷酸多态性微阵列分析。
Abstract：Objective: To investigate the value of ultrasound assessment of nasal bone development abnormalities in the diagnosis of chromosomal abnormalities during the second and the third trimester. Methods: A retrospective analysis was made of 63 cases of nasal dysplasia during the second and the third trimester of ultrasound from January 2013 to March 2018 in the First People’s Hospital of Hangzhou. The cases were divided as simple nasal dysplasia group (16 cases) and nasal dysplasia with other structural abnormalities (47 cases), depending on whether they were combined with other ultrasonic soft indexes or structural abnormalities. Ultrasound results were compared with chromosomal analysis results and (or) single nucleotide polymorphism microarray analysis results. All these cases were followed up to fetal induction or 3 months after birth. Results: Chromosomal analysis was performed in 44 out of 63 cases. A total of 20 chromosomal abnormalities were detected, including 14 cases (70%) of 21-trisomy, 1 case (5%) of 18-trisomy in, 2 cases (10%) of 13-trisomy, and 3 cases (15%) of other abnormalities. The incidence of chromosomal abnormalities in the group of nasal dysplasia with other soft ultrasound or structural abnormalities was found to be higher than that of simple nasal dysplasia group (62.1% vs. 13.3%) (χ2=9.47, P<0.05). Conclusion: The development of fetal nasal dysplasia during the second and the third trimester is closely related to chromosomal abnormalities. In particular, fetuses with other ultrasonic soft indexes or structural abnormalities need to further determine the karyotype and/or single nucleotide polymorphism microarray analysis. Ultrasound assessment of nasal development should serve as an important indicator.
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