孕中晚期胎儿鼻骨的超声评估在染色体异常诊断中的价值

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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.

Key words： nasal bone dysplasia ultrasonography, prenatal chromosome aberrations

Received: 15 September 2018

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	Qian Xiaoting
	Bao Lingyun
	Huang Anqian
	Xu Yanjun
	Shi Junhua
	Huang Yayuan
	Kan Guangjuan
	Wang Hongyang

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https://xb.wmu.edu.cn/EN/ OR https://xb.wmu.edu.cn/EN/Y2019/V49/I7/507

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