92例胎儿鼻骨发育异常的产前诊断临床分析  

Clinical analysis of prenatal diagnosis of 92 cases of fetal nasal bone dysplasia

作　　者：张艳萍[1] 钟世林[1] 董晶[1] 王贺[1] 邓玉清[1] Zhang Yanping;Zhong Shilin;Dong Jing;Wang He;Deng Yuqing(Department of Obstetrics and Gynecology,Peking University Shenzhen Hospital,Shenzhen Guangdong 518036,P.R.China)

机构地区：[1]北京大学深圳医院妇产科,广东深圳518036

出　　处：《中国计划生育和妇产科》2021年第12期49-52,共4页Chinese Journal of Family Planning & Gynecotokology

摘　　要：目的探讨孕期胎儿鼻骨发育异常与染色体核型和染色体微阵列分析(chromosomal microarray analysis,CMA)的相关性。方法回顾性分析北京大学深圳医院产前诊断中心因孕期超声发现胎儿鼻骨发育异常行介入性产前诊断手术的92例孕妇,研究其年龄、鼻骨发育异常相关指标与染色体核型和CMA的关系。结果92例鼻骨发育异常胎儿共检出染色体核型异常11例,CMA异常23例,其中CMA致病性异常13例。年龄≥35岁合并胎儿鼻骨发育异常者其染色体异常及CMA致病性异常发生率高于年龄<35岁孕妇,差异有统计学意义(χ^(2)=7.78,P=0.005;χ^(2)=5.447,P=0.02)。胎儿鼻骨发育异常合并其他超声指标异常者其染色体异常及CMA致病性异常发生率高于鼻骨缺如或显示不清者,差异有统计学意义(χ^(2)=9.619,P=0.002;χ^(2)=7.054,P=0.029),鼻骨短小胎儿未出现染色体及CMA致病性异常。CMA检测较染色体核型分析对染色体异常有更高的检出率。结论孕期产前超声提示胎儿鼻骨发育异常时,对胎儿其他结构详细筛查,如存在高龄、多个超声指标异常等情况,建议行介入性产前诊断;超声提示鼻骨短小胎儿出现染色体异常的概率较小;CMA检测可检出胎儿微缺失/微重复综合征,建议同时行染色体核型分析及CMA检测。Objective To investigate the relationship between fetal nasal bone dysplasia and chromosome karyotype and chromosomal microarray analysis(CMA)during pregnancy.Methods 92 pregnant women with abnormal nasal bone found by prenatal ultrasound in Peking University Shenzhen Hospital and chose further interventional prenatal diagnosis were retrospectively analyzed.The relationship between age,nasal bone dysplasia-related indicators,karyotype and CMA was studied.Results 11 cases of chromosomal abnormalities and 23 cases of CMA abnormalities(13 cases of pathogenic abnormalities)in 92 fetuses with nasal bone dysplasia were found.The incidence of chromosomal abnormalities and CMA pathogenic abnormalities in patients with age≥35 and fetal nasal bone dysplasia were higher than those in pregnant women with age<35,the differences were statistically significant(χ^(2)=7.78,P=0.005;χ^(2)=5.447,P=0.02).The incidence of chromosomal abnormalities and CMA pathogenic abnormalities in fetal nasal bone dysplasia combined with other ultrasound indexes were higher than those in missing or unclear nasal bone group,the differences were statistically significant(χ^(2)=9.619,P=0.002;χ^(2)=7.054,P=0.029).There were no chromosomal and CMA abnormalities in fetuses with short nasal bone.CMA detection has a higher detection rate of chromosomal abnormalities than karyotype analysis.Conclusion When prenatal ultrasound indicates fetal nasal bone dysplasia,it is necessary to screen other fetal structures in detail,if combined with old age,multiple abnormal ultrasound indicators,etc,interventional prenatal diagnosis should be recommended;the probability of chromosomal abnormalities in fetuses with short nasal bone was low;CMA detection can detect fetal microdeletion/microduplication syndrome.It is suggested that karyotype analysis and CMA detection should be performed at the same time.

关 键 词：胎儿鼻骨 产前诊断 无创DNA 染色体 微阵列 

分 类 号：R714.15[医药卫生—妇产科学]