目的 分析孕中期胎儿鼻骨发育异常与其染色体及全基因组拷贝数变异(copy number variations,CNVs)的相关性,探讨是否可以将鼻骨发育异常作为与胎儿染色体CNVs有关的面部畸形指标.方法 选取2016年1月至2023年6月以胎儿鼻骨异常为产前诊断指征于新疆医科大学第一附属医院产前诊断中心做羊水穿刺的16～27周孕中期孕妇46例,以是否合并其他指标异常,分为孤立性鼻骨发育异常组和非孤立性鼻骨发育异常组,将各组的产前诊断结果进行回顾性分析.结果 (1)检出染色体核型异常共9例,异常率19.56％,检出CNVs异常共15例,其中致病性的异常有10例,致病性CNVs异常率21.73％;(2)孤立性鼻骨发育异常组33例中4例染色体核型异常,异常率12.12％,致病性CNVs 2例,合计异常率18.18％;非孤立性鼻骨发育异常组的13例中,有5例染色体核型异常,异常率38.46％.结论 鼻骨发育异常合并其它指标异常,尤其是合并高龄、NT异常时应考虑胎儿非整倍体染色体病.孤立性鼻骨发育异常虽不与非整倍体染色体病有直接相关性,但仍需考虑与染色体拷贝数异常相关,建议行产前诊断明确.
Correlation between abnormal nasal bone development and chromosomal and genome-wide copy number variations in 46 mid-pregnancy fetuses
Objective To analyze the correlation between abnormal fetal nasal bone development in mid-pregnancy and its chromosome and genome-wide copy number variations,and to explore whether abnormal nasal bone development can be used as an indicator of facial malformations associated with fetal chromosome copy number variations.Methods Forty-six pregnant women aged 16 to 27 weeks in mid-pregnancy who underwent amniocentesis at the Prenatal Diagnostic Center of the First Affiliated Hospital of Xinjiang Medical University with fetal nasal bone abnormalities as an indication for prenatal diagnosis were selected from January 2016 to June 2023,and were classified into isolated nasal bone development abnormality group and non-isolated nasal bone development abnormality group according to whether they were combined with other indicators of abnormalities or not,and the prenatal diagnostic results of each group were retrospectively analyzed.Results(1)A total of 9 cases of chromosomal karyotype abnormalities were detected,with an abnormality rate of 19.56％,and a total of 15 cases of CNVs abnormalities were detected,of which 10 were pathogenic abnormalities,with a pathogenic CNVs abnormality rate of 21.73％;(2)Of the 33 cases in the group of isolated rhinoskeletal dysplasia,4 cases of chromosomal abnormalities were detected,with an abnormality rate of 12.12％,and 2 cases of pathogenic CNVs were detected,with a combined abnormality rate of 18.18％.Among the 13 cases in the non-isolated nasal bone dysplasia group,there were 5 cases with chromosomal karyotype abnormality,with an abnormality rate of 38.46％.Conclusion Fetal aneuploidy chromosome disorder should be considered when abnormal nasal bone development is combined with other index abnormalities,especially when combined with advanced age and NT abnormalities.Although there is not a direct correlation between isolated nasal bone development abnormality and aneuploidy chromosome disease,it should be considered to be associated with chromosome copy number abnormality,and it is recommended to carry out prenatal diagnosis to clarify the abnormality.
fetal nasal boneultrasoundchromosomescopy number variationprenatal diagnosis
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