早中孕期孤立性鼻骨发育异常与胎儿染色体异常的关系

目的 探讨早中孕期孤立性鼻骨发育异常与胎儿染色体异常的关系。方法 选取2018 年6 月～2020 年3 月在我院常规产前检查,行早中孕期超声检查发现胎儿孤立性鼻骨发育异常的孕妇,以及外院检查发现上述异常来我院会诊的孕妇,共69 例,对存在鼻骨发育异常胎儿进行染色体核型分析,以明确二者的关系。结果 69例孕妇中,共有13 例存在胎儿鼻骨发育异常,染色体核型分析显示9 例胎儿存在染色体异常,且均为21-三体。对于胎儿孤立鼻骨发育异常,如唐氏筛查显示低风险,则发生染色体异常的可能性相对较低。结论 早中孕期孤立性鼻骨发育异常与胎儿染色体异常密切相关,根据超声检测结果中的鼻骨测量是否有鼻骨缺失或短小等异常情况进一步检测胎儿是否合并染色体异常,从而能够获得准确的诊断结果。

Relationship between solitary nasal bone abnormalities in early and middle pregnancy and fetal chromosomal abnormalities

Objective To explore the relationship between solitary nasal bone abnormalities in early and middle pregnancy and fetal chromosomal abnormalities.Methods A total of sixty-nine pregnant women who found solitary nasal bone abnormalities during early and mid-pregnancy under ultrasound examination during routine prenatal examination in our hospital or who were transferred to our hospital for consultation after the abnormal findings under examinations in other hospitals from June 2018 to March 2020 were selected.Chromosome karyotype analysis was performed in children with nasal bone.The relationship between the two was clarified.Results Of the 69 pregnant women,a total of 13 had fetal nasal bone development abnormalities,9 fetuses had chromosomal abnormalities by karyotype analysis,all of whom were 21-trisomy.Solitary nasal bone abnormalities with a low risk in Down syndrome screening have relatively low possibility of abnormal chromosome.Conclusion Solitary nasal bone abnormalities in early and middle pregnancy are closely related to fetal chromosomal abnormalities.The use of ultrasound detection can further evaluate chromosomal abnormalities based on abnormalities such as nasal bone loss or shortness after nasal bone measurement,to obtain accurate diagnostic results.