【摘要】 目的 分析超声软指标异常胎儿的染色体异常的检出特征,评估单纯超声软指标异常与合并高危因素(如高龄妊娠、血清学筛查高风险或不良孕产史)胎儿群体间的染色体异常发生率差异,验证实施风险分层管理的临床必要性。方法 纳入402名超声软指标异常孕妇行介入性产前诊断,采用染色体核型分析联合染色体微缺失微重复(CNVs)检测,比较单纯超声软指标异常与合并高危因素组的染色体异常风险差异。结果 402例胎儿中,核型分析检出异常30例(7.46%),CNV-seq检出异常35例(8.71%),包括染色体非整倍体19例,致病性CNVs14例及嵌合体2例;联合诊断总异常检出率为11.19%(45/402)。单纯超声软指标异常组阳性检出率为8.92%(28/314),合并其他高危因素组阳性检出率为19.32%(17/88),差异有统计学意义(P<0.05)。结论 超声软指标异常与染色体异常有较高的相关性,CNV-seq联合染色体核型分析可以提高染色体异常检出率,临床工作中应重视对胎儿超声软指标及高危因素的分层次风险评估、产前诊断和充分的遗传咨询,在提高出生缺陷的检出率的同时保存生育力,以保障母婴健康。更多还原

【Abstract】 Objective To analyze the detection characteristics of chromosomal abnormalities in fetuses with abnormal ultrasound soft markers, evaluate the difference in the incidence of chromosomal abnormalities between fetuses with isolated ultrasound soft marker anomalies and those combined with highrisk factors(such as advanced maternal age, high-risk serological screening, or adverse pregnancy history), and validate the clinical necessity of implementing risk-stratified management. Methods A total of 402 pregnant women with abnormal ultrasound soft markers underwent invasive prenatal diagnosis. Chromosomal karyotype analysis combined with chromosomal microdeletion and microduplication(CNVs) testing was performed to compare the risk of chromosomal abnormalities between the isolated ultrasound soft marker group and the combined high-risk factors group. Results Among the 402 fetuses, karyotype analysis detected abnormalities in 30 cases(7.46%), while CNV-seq identified abnormalities in 35 cases(8.71%), including 19 cases of chromosomal aneuploidy, 14 pathogenic CNVs, and 2 mosaicisms. The combined diagnostic total abnormality detection rate was 11.19%(45/402). The positive detection rate in the isolated ultrasound soft marker group was 8.92%(28/314), whereas the combined high-risk factors group had a positive detection rate of 19.32%(17/88), showing a statistically significant difference(P<0.05). Conclusion Abnormal ultrasound soft markers are highly correlated with chromosomal abnormalities. The combination of CNV-seq and chromosomal karyotype analysis can improve the detection rate of chromosomal abnormalities. Clinical practice should emphasize hierarchical risk assessment, prenatal diagnosis, and comprehensive genetic counseling for fetal ultrasound soft markers and highrisk factors, aiming to enhance the detection rate of birth defects while preserving fertility to ensure maternal and infant health.更多还原