早中孕期胎儿超声软指标与染色体异常的相关性研究

The relationship between abnormal ultrasound soft markers and chromosomal abnormalities in the first and second trimester

目的：分析早中孕期胎儿超声软指标与胎儿染色体异常的相关性，探讨超声检查对胎儿染色体异常的筛查价值及临床应用策略。方法：收集近10年内早中孕期（11～28周）检查提示胎儿超声软指标阳性并接受胎儿染色体核型检查的病例401例，统计分析异常染色体核型的检出结果及追踪这些胎儿的分娩结局。结果：401例胎儿中染色体异常40例，其中有明确不良结局的染色体核型共20例（包括非整倍体17例，结构异常3例），出现多个软指标时染色体异常的发生率（12／40，30．00％）显著高于仅见单个软指标者（28／361，7．76％），差异有统计学意义（P〈0．01）。结论：出现多个超声软指标的胎儿染色体异常的发生率较高，应建议介入产前诊断；孤立软指标阳性的病例预后不良者少，应结合孕妇年龄、血清学生化筛查或无创产前基因检测技术进行评估，减少不必要的侵入性检查。

Objective： To explore the efficacy of screening for fetal chromosomal abnormalities using ultrasound soft markers in the first and second trimester. Methods： A total of 401 fetuses between 11 weeks and 28 weeks with abnormal ultrasound soft markers underwent an invasive diagnostic procedure for abnormal fetal karyotypes. The outcomes of all the fetuses were evaluated. Results： Of 401 fetuses, 40 cases had abnormal karyotypes including aneuploidy and alterations of structure. The incidence rates of chromosome abnormalities in the cases with multiple soft markers were significantly higher than those with single soft marker （P 〈 0.01 ） . Conclusion： Multiple ultrasound soft markers strongly suggest the possibility of abnormal karyotypes and are independent indications to offer invasive testing. While assessing the risk of aneuploidy, single ultrasound soft marker should combined with maternal age, serum markers and non - invasive prenatal genetic screening.