孕早中期超声软指标在产前染色体筛查中的价值

目的 探讨孕早中期超声软指标在产前染色体筛查中的价值.方法 选取2013年1月至2016年6月在广州市花都区妇幼保健院就诊的超声软指标阳性的患者770例,其中仅有单个软指标688例,有2个及以上软指标82例,分析染色体核型检查结果.结果 770例超声软指标阳性胎儿中,96.36%为正常染色体核型,3.64%为异常核型,其中非整倍体6例(21-三体4例,18-三体及13-三体各1例),染色体结构异常22例(染色体易位、缺失或重复7例,遗传多态15例);多个软指标病例中非整倍体和染色体结构异常发生率分别为2.44%和4.88%,多于单个软指标病例,但差异无统计学意义(χ2值分别为1.309、0.658,均P>0.05).结论 超声软指标在染色体筛查中有重要临床意义,可提示染色体异常的风险.

Value of ultrasound soft index in early and middle term of pregnancy in prenatal chromosome screening

Objective To investigate the value of ultrasound soft index in early and middle term of pregnancy in prenatal chromosome screening.Methods Totally 770 cases with positive ultrasound soft index admitted in Maternal and Child Health Care Hospital of Huadu District were selected from January 2013 to June 2016, among whom there were 688 cases with only one soft index and 82 cases with 2 or more soft indexes.Results of chromosome karyotype were analyzed.Results Among fetuses of 770 cases with positive ultrasound soft index, 96.36% had normal karyotypes and 3.64% had abnormal karyotypes, including 6 cases of aneuploid (4 cases of 21 trisomy,1 case of 18 trisomy and 1 case of 13 trisomy) and 22 cases of abnormal chromosome structure (chromosome translocation, deletion or duplication in 7 cases, genetic polymorphism in 15 cases).The incidence rates of aneuploid and abnormal chromosome structure in cases with several soft indexes were 2.44% and 4.88%, respectively, which were more than in cases with single soft index.But the differences were not statistically significant (χ2 value was 1.309 and 0.658, respectively, both P>0.05).Conclusion Ultrasound soft index has important clinical significance in chromosome screening, which can indicate the risk of chromosomal abnormalities.