早孕期超声软指标在产前诊断中的应用价值

Application value of ultrasound soft index in the first trimester in prenatal diagnosis

目的探讨早孕期超声软指标异常与染色体核型异常的关系。方法对我院2013年1月-2018年10月136例早孕期胎儿超声筛查软指标异常的病例,行超声介导下绒毛活检术及G显带染色体核型分析,统计各软指标的染色体异常率。结果136例绒毛标本经G显带染色体核型分析,共检出异常核型38例,染色体异常率为27.9%(38/136)。多发软指标异常胎儿染色体异常率(62.1%,18/29)较孤立性软指标异常胎儿(18.7%,20/107)显著增高,两者的差异具有统计学意义(P<0.05)。其中,胎儿颈项透明层(nuchal translucency,NT)增厚合并其他软指标异常胎儿异常率为56.5%(13/23),孤立性NT增厚胎儿染色体异常率为25.8%(17/66),两者的差异具有统计学意义(P<0.05)。鼻骨缺如合并其他软指标异常和孤立性鼻骨缺如的胎儿染色体异常率分别为60.0%(15/25)和3.9%(1/26),两者具有显著差异(P<0.05)。结论多发软指标异常及孤立性NT增厚对染色体异常有较高的检出率,早孕期对该人群行产前诊断可有效防止出生缺陷以及减少对孕妇的伤害。

Objective:To explore the relationship between abnormal ultrasound soft index and karyotype abnormality in the first trimester.Methods:Ultrasound-mediated villus biopsy and G-band karyotype analysis were performed on 136 cases of fetal ultrasound screening for soft ultrasound the first trimester from January 2013 to October 2018.The incidence rate of each abnormal ultrasound soft index were analyzed.Results:A total of 136 cases of villus were analyzed by G-banding karyotype.38 cases of abnormal karyotype were detected,and the incidence rate of chromosome abnormalities was 27.9%(38/136).The incidence rate of chromosome abnormalities of the multiple soft index(62.1%,18/29)was significantly higher than that of the single ultrasound soft index(18.7%,20/107),and the difference was statistically significant(P<0.05).89 cases were classified into two groups:the fetal neck transparent layer(nuchal translucency(NT)thickening combined with other soft indicators group(23 cases)and isolated NT thickening group(66 cases).The incidence rate of chromosome abnormalities of the former was 56.5%(13/23)and the later was 25.8%(17/66).The difference is statistically significant(P<0.05).The incidence rate of chromosome abnormalities of the nasal bone loss with other ultrasound soft index abnormalities and single nasal bone loss were 60.0%(15/25)and 3.9%(1/26),respectively.The difference is statistically significant(P<0.05).Conclusion:Multiple ultrasound soft index abnormalities and single NT thickening in the first trimester by chorionic villi karyotype analysis are of high predictive value for fetal chromosome abnormalities.Prenatal diagnosis of this population in the first trimester can effectively prevent birth defects and reduce the harm to pregnant women.