超声软标记及结构畸形在染色体异常胎儿产前诊断中的临床价值

The clinical value of ultrasound soft markers and structural malformations in prenatal diagnosis of chromosomal abnormalities

目的:探讨超声软标记及结构畸形在染色体异常胎儿产前诊断中的临床价值。方法:回顾性纳入2017年1月~2019年12月在我院检查具有超声软标记或结构畸形的1510例胎儿,对染色体核型分析结果及超声征象特点进行总结分析,比较超声软标记与结构畸形胎儿中的染色体异常情况。结果:1510例胎儿中染色体异常胎儿90例(6.0%),21-三体(65例,72.2%)、18-三体(14例,15.6%)为主要染色体异常类型。90例染色体异常胎儿中单个超声软标记27例(30.0%)、多个超声软标记30例(33.3%)、单发结构畸形20例(22.2%)、多发结构畸形13例(14.4%)。单个超声软标记以鼻骨发育不良多见(10例,37.0%);多个超声软标记中17例(56.7%)伴有鼻骨发育不良,15例(50.7%)伴有NT增厚;单发结构畸形以心血管畸形为主(14例,70.0%);多发结构畸形均伴有心血管畸形。多发结构畸形胎儿中的染色体异常检出率[15.5%(13/84) vs 9.5%(20/210)]明显高于单发结构畸形(P<0.05),结构畸形胎儿中的染色体异常检出率[11.2%(33/294) vs 4.7%(57/1216)]明显高于超声软标记(P<0.05)。结论:超声软标记或结构畸形胎儿中染色体异常的检出率较高。对存在结构畸形特别是多发结构畸形的胎儿,建议行染色体核型分析明确诊断。

Objective:To discuss the clinical value of ultrasound soft markers and structural malformations in prenatal diagnosis of chromosomal abnormalities. Methods: Retrospective study included 1510 fetuses with ultrasonic soft marks or structural abnormalities who were examined in our hospital from January 2017 to December 2019. The results of karyotype analysis and the characteristics of ultrasonic signs were summarized and analyzed. The chromosomal abnormalities were compared in fetuses with ultrasound soft markers and structural abnormalities. Results:There were 90(6.0%) fetuses with chromosomal abnormalities among the 1510 fetuses. The main chromosomal abnormalities were 21-trisomy(65 cases, 72.2%) and 18-trisomy(14 cases, 15.6%). Among the 90 fetuses with chromosomal abnormalities, 27 fetuses(30.0%) with single ultrasound soft markers, 30 fetuses(33.3%) with multiple ultrasound soft markers, 20 fetuses(22.2%) with single structural malformations, and 13 fetuses(14.4%)with multiple structural malformations. Nasal bone dysplasia(10 cases, 37.0%) was more common in single ultrasound soft marker. Among the multiple ultrasound soft markers, 17 cases(56.7%) were accompanied with nasal bone dysplasia and 15 cases(50.7%) accompanied with NT thickening. Cardiovascular malformations was more common in single structural malformations(14 cases, 70.0%). All the multiple structural malformations were accompanied with cardiovascular malformations. The detection rate of chromosomal abnormalities of multiple structural malformations [15.5%(13/84) vs 9.5%(20/210)] was significantly higher than that of single structural malformations(P<0.05). The detection rate of chromosomal abnormalities of structural malformations [11.2%(33/294) vs 4.7%(57/1216) ] was significantly higher than that of ultrasound soft markers(P<0.05). Conclusion: The detection rate of chromosomal abnormalities were high in fetuses with ultrasound soft markers and structural malformations. Karyotype analysis was recommended for fetuses with structural malformations, especially those with multiple structural malformations.