超声检查在胎儿畸形筛查中的应用效果及与染色体异常相关性研究
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摘要
目的评价超声检查应用于胎儿畸形筛查的效果及胎儿畸形与染色体异常的相关性。方法从2012年1月～2017年10月我院接受产前筛查的孕妇中选取1000例为观察对象,回顾分析孕妇超声检查胎儿畸形筛查结果,并分析胎儿畸形与染色体异常存在的关系。结果产后显示受检者中共有16例畸形胎儿,超声检查共检出15例,准确率为93.75%(15/16),漏诊率为6.25%(1/16);15例畸形胎儿均引产,与大体标本观察结果比较,超声诊断符合率为93.75%;先天性足或手畸形、四肢短小发生率最高,所占比例分别为40.00%、13.33%;10例行胎儿染色体检查,提示染色体正常为7例(70.00%),染色体异常为3例(30.00%)。结论超声检查中,胎儿畸形显示存在典型图像特征,可获得较高检出率,胎儿肢体畸形常与染色体异常存在一定相关性。
Objective To evaluate the effect of ultrasonography on fetal malformation screening and the correlation between fetal malformation and chromosomal abnormalities. Methods From January 2012 to October, 1000 pregnant women who received prenatal screening in our hospital in October were selected as the observation subjects. We retrospectively analyed ultrasound screening fetal malformations screening results. The relationship between fetal malformation and chromosomal abnormality was also analyzed. Results After postpartum, 16 cases of malformed fetus were found, 15 cases were detected by ultrasonic examination,the accuracy rate was 93.75%(15/16), the rate of missed diagnosis was 6.25%(1/16); 15 cases of malformed fetuses were induced. Compared with the general sample observation results, the coincidence rate of ultrasonic diagnosis was 93.75%; for congenital foot or hand deformity, the incidence of short limbs was the highest, the proportion was 40% and 13.33%, respectively; The abnormal rate of abnormal heart system and nervous system was the highest, the proportion was 40%, 33.33%, respectively. Conclusion In ultrasonic examination, the fetal malformation shows typical image features, high detection rate can be obtained, fetal malformation is often associated with chromosomal abnormalities.
Objective To evaluate the effect of ultrasonography on fetal malformation screening and the correlation between fetal malformation and chromosomal abnormalities. Methods From January 2012 to October, 1000 pregnant women who received prenatal screening in our hospital in October were selected as the observation subjects. We retrospectively analyed ultrasound screening fetal malformations screening results. The relationship between fetal malformation and chromosomal abnormality was also analyzed. Results After postpartum, 16 cases of malformed fetus were found, 15 cases were detected by ultrasonic examination,the accuracy rate was 93.75%(15/16), the rate of missed diagnosis was 6.25%(1/16); 15 cases of malformed fetuses were induced. Compared with the general sample observation results, the coincidence rate of ultrasonic diagnosis was 93.75%; for congenital foot or hand deformity, the incidence of short limbs was the highest, the proportion was 40% and 13.33%, respectively; The abnormal rate of abnormal heart system and nervous system was the highest, the proportion was 40%, 33.33%, respectively. Conclusion In ultrasonic examination, the fetal malformation shows typical image features, high detection rate can be obtained, fetal malformation is often associated with chromosomal abnormalities.
引文
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[10] 张婧,彭伟国,张海霞,等. “3+1”复合超声切面在胎儿心脏畸形筛查中的应用[J]. 医学影像学杂志,2018,28(1):134-137.
[11] 仇利,罗红.产前超声筛查中孕期胎儿心脏畸形对诊断染色体异常价值的Meta分析[J].中国介入影像与治疗学,2016,13(12):747-748.
[12] 黄苑铭,黄冬平,钟伟,等.超声诊断胎儿侧脑室扩张合并畸形及其与染色体异常的关系[J].中国医学影像学杂志,2017,25(8):617-618.
[13] 甘莉娟,张元珍,林莉,等.孕中期血清学、超声检查在胎儿染色体异常筛查中的应用[J].山东医药,2015,55(7):48-49.
[14] Pellegrino M, Visconti D, Catania VD, et al. Prenatal detection of megacystis: not always an adverse prognostic factor. Experience in 25 consecutive cases in a tertiary referral center, with complete neonatal outcome and follow-up [J]. J Pediatr Urol, 2017, 13(5): 486-487.
[15] 张冬梅,杨懿,康彦琳,等.胎儿超声软标记或结构畸形与染色体异常的关系探讨[J].实用妇产科杂志,2015,31(7):552-553.
[2] 王红鹄,杨军,韩舒,等.三血管及三血管气管切面在超声产前诊断胎儿心脏大血管畸形中的应用价值[J].中国临床医学影像杂志,2015,26(3):192-193.
[3] 罗德清,陈欣林,朱霞,等.产前超声和MRI在诊断胎儿畸形中的应用[J].中国医学影像技术,2016,32(4):586-587.
[4] 李彦,黄文起,林光耀.二维联合三维超声在产前早孕晚期胎儿心脏畸形诊断中的应用研究[J].医学影像学杂志,2017,27(9):1676-1677.
[5] 李霞,马向军.彩色多普勒超声诊断胎儿心脏畸形的临床价值分析[J].医学影像学杂志,2018,28(2):331-332.
[6] Rasmussen M, Olsen MS, Sunde L, et al. Positive predictive value and completeness of prenatally assigned International classification of disease-10 kidney anomaly diagnoses in the danish national patient registry [J]. Clin Epidemiol, 2016, 18(8): 9-10.
[7] 李霞,马向军. 彩色多普勒超声诊断胎儿心脏畸形的临床价值分析[J]. 医学影像学杂志,2018,28(2):331-333.
[8] Asplin N, Wessel H, Marions L, et al. Maternal emotional wellbeing over time and attachment to the fetus when a malformation is detected [J]. Sex Reprod Healthc, 2015, 6(3): 191-192.
[9] 罗平,姜凡,顾莉莉,等.早孕期规范化超声检查在胎儿畸形筛查中的应用价值[J].安徽医科大学学报,2015,12(9):657-658.
[10] 张婧,彭伟国,张海霞,等. “3+1”复合超声切面在胎儿心脏畸形筛查中的应用[J]. 医学影像学杂志,2018,28(1):134-137.
[11] 仇利,罗红.产前超声筛查中孕期胎儿心脏畸形对诊断染色体异常价值的Meta分析[J].中国介入影像与治疗学,2016,13(12):747-748.
[12] 黄苑铭,黄冬平,钟伟,等.超声诊断胎儿侧脑室扩张合并畸形及其与染色体异常的关系[J].中国医学影像学杂志,2017,25(8):617-618.
[13] 甘莉娟,张元珍,林莉,等.孕中期血清学、超声检查在胎儿染色体异常筛查中的应用[J].山东医药,2015,55(7):48-49.
[14] Pellegrino M, Visconti D, Catania VD, et al. Prenatal detection of megacystis: not always an adverse prognostic factor. Experience in 25 consecutive cases in a tertiary referral center, with complete neonatal outcome and follow-up [J]. J Pediatr Urol, 2017, 13(5): 486-487.
[15] 张冬梅,杨懿,康彦琳,等.胎儿超声软标记或结构畸形与染色体异常的关系探讨[J].实用妇产科杂志,2015,31(7):552-553.