孕早期不同超声异常指标在筛查胎儿染色体异常中的临床价值

发布时间：2018-06-11 16:21

本文选题：孕早期 + 超声异常指标　；参考：《中国医学前沿杂志(电子版)》2017年02期

【摘要】：目的探讨孕早期不同超声异常指标在筛查胎儿染色体异常中的临床价值。方法选取2006年4月至2016年4月于本院产检的孕早期(孕11~14周)孕妇为研究对象,超声检查发现胎儿异常孕妇147例,所有孕妇均行羊水与绒毛染色体核型分析。统计分析不同超声异常指标对应的胎儿染色体异常检出率。结果孕早期超声异常指标包括心脏畸形、全身皮肤水肿、鼻骨异常、静脉导管a波倒置、颈部淋巴水囊瘤、颈部透明层(nuchal translucency,NT)增厚及脐膨出。心脏畸形的染色体异常检出率为80.00%(8/10),以18-三体与21-三体为主;全身皮肤水肿的染色体异常检出率为68.00%(17/25),以18-三体、45,X、21-三体为主;鼻骨异常的染色体异常检出率为75.00%(6/8),以18-三体、21-三体为主;静脉导管a波倒置的染色体异常检出率为71.43%(5/7),以21-三体、18-三体、45,X为主;颈部淋巴瘤的染色体异常检出率为66.67%(6/9),以45,X、21-三体为主;NT增厚的染色体异常检出率为37.80%(31/82),以21-三体、45,X、18-三体为主;脐膨出的染色体异常检出率为66.67%(4/6),以21-三体、45,X、18-三体为主。结论心脏畸形、全身皮肤水肿、NT增厚、颈部淋巴水囊瘤是染色体异常检出率最高的4种孕早期超声异常指征。同时合并与染色体异常相关的早孕期超声异常指征越多,染色体异常检出率越高。
[Abstract]:Objective to investigate the clinical value of different ultrasound abnormal indexes in early pregnancy in screening fetal chromosome abnormalities. Methods from April 2006 to April 2016, 147 pregnant women with fetal abnormalities were examined in our hospital from April 2006 to April 2016. The chromosome karyotypes of amniotic fluid and villi were analyzed in all pregnant women. The detection rate of fetal chromosomal abnormalities corresponding to different ultrasonic abnormalities was statistically analyzed. Results in early pregnancy, the abnormal indexes of ultrasound included cardiac malformation, systemic skin edema, abnormal nasal bone, inversion of a wave of venous catheter, cervical lymphatic sac tumor, thickening of transparent layer of neck (NTN) and umbilical herniation. The detection rate of chromosomal abnormality in cardiac malformation was 80.005 / 10, mainly in 18-trisomy and 21-trisomy, in the case of systemic skin edema, the detection rate of chromosome abnormality was 68.00 / 25, and that of 18-trisomy was 45X / 21- trisomy. The detection rate of abnormal chromosome in nasal bone was 75.00 / 8, mainly in 18-trisomy 21- trisomy, 71.43A wave inversion was 71.43T / 7, in 21-trisomy 18-trisomy 45X; The detection rate of chromosomal abnormality in cervical lymphoma was 66.67 / 60.The detection rate of chromosome abnormality with NT thickening was 37.80 / 82, that of 21- trisomy 45 was mainly trisomy 18, that of umbilical exudation was 66.674r-1 / 6, and that of trisomy 21- trisomy was 45X / 18- trisomy 45.The detection rate of chromosomal abnormality was 66.674r-1 / 6m, and that of T-trisomy 45-trisomy was 66.674r-1 / 69.The detection rate of chromosomal abnormality was 37.80m / 82a, 45.5X / 18-trisomy was dominant. Conclusion Cardiac malformation, systemic skin edema and NT thickening, cervical lymphoid sac tumor are the highest detection rate of chromosomal abnormalities in early pregnancy. At the same time, the more signs of abnormal ultrasound in early pregnancy associated with chromosomal abnormalities, the higher the detection rate of chromosomal abnormalities.
【作者单位】：湖南省妇幼保健院超声科;
【分类号】：R714.5;R445.1

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