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

The clinical value of different ultrasonographic abnormalities during early pregnancy in screening fetal chromosomal abnormalities

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。

Objective To investigate the clinical value of different ultrasound abnormalities during early pregnancy in screening fetal chromosomal abnormalities. Method Selected 147 pregnant women with abnormal fetus detected by ultrasound in our hospital from April 2006 to April 2016 in the first trimester of pregnancy （gestational age from 11 to 14 weeks）. All the pregnant women were analyzed for the karyotype of amniotic fluid or villus. The detection rate of abnormal chromosome in abnormal fetus was statistically analysed. Result Early pregnancy ultrasound abnormality indexes including cardiac malformation, skin edema, nasal catheter, ductus venosus reverse in a wave, the cervical lymphatic hygroma, nuchal translucency （NT） thickening and acromphalus. Chromosomal abnormalities detection rate of cardiac malformation was 80.00% （8/10）, with trisomy 18 and trisomy 21; chromosomal abnormalities detection rate of skin edema was 68.00% （17/25）, with trisomy 18, 45, X and trisomy 21; chromosomal abnormalities detection rate of nasal abnormal was 75.00% （6/8）, with trisomy 18 and trisomy 21; chromosomal abnormalities detection rate of ductus venosus reverse in a wave was 71.43% （5/7）, with trisomy 21 and trisomy 18, and 45, X; chromosomal abnormalities detection rate of cervical lymphoma was 66.67% （6/9）, with 45, X and trisomy 21; chromosomal abnormalities detection rate of NT thickening was 37.80% （31/82）, with trisomy 21, 45, X, and trisomy 18;chromosomal abnormalities detection rate of omphalocele was 66.67% （4/6）, with trisomy 21, 45, X, and trisomy 18. Conclusion Abnormal early pregnancy ultrasound prenatal ultrasound is most often detected with cardiac malformation, skin edema, NT thickening and cervical lymphoma,with more of these indicators appearing at the same time the higher the incidence of chromosome abnormality is.