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目的:对怀孕16到34周的超声筛查胎儿鼻骨缺失在染色体异常诊断中应用价值进行分析探讨。方法:选取某医院通过超声筛查法所检测出的25例鼻骨缺失胎儿进行染色体检查,随后对其引产或胎儿出生后进行随访,并对鼻骨缺失胎儿的超声图像特征进行总结。结果:经超声检测显示:1)25例患儿中有20例胎儿双侧鼻骨缺失,具体包括了7例出现了合并多发畸形,3例出现了心脏畸形,2例十二指肠梗塞,其他均为一些如肠管回声增强和股骨及肱骨短等微小结构异常。对不同病症胎儿的超声检测图像均显示出了不同的特征;2)5例为单侧鼻骨缺失,其中4例为合并心脏畸形,1例为微小结构异常。3)随即对其进行的染色体检查,结果显示在18例双侧鼻骨缺失胎儿中,10例为21三体,6例为正常核型,2例为4P-综合征;4)产后检查及随访调查:对25例胎儿在超声及染色体检查后顺利引产的有17例,出生的有8例,随访过程中6例未出现异常现象,2例失访,经过超声检测的17例胎儿检测结果同产后结果相同。结论:对于中晚期鼻骨缺失胎儿,在前期超声检测过程中具有单侧或双侧鼻骨强回声缺失的图像特征,而且部分多伴有微小的结构异常症状,对于检测出存在问题的胎儿,为有效地减少21-三体异常胎儿的出生,要及时的进行染色体核型分析。
OBJECTIVE: To analyze the value of fetus nasal bone defect in the diagnosis of chromosomal abnormalities during 16 to 34 weeks of pregnancy by ultrasound screening. Methods: Twenty - five cases of nasal defect fetuses detected by ultrasound screening were selected for chromosomal examination in a hospital, followed by induction of labor or fetus after birth, and the characteristics of ultrasound images of missing fetus of nasal bone were summarized. Results: Ultrasound examination showed that: 1) There were 20 cases of bilateral nasal bone loss in 25 cases, including 7 cases of combined multiple deformities, 3 cases of cardiac deformity, 2 cases of duodenal infarction and other Some are, for example, small bowel echo enhancement and femoral and humeral short structural abnormalities. Ultrasound images of fetuses with different illnesses showed different characteristics; 2) 5 patients had unilateral nasal bone loss, of which 4 were complicated by cardiac malformations and 1 was microscopical abnormalities. 3) The chromosomal examination was performed immediately. The results showed that in 18 cases of bilateral nasal bone missing fetuses, 10 had 21 trisomy, 6 had normal karyotype, and 2 had 4P-syndrome. 4) Postpartum examination and follow-up Survey: 25 fetuses in the ultrasound and chromosomal examination after successful induction of labor in 17 cases, 8 were born, during follow-up 6 cases showed no abnormalities, 2 cases were lost to follow-up ultrasound test results of 17 fetuses with the same The same result after delivery. CONCLUSIONS: In the late stage of nasal bone missing fetus, there is the image feature of unilateral or bilateral nasal hyperechoic during the pre-sonographic examination, and some of them are accompanied by slight structural abnormalities, which are effective for detecting fetuses with existing problems To reduce the 21-trisomy abnormal fetal birth, timely chromosome karyotype analysis.