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目的:探讨孕11~13+6周胎儿多个超声指标联合母血清学指标在筛查染色体异常胎儿中的效果。方法:选取2008年1月~2013年1月间在该院妇产科进行联合筛查的孕妇1 640例,超声检测胎儿颈项部透明层厚度、鼻骨是否缺失、三尖瓣反流和静脉导管a波血流反向情况;同时用荧光免疫分析法检测孕妇血清β绒毛膜促性腺激素(β-hCG)和胎盘与蜕膜产生的大分子糖蛋白A(PAPP-A)水平,计算风险值,对筛查出的高风险孕妇进行绒毛活体组织检查(活检),检测胎儿染色体核型,分析染色体异常胎儿的超声特点。结果:染色体核型正常的1 629例胎儿中,活产儿1 611例,29例胎儿由于各种原因在孕中期引产,其中染色体核型正常伴有先天性心脏病的胎儿数15例,染色体异常11例,下消化道梗阻、脊柱裂、巨膀胱各1例。在染色体异常的胎儿中存在1例联合筛查结果为低风险,后经过产前诊断确诊为21-三体综合征胎儿。4例21-三体胎儿中有2例鼻骨缺失、2例三尖瓣反流、2例静脉导管a波反向、1例胎儿同时存在鼻骨缺失、三尖瓣反流和静脉导管a波血流反向;2例18-三体胎儿均为三尖瓣反流和静脉导管a波血流反向、1例胎儿合并鼻骨缺失;3例45X胎儿中1例存在静脉导管a波血流反向。1 629例正常胎儿中3例存在鼻骨缺失、16例存在三尖瓣反流、12例存在静脉导管a波血流反向。15例先天性心脏病胎儿中有11例存在三尖瓣反流、9例存在静脉导管a波血流反向。3例孕早期存在鼻骨缺失的正常核型胎儿在妊娠20周时进行超声检测均发现鼻骨。结论:孕11~13+6周联合筛选检出率高、假阳性率低,同时多项超声标记物和胎儿先天性心脏病可能相关,因此多个超声指标联合母血清学指标是目前比较理想的胎儿染色体异常筛查模式。
Objective: To investigate the effect of multiple ultrasound combined with maternal serum markers in fetus with chromosome abnormalities during pregnancy from 11 to 13 + 6 weeks. Methods: A total of 1 640 pregnant women undergoing joint screening in obstetrics and gynecology department from January 2008 to January 2013 were selected. The thickness of transparent layer of fetal neck, nasal bone loss, tricuspid regurgitation and intravenous catheter a wave reverse flow of blood flow; at the same time using fluorescent immunoassay to detect serum β-hCG and placenta and decidua of pregnant women produce large molecular weight glycoprotein A (PAPP-A) levels, calculate the risk value , The screening of high-risk pregnant women villus biopsy (biopsy), detection of fetal karyotype, analysis of fetal chromosomal abnormalities of ultrasound features. RESULTS: Of the 1 629 fetuses with normal karyotype, 1 611 were alive and 29 were fetuses at the second trimester due to various causes. There were 15 fetuses with normal karyotype and congenital heart disease, chromosomal abnormalities 11 cases, lower gastrointestinal obstruction, spina bifida, giant bladder in 1 case. In a chromosomal abnormality in the fetus there is a joint screening results for low risk, after prenatal diagnosis of 21-trisomy syndrome fetus. There were 2 cases of nasal bone loss in 2 cases of 21-trisomy, 2 cases of tricuspid regurgitation, 2 cases of reverse a-wave of venous catheter, 1 case of fetal nasal bone loss, tricuspid regurgitation and a-wave of venous catheter Flow reversal; 2 cases of 18-trisomy were tricuspid regurgitation and venous a-wave blood flow in the reverse, a case of fetal nasal bone missing; 1 case of 45X fetus in 3 cases there is a wave of venous catheter flow to. There were 3 cases of nasal bone loss in 3 of 6229 normal fetuses, tricuspid regurgitation in 16 cases, and a-wave aversion in 12 cases. In 15 cases of fetal congenital heart disease, there were 11 cases of tricuspid regurgitation, and 9 cases of venous catheter a wave reverse. The nasal bones were found in 3 cases of normal karyotype with missing nasal bone in the first trimester of pregnancy at 20 weeks gestation. Conclusion: The detection rate of combined screening during 11 ~ 13 + 6 weeks of gestation is high, the false positive rate is low. At the same time, a number of ultrasound markers and fetal congenital heart disease may be related, so multiple ultrasound combined with maternal serum markers is more ideal Fetal chromosomal abnormalities screening model.