无创产前诊断在产前筛查后续诊断的临床实施与综合效益分析  

Clinical usage and comprehensive benefits analysis of noninvasive prenatal diagnosis combined with serum screening

作　　者：邱洁[1] 杨晓华[1] 邓细娣 方虹[1] 陈熙[1] 吴琼玲[1] 

机构地区：[1]深圳市宝安区妇幼保健院产前诊断中心,518133 [2]深圳市罗湖区中医院莲塘医院,518001

出　　处：《中国优生与遗传杂志》2013年第7期21-23,26,共4页Chinese Journal of Birth Health & Heredity

基　　金：深圳市科技计划项目编号:201103048

摘　　要：目的探讨孕期适时机会有效产前筛查联合产前胎儿染色体非整倍体(NTFTY)无创基因检测的临床路径及干预模式,提高对染色体疾病的检出率、防漏率,降低出生缺陷。方法自2011年1月至2013年3月适时机会血清学筛查,采用时间分辨免疫荧光法检测,血清学联合二联筛查早孕9-13+6w,妊娠相关蛋白PAPP-A和游离β-HCG,中孕15-20+6w三联筛查甲胎蛋白AFP、游离β-HCG,游离E3检测激素水平,各单项指标参考范围:PAPP-A 0.43-5MOMAFP 0.65-2.5MOM,Tree-HCG 0.25-2.5MOM uE≥0.7MOM,应用Multicalc软件评估风险值。超声系统三级筛查(20-28w)。结果血清学筛查出21三体、18三体高风险2011年1月-2013年-3月分别为690(7.71)∶856(6.37),268(6.22)例。临界风险分别为1381(14.36),1899(14.14),602(13.99)例。单项值异常分别为1537(15.37),2148(15.99),684(15.89)例。无创产前诊断分别为132(1.37),1489(11.09),1387(89.56)例。有创产前诊断分别为572(15.85),731(14.90),187(12.02)例。染色体异常共78例,终止妊娠78例。超声筛查共37261例,其中重度畸形478(1.28)例,单纯畸形226(0.60)例,超声软指标异常12392(33.25)例,选择无创产前诊断2357(17.99)例。有创产前诊断158(1.20)例,染色体异常53(0.40)例,终止妊娠663(5.06)例,无创检测高风险例数经羊水再次核型分析一致性达100%。P<0.05作为差异有统计学意义。结论产前血清学、超声有效筛查联合产前胎儿染色体非整倍体无创基因检测方法安全、快捷、有效、可提高产前诊断率,确诊率,调查表明,应用于临界风险、单项值异常可提高防漏率,效降低出生缺陷发生。Objective： To investigate the clinical usage and intervention model of noninvasive fetal trisomy（NIFTY） test combining with maternal serum screening,improving detectable rate and decreasing the birth defect.Method： In due time from Jan.2011 to Mar.2013,bigeminy maternal serum screening including PAPPA（normal range： 0.43-5 MOM） and free β-HCG（0.25 2.5MOM） in the first prenancy 9-13＋ 6 weeks,trigeminy maternal serum screening including AFP（0.65-2.5MOM）,free β-HCG and free Estriol（E3≥0.7MOM） in the second prenancy 15-20＋ 6 were carried out by time-resolved immunofluorescence assay,and ultrasound screening was used in 20-28 weeks.The risk was estimated by software Multicalc.Result： High risk of 21-trisome,18 trisome and 13-trisome were 690（7.71）,856（6.37） and 268（6.22）;Critical risk were 1381（14.36）,1899（14.14） and 602（13.99）;Single item abnormality were 1537（15.37）,2148（15.99） and 684（15.89）.Non-invasive prenatal diagnosis were 132（1.37）,1489（11.09） and 1387（89.56）;invasive prenatal diagnosis were 572（15.85）,731（14.90） and 187（12.02）.Chromosome abnormalty were 78 cases and termination of pregnancy were 78 cases.37261 cases were screened by ultrasound and found 478（1.28） severe deformity,226（0.60） single deformity,12392（33.25） soft index unusual,in which 2357（17.99） chose non-invasive prenatal diagnosis,158（1.20） chose invasive prenatal diagnosis,53（0.40） were aberrant chromasome,663（5.06） chose termination of pregnancy.The consistency of non-invasive prenatal diagnosis and karyotype analysis of amniotic fluid was 100%.Conclusion： Fatal aneuploid could be found safely,rapidly,effectively and correctly by the combination of serum screening,ultrasound and non-invasive prenatal diagnosis.If used in cases with critical and single item abnormality,these methods may decrease birth defects.

关 键 词：产前筛查 后续诊断 无创产前诊断 临床应用 综合效益 

分 类 号：R714.55[医药卫生—妇产科学]