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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 explore the clinical pathway and intervention model of effective prenatal screening combined with NTFTY noninvasive genetic testing during pregnancy to improve the detection rate of chromosomal diseases, the leak rate and reduce the birth defects. Methods From January 2011 to March 2013, the patients were screened for serological risk by time-resolved immunofluorescence method. Serological combined with duplex screening of 9-13 + 6 w of early pregnancy, pregnancy-associated protein PAPP-A and free β- HCG, 15-20 + 6w trimester screening of alpha fetoprotein AFP, free beta-HCG, free E3 hormone levels, the individual reference range: PAPP-A 0.43-5MOMAFP 0.65-2.5MOM, Tree-HCG 0.25- 2.5MOM uE ≥ 0.7MOM, Multicalc software to assess the risk value. Ultrasound system three screening (20-28w). Results Serological screening of trisomy 21 and trisomy 18 showed a high risk of 690 (7.71): 856 (6.37) and 268 (6.22) cases from January 2011 to March 2013 respectively. The critical risks are 1381 (14.36), 1899 (14.14) and 602 (13.99) respectively. Individual anomalies were 1537 (15.37), 2148 (15.99), 684 (15.89) cases. Noninvasive prenatal diagnosis was 132 (1.37), 1489 (11.09), 1387 (89.56) cases. The prenatal diagnosis was 572 (15.85), 731 (14.90) and 187 (12.02) respectively. 78 cases of chromosomal abnormalities, 78 cases of termination of pregnancy. A total of 37,261 cases were screened by ultrasound, including 478 (1.28) cases of severe deformity, 226 (0.60) cases of simple deformity and 12392 (33.25) cases of abnormal ultrasound soft indexes. 2357 cases (17.99) were diagnosed by noninvasive prenatal diagnosis. There were 158 (1.20) cases of prenatal diagnosis, 53 (0.40) cases of chromosomal abnormalities, and 663 (5.06) cases of termination of pregnancy. The number of noninvasive detection of high-risk cases was again 100% consistent with amniotic fluid karyotype analysis. P <0.05 as the difference was statistically significant. Conclusion Prenatal serology and ultrasound screening combined with prenatal fetal chromosomal aneuploidy noninvasive gene detection method is safe, fast and effective, which can increase the rate of prenatal diagnosis and diagnosis. The survey shows that the method applied to critical risk, abnormal single item Can improve the leakage rate, reduce birth defects effectively.