论文部分内容阅读
目的研究妊娠中期母血清标志物甲胎蛋白、绒毛膜促性腺激素和游离雌三醇对21-三体综合征、18-三体综合征和神经管缺陷产前筛查的应用价值。方法对20 467例孕15-20+6周的孕妇采用时间分辨免疫荧光法检测孕妇血中的AFP、β-HCG和uE3浓度,通过评估软件计算危险值。对21-三体综合征和18-三体综合征高危的孕妇取羊水做染色体诊断,神经管缺陷高危者做超声检查。结果 20 467孕妇中筛查出21-三体高风险297例,占1.45%,136例进一步确诊,检出5例21-三体综合征,并发现异常妊娠9例;18-三体综合征高风险110例,占0.54%,有40例进一步确诊,检出3例18-三体综合征,并发现异常妊娠8例。NTD高风险105例,占0.51%,其中56例做超声检查,检出6例NTD,并发现异常妊娠16例。结论孕中期母血清三联作为21-三体综合征、18-三体综合征和NTD这三种重要出生缺陷的产前筛查,对降低出生缺陷、提高人口素质有积极的意义。
Objective To study the value of maternal serum markers of alpha-fetoprotein, chorionic gonadotropin and free estriol in the second trimester of pregnancy for prenatal screening of trisomy 21, trisomy 18 and neural tube defects. Methods A total of 20 467 pregnant women with gestational age 15-20 + 6 weeks were tested for the levels of AFP, β-HCG and uE3 in pregnant women by time-resolved immunofluorescence. The risk values were calculated by the evaluation software. On 21 - trisomy syndrome and 18 - trisomy syndrome, high risk pregnant women take amniotic fluid chromosome diagnosis, high risk of neural tube defects by ultrasound. Results A total of 20 467 pregnant women were screened for high risk of 21-trisomy in 297 cases (1.45%). 136 cases were further diagnosed and 5 cases of 21-trisomy and 9 cases of abnormal pregnancy were found. 18-trisomy syndrome high The risk of 110 cases, accounting for 0.54%, 40 cases were further diagnosed, detected in 3 cases of 18-trisomy syndrome and found abnormal pregnancy in 8 cases. There were 105 cases with high risk of NTD, accounting for 0.51%. Among them, 56 cases underwent ultrasonography, 6 cases of NTD were detected and 16 cases of abnormal pregnancy were found. Conclusion The trimester of trimester maternal serum as a prenatal screening for three major birth defects such as trisomy 21, trisomy 18 and NTD has a positive effect on reducing birth defects and improving population quality.