CAJ | 학술논문

　　目的探讨孕中期血清学筛查的临床应用价值。方法选择检测25903例孕中期（15周-20+6周）孕妇血清中的甲胎蛋白（AFP），人绒毛膜促性腺激素β亚单位（β-H C G）和游离雌三醇（u E3）水平，结合软件进行风险评估，对于高风险孕妇经遗传咨询，知情同意，自愿选择行产前诊断，于孕18-24周左右在超声引导下进行羊膜腔穿刺，抽取羊水培养进行胎儿染色体核型分析。并追踪随访。结果25903例孕妇中，唐氏综合症筛查高分险574例，占筛查总数的2.2%，18-三体综合征44例，占筛查总数的0.16%，神经管缺陷80例，占筛查总数的0.3%。产前诊断确诊唐氏综合征4例，18-三体综合征3例，其他染色体异常17例。结论孕中期应用母血清三联生化指标进行产前筛查降低出生缺陷率是有效的，同时结合其他检查方法可提高产前筛查效果。
　　목적탐토잉중기혈청학사사적림상응용개치。방법선택검측25903례잉중기（15주-20+6주）잉부혈청중적갑태단백（AFP），인융모막촉성선격소β아단위（β-H C G）화유리자삼순（u E3）수평，결합연건진행풍험평고，대우고풍험잉부경유전자순，지정동의，자원선택행산전진단，우잉18-24주좌우재초성인도하진행양막강천자，추취양수배양진행태인염색체핵형분석。병추종수방。결과25903례잉부중，당씨종합증사사고분험574례，점사사총수적2.2%，18-삼체종합정44례，점사사총수적0.16%，신경관결함80례，점사사총수적0.3%。산전진단학진당씨종합정4례，18-삼체종합정3례，기타염색체이상17례。결론잉중기응용모혈청삼련생화지표진행산전사사강저출생결함솔시유효적，동시결합기타검사방법가제고산전사사효과。
Objective To study the mid pregnancy serological screening value of clinical application. Method Choose 25903 cases of mid pregnancy pregnant women (15-20+6 weeks) in the serum AFP (AFP), human chorionic gonadotropin (beta HCG) beta subunits and free estriol (uE3) levels, combined with the software for risk assessment, for high-risk pregnant women by genetic counsel ing, informed consent and voluntary choice to prenatal diagnosis, in 18 to 24 weeks pregnant in amniotic cavity puncture under ultrasound guidance, extraction of the amniotic fluid culture for fetal karyotype analysis. And fol ow-up. Results Of 25903 cases of pregnant women, 574 cases of high risk for down syndrome screening, accounting for 2.2% of the total number of screening, 18 to 44 three body syndrome cases, accounting for 0.16% of the total number of screening, 80 cases of neural tube defects,0.3% of the total number of screening. Prenatal diagnosis of down's syndrome diagnosis in 4 cases, 18 - three body syndrome in 3 cases, 17 cases of other chromosomal abnormalities. Conclusion Mid pregnancy application sanlian biochemical indexes prenatal serum screening to reduce birth defects are effective, and can improve the effect of prenatal screening in combination with other methods.