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目的:探讨提高产前筛查率、诊断率的方法。方法:时间分辨荧光免疫法检测样本中甲胎蛋白和游离β绒毛膜促性腺激素浓度,专用软件分析,得出胎儿患唐氏综合征(Down’s syndrome,DS)和开放性神经管缺陷(Open neural tube defectsONTD)的风险率,切割值分别为1/350和AFP MOM≥2.5。结果:筛查率由5.0%升到12.6%,泰山区(城区)达到了44.6%,产前诊断率由46.3%升到77.6%;因胎儿DS高风险,发现染色体异常胎儿45例,其中DS 8例和6例伴有畸形而引产;因ONTD高风险,确诊发育异常儿7例,均引产。结论:产前筛查和诊断是有效降低DS和ONTD患儿出生的有效措施,强化管理可有效提高产前筛查率、诊断率。
Objective: To explore ways to improve the rate of prenatal screening and diagnosis. Methods: Time-resolved immunofluorescence was used to detect the concentration of alpha-fetoprotein and free beta-chorionic gonadotropin in the samples. The software was used to analyze the relationship between Down’s syndrome (FDS) and open neural tube defects (Open neural tube defects ON, the cut-off values were 1/350 and AFP MOM ≧ 2.5, respectively. Results: The screening rate rose from 5.0% to 12.6%, Taishan District reached 44.6%, and the prenatal diagnosis rate rose from 46.3% to 77.6%. Due to the high risk of DS in fetus, 45 fetuses with chromosomal abnormalities were found, among which DS 8 cases and 6 cases with deformity and induced labor; due to the high risk of ONTD, diagnosed abnormal development in 7 cases, all induced labor. Conclusion: Prenatal screening and diagnosis are effective measures to reduce the birth of children with DS and ONTD. Intensive management can effectively increase the rate of prenatal screening and diagnosis.