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唐氏综合征血清学在孕早中期产前筛查胎儿染色体异常中的应用 被引量:17

Application of Down syndrome serology in the prenatal screening of fetal chromosomal abnormalities in the first and middle trimester
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摘要 目的探讨唐氏综合征血清学在孕早中期产前筛查胎儿染色体异常中的应用。方法对2015年5月至2017年5月中山市黄圃人民医院检验科收治的780例孕妇的临床资料进行统计分析。结果 780例孕妇中,唐氏综合征血清学检测阳性14例,阴性766例,阳性率为1.8%。确诊为胎儿染色体异常5例。阳性孕妇的正常妊娠率1.2%(9/780)显著低于阴性孕妇98.1%(765/780)(P<0.05),异常妊娠率0.6%(5/780)显著高于阴性孕妇0.1%(1/780)(P<0.05)。异常妊娠孕早期孕妇的血浆β-HCG水平显著高于正常妊娠孕早期孕妇(P<0.05),PAPP-A水平显著低于正常妊娠孕早期孕妇(P<0.05)。异常妊娠孕中期孕妇的血浆β-HCG、AFP、Inhibitin A水平均显著高于正常妊娠孕中期孕妇(P<0.05),E3水平显著低于正常妊娠孕中期孕妇(P<0.05)。唐氏综合征血清学检测在孕早期产前筛查中的敏感度、特异度、准确度、阳性预测值、阴性预测值分别为75.0%(3/4)、99.5%(432/434)、99.3%(435/438)、40.0%(2/5)、99.8%(432/433);唐氏综合征血清学检测在孕中期产前筛查中的敏感度、特异度、准确度、阳性预测值、阴性预测值分别为100.0%(3/3)、97.9%(332/339)、98.0%(335/342)、70.0%(7/10)、100.0%(332/332)。结论唐氏综合征血清学在孕早中期产前筛查胎儿染色体异常中的应用价值高。 Objective:To investigate the application of Down′s syndrome serology in the prenatal screening of fetal chromosomal abnormalities in the first and middle trimester. Methods:The clinical data of 780 cases of pregnant women admitted to Huangpu people′s Hospital of Zhongshan from May 2015 to May 2017 were statistically analyzed. Results:Among the 780 cases of pregnant women,14 cases were positive for Down syndrome serological detection and 766 cases were negative,the positive rate was 1.8%. 5 cases of fetal chromosomal abnormalities were diagnosed. The normal pregnancy rate of the positive pregnant women 1.2%(9/780)was significantly lower than the negative pregnant women 98.1%(765/780)(P〈0.05),and the abnormal pregnancy rate 0.6%(5/780)was significantly higher than the negative pregnant women 0.1%(1/780)(P〈0.05). The plasma β-HCG level of the pregnant women with abnormal pregnancy was significantly higher(P〈0.05),and the PAPP-A level was significantly lower than the normal pregnant women in the early stage of pregnancy(P〈0.05). The plasma β-HCG,AFP and Inhibitin A levels of pregnant women in the second trimester of pregnancy were significantly higher than the normal pregnant women in the second trimester(P〈0.05),and the E3 level was significantly lower than the normal pregnant women in the second trimester.The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of serological detection of Down syndrome in early pregnancy prenatal screening were 75.0%(3/4),99.5%(432/434),99.3%(435/438),40.0%(2/5),99.8%(432/433);The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of serological detection of Down syndrome in the second trimester prenatal screening were 100.0%(3/3),97.9%(332/339),98.0%(335/342),70.0%(7/10),100.0%(332/332). Conclusion:The application value of Down′s syndrome serology is of high value in the prenatal screening of fetal chromosomal abnormalities in the first and middle trimester.
作者 冯广满 詹前柱 蒋旺珍 FENG Guang-man;ZHAN Qian-zhu;JIANG Wang-zhen.(Department of Laboratory, Zhongshan Huangpu People's Hospital, Zhongshan 528429, Guangdong, Chin)
出处 《中国优生与遗传杂志》 2018年第6期56-58,共3页 Chinese Journal of Birth Health & Heredity
关键词 唐氏综合征血清学 孕早中期产前筛查 胎儿染色体异常 Down's syndrome serology Prenatal screening in the first and middle trimester Fetal chromosomal abnormalities
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