8635例孕中期唐氏综合征筛查结果分析
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摘要
目的分析孕中期行唐氏综合征的血清学的产前筛查和无创的产前基因筛查的结果,为临床上孕中期的临床的唐氏筛查的检验提供相关参考。方法以2016年9月至2018年9月于我院行产前检查的8635例的15-20w的孕妇作为研究对象,并进行MSAFP、Free-β-HCG、uE3、Inhibin-A的血清学检测,结合孕妇的年龄等各因素计算21-三体综合征、18-三体综合征、开放性神经管缺陷的风险系数,并对高风险的孕妇进行外周血的无创基因诊断检测和超声检查。整合相关检查和结局资料行统计分析。结果 8635例孕妇中,有低风险孕妇8122例,高风险孕妇523例,阳性检出率为6.06%(523/8635)。其中唐氏综合征阳性有353例,阳性率为4.09%(353/8635);18-三体综合征阳性有33例,阳性率为0.38%(33/8635),NTDs阳性有137例,阳性率为1.59%(137/8635)。≥35岁的孕妇的阳性检出率高于<35岁的孕妇(P<0.05)。对筛查高风险而未接受产前诊断的287例孕妇进行随访,成功随访到196例孕妇,随访率为68.3%(196/287),发现不良的妊娠的结局有11例,其中唐氏综合征有2例。随访低风险的孕妇发现唐氏综合征有3例,漏筛率为3/8122。Logistic回归分析结果提示年龄、lgh-CG-MoM是唐氏综合征的重要的危险因素,而lgAFP-MoM、LgμE3-MoM是唐氏综合征的保护因素(P均<0.05)。结论孕中期使用血清学产前筛查及无创产前基因筛查、超声检查对唐氏综合征的诊断效果较为明显,可有效降低唐氏综合征患儿的出生率。
Objective:To analyze the results of prenatal screening and non-invasive prenatal genetic screening for the diagnosis of Down's syndrome in the second trimester pregnancy,and to provide reference for clinical Down's screening test in the second trimester pregnancy.Methods:A total of 8635 women aged 15-20 weeks who underwent prenatal examination in our hospital from September 2016 to September 2018 were enrolled in the study.Serological studies of MSAFP,Free-β-HCG,uE3,and Inhibin-A were performed.The risk factors of 21-trisomy syndrome,18-trisomy syndrome,and open neural tube defects were calculated by combining the factors such as the age of the pregnant women,and the non-invasive genetic diagnosis and ultrasonography of peripheral blood were performed on high-risk pregnant women.Integrate relevant inspections and statistical analysis of the final data.Results:Among 8635 pregnant women,8122 were low-risk pregnant women and 523 were high-risk pregnant women.The positive detection rate was 6.06%(523/8635).Among them,353 cases were positive for DS,the positive rate was 4.09%(353/8635);33 cases were positive for 18-trisomy syndrome,the positive rate was 0.38%(33/8635),and 137 cases were positive for NTDs,the positive rate was 1.59%(137/8635).The positive detection rate of pregnant women aged ≥35 years was higher than that of pregnant women<35 years old(P<0.05).287 pregnant women who were screened for highrisk unprepared diagnosis were followed up.196 pregnant women were followed up.The follow-up rate was 68.3%(196/287).11 cases of adverse pregnancy outcomes were found,including 2 cases of Down syndrome.3 cases with Down syndrome were found in low-risk pregnant women,and the screening rate was 3/8122.Logistic regression analysis showed that age and lgh-CG-MoM were risk factors for Down's syndrome,while lgAFP-MoM and LgμE3-MoM were protective factors for Down's syndrome(P<0.05).Conclusion:The use of serological prenatal screening and non-invasive prenatal genetic screening and ultrasonography in the second trimester is more effective in the diagnosis of Down's syndrome,which can effectively reduce the birth rate of children with Down syndrome.
Objective:To analyze the results of prenatal screening and non-invasive prenatal genetic screening for the diagnosis of Down's syndrome in the second trimester pregnancy,and to provide reference for clinical Down's screening test in the second trimester pregnancy.Methods:A total of 8635 women aged 15-20 weeks who underwent prenatal examination in our hospital from September 2016 to September 2018 were enrolled in the study.Serological studies of MSAFP,Free-β-HCG,uE3,and Inhibin-A were performed.The risk factors of 21-trisomy syndrome,18-trisomy syndrome,and open neural tube defects were calculated by combining the factors such as the age of the pregnant women,and the non-invasive genetic diagnosis and ultrasonography of peripheral blood were performed on high-risk pregnant women.Integrate relevant inspections and statistical analysis of the final data.Results:Among 8635 pregnant women,8122 were low-risk pregnant women and 523 were high-risk pregnant women.The positive detection rate was 6.06%(523/8635).Among them,353 cases were positive for DS,the positive rate was 4.09%(353/8635);33 cases were positive for 18-trisomy syndrome,the positive rate was 0.38%(33/8635),and 137 cases were positive for NTDs,the positive rate was 1.59%(137/8635).The positive detection rate of pregnant women aged ≥35 years was higher than that of pregnant women<35 years old(P<0.05).287 pregnant women who were screened for highrisk unprepared diagnosis were followed up.196 pregnant women were followed up.The follow-up rate was 68.3%(196/287).11 cases of adverse pregnancy outcomes were found,including 2 cases of Down syndrome.3 cases with Down syndrome were found in low-risk pregnant women,and the screening rate was 3/8122.Logistic regression analysis showed that age and lgh-CG-MoM were risk factors for Down's syndrome,while lgAFP-MoM and LgμE3-MoM were protective factors for Down's syndrome(P<0.05).Conclusion:The use of serological prenatal screening and non-invasive prenatal genetic screening and ultrasonography in the second trimester is more effective in the diagnosis of Down's syndrome,which can effectively reduce the birth rate of children with Down syndrome.
引文
[1]李建平,马健,李超.成都市锦江区2008年-2013年孕中期唐氏综合征妊娠流行病学队列分析[J].中国优生与遗传杂志,2015,18(3):2-4.
[2]李荔荔,刘冰,杨柳,等.沈阳市人群唐氏综合征儿发生状况流行病学调查[J].中国妇幼保健,2011,26(3):417-418.
[3]钱晓娟,鲁文育,周新明,等.6840例孕中期唐氏综合征筛查结果分析[J].中国优生与遗传杂志,2018,13(3):13-16.
[4]常乐,王平.唐氏综合征及神经管缺陷产前筛查、诊断的研究[J].中国实验诊断学,2013,11(1):1543-1544.
[5]谢晓媛,刘霞,辛力,等.无创DNA检测在双胎唐氏综合征产前筛查中应用价值研究[J].中国实用妇科与产科杂志,2018,9(6):12-14.
[6]Wee L K,Miin L,Supriyanto E.Automated risk calculation for trisomy 21 based on maternal serum markers using trivariate lognormal distribution[J].Trisomy Maternal Serum Maternal Health Data Trivariate Distribution,2010,10(4):327-332.
[7]钟小林,李力,易萍,等.1836例孕中期唐氏综合征产前筛查与诊断的临床研究[J].重庆医学,2009,38(16):2025-2026.
[8]柏如海,章琦,王玲玲,等.2010-2013年西安市新生儿出生缺陷发生状况及其影响因素研究[J].中国全科医学,2016,19(26):3149-3152.
[9]王艳丽.天津市1200例孕中期孕妇唐氏综合征的筛查分析[J].中国妇幼保健,2017,32(16):3869-3871.
[10]崔淑衡,蔡羽薇,余颀,等.2010-2015年宁波市唐氏综合征危险因素的Logistic分析[J].中国妇幼保健,2016,31(22):4847-4850.
[11]付久园,肖艳平,王红杰,等.唐氏综合征产前血清标记物筛查的探讨[J].河北医学,2017,33(12):2010-2013.
[12]柳芳,梁红艳,李艳丽,等.妊娠中期血清标记物检测在唐氏综合征产前筛查中的意义[J].哈尔滨医科大学学报,2012,46(4):367-369.
[13]Savvidou M D,Syngelaki A,Muhaisen M,et al.First trimester maternal serum freeβ-human chorionic[14]gonadotropin and pregnancy-associated plasma protein A in pregnancies complicated by diabetes mellitus[J].Bjog An International Journal of Obstetrics&Gynaecology,2012,119(4):410-416.
[15]褚楠,张月萍,张斌.高龄孕妇生育唐氏综合征患儿机制的研究进展[J].中华医学遗传学杂志,2016,33(6):863-866.
[16]吴丹艳,郑柳莎,曲新国.唐氏综合征筛查高风险与社会危险因素的相关性研究[J].中国优生与遗传杂志,2017,15(2):37-38.
[17]辛娟,黄丽燕,杨文方,等.孕期综合性筛查技术评估唐氏综合征风险[J].中国妇幼健康研究,2017,28(10):30-32.
[18]汪艳丽,郭亚清.高通量测序技术在唐氏综合征产前筛查中的应用及研究进展[J].中国优生与遗传杂志,2017,16(3):7-9.
[19]陈剑虹,梁艳,李辉,等.惠州地区22671例孕妇孕早中期唐氏综合征产前筛查结果分析[J].中国妇幼健康研究,2017,28(6):713-716.
[20]张洁,王斌,钱序,等.我国唐氏综合征的疾病经济负担[J].中国卫生经济,2005,24(7):51-53.
[2]李荔荔,刘冰,杨柳,等.沈阳市人群唐氏综合征儿发生状况流行病学调查[J].中国妇幼保健,2011,26(3):417-418.
[3]钱晓娟,鲁文育,周新明,等.6840例孕中期唐氏综合征筛查结果分析[J].中国优生与遗传杂志,2018,13(3):13-16.
[4]常乐,王平.唐氏综合征及神经管缺陷产前筛查、诊断的研究[J].中国实验诊断学,2013,11(1):1543-1544.
[5]谢晓媛,刘霞,辛力,等.无创DNA检测在双胎唐氏综合征产前筛查中应用价值研究[J].中国实用妇科与产科杂志,2018,9(6):12-14.
[6]Wee L K,Miin L,Supriyanto E.Automated risk calculation for trisomy 21 based on maternal serum markers using trivariate lognormal distribution[J].Trisomy Maternal Serum Maternal Health Data Trivariate Distribution,2010,10(4):327-332.
[7]钟小林,李力,易萍,等.1836例孕中期唐氏综合征产前筛查与诊断的临床研究[J].重庆医学,2009,38(16):2025-2026.
[8]柏如海,章琦,王玲玲,等.2010-2013年西安市新生儿出生缺陷发生状况及其影响因素研究[J].中国全科医学,2016,19(26):3149-3152.
[9]王艳丽.天津市1200例孕中期孕妇唐氏综合征的筛查分析[J].中国妇幼保健,2017,32(16):3869-3871.
[10]崔淑衡,蔡羽薇,余颀,等.2010-2015年宁波市唐氏综合征危险因素的Logistic分析[J].中国妇幼保健,2016,31(22):4847-4850.
[11]付久园,肖艳平,王红杰,等.唐氏综合征产前血清标记物筛查的探讨[J].河北医学,2017,33(12):2010-2013.
[12]柳芳,梁红艳,李艳丽,等.妊娠中期血清标记物检测在唐氏综合征产前筛查中的意义[J].哈尔滨医科大学学报,2012,46(4):367-369.
[13]Savvidou M D,Syngelaki A,Muhaisen M,et al.First trimester maternal serum freeβ-human chorionic[14]gonadotropin and pregnancy-associated plasma protein A in pregnancies complicated by diabetes mellitus[J].Bjog An International Journal of Obstetrics&Gynaecology,2012,119(4):410-416.
[15]褚楠,张月萍,张斌.高龄孕妇生育唐氏综合征患儿机制的研究进展[J].中华医学遗传学杂志,2016,33(6):863-866.
[16]吴丹艳,郑柳莎,曲新国.唐氏综合征筛查高风险与社会危险因素的相关性研究[J].中国优生与遗传杂志,2017,15(2):37-38.
[17]辛娟,黄丽燕,杨文方,等.孕期综合性筛查技术评估唐氏综合征风险[J].中国妇幼健康研究,2017,28(10):30-32.
[18]汪艳丽,郭亚清.高通量测序技术在唐氏综合征产前筛查中的应用及研究进展[J].中国优生与遗传杂志,2017,16(3):7-9.
[19]陈剑虹,梁艳,李辉,等.惠州地区22671例孕妇孕早中期唐氏综合征产前筛查结果分析[J].中国妇幼健康研究,2017,28(6):713-716.
[20]张洁,王斌,钱序,等.我国唐氏综合征的疾病经济负担[J].中国卫生经济,2005,24(7):51-53.