连云港地区28259例妊娠中期孕妇唐氏综合征血清学筛查结果分析
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摘要
目的探讨利用血清标志物对连云港地区妊娠中期孕妇进行产前血清学筛查在检出唐氏综合症等先天缺陷儿中的应用价值。方法应用时间分辨免疫荧光技术对2013年1—12月来自连云港市妇幼保健院的28 259例孕15~20~(+6)周的孕妇进行血清甲胎蛋白(alpha fetoprotein,AFP)和游离人绒毛膜促性腺激素β亚基(free-β-human chorionic gonadotropin,Free-β-h CG)浓度的检测,结合孕周、体重和年龄等因素,通过风险评估软件进行风险评估,并对高风险孕妇进行羊水细胞染色体核型分析或超声确诊。结果筛查出高风险孕妇总计1 913例,其中1 550例筛查高风险孕妇接受羊水细胞染色体核型分析。检测结果发现21-三体综合征12例,18-三体综合征1例,其他染色体异常7例。另外,114例NTD高风险孕妇经超声诊断发现6例畸形儿。结论进行孕中期产前筛查并结合产前诊断对预防出生缺陷儿的出生、提高人口素质具有重大意义。
Objective To study the application effect of serum markers in the prenatal serum screening results of Down's syndrome of pregnant women during the second trimester of pregnancy in Lianyungang district. Methods The alpha fetoprotein and free-β-human chorionic gonadotropin of the 28 259 cases of pregnant women whose pregnant week was between15 and 20~(+6)from January 2013 to December 2013 in our hospital were tested by the time-resolved fluorescence immunoassay, and the risks were evaluated by the risk evaluation software combined with the pregnant week, weight and age, and the high-risk pregnant women were given the chromosomes of ammiotic cells analysis or ultrasound diagnosis. Results 1 913 cases of high-risk pregnant women were screened including 1 550 cases receiving the chromosomes of ammiotic cells analysis, and the test results showed that 12 cases with 21-trisomy syndrome, 1 case with 18-trisomy syndrome and 7 cases with other chromosome abnormalities were discovered, besides, the ultrasound diagnosis showed that in the 114 cases with NTD high-risk, there were 6 cases of deformed children. Conclusion The prenatal screening during the second trimester of pregnancy and prenatal diagnosis is of important significance to preventing the occurrence of deformed children and improving the population quality.
Objective To study the application effect of serum markers in the prenatal serum screening results of Down's syndrome of pregnant women during the second trimester of pregnancy in Lianyungang district. Methods The alpha fetoprotein and free-β-human chorionic gonadotropin of the 28 259 cases of pregnant women whose pregnant week was between15 and 20~(+6)from January 2013 to December 2013 in our hospital were tested by the time-resolved fluorescence immunoassay, and the risks were evaluated by the risk evaluation software combined with the pregnant week, weight and age, and the high-risk pregnant women were given the chromosomes of ammiotic cells analysis or ultrasound diagnosis. Results 1 913 cases of high-risk pregnant women were screened including 1 550 cases receiving the chromosomes of ammiotic cells analysis, and the test results showed that 12 cases with 21-trisomy syndrome, 1 case with 18-trisomy syndrome and 7 cases with other chromosome abnormalities were discovered, besides, the ultrasound diagnosis showed that in the 114 cases with NTD high-risk, there were 6 cases of deformed children. Conclusion The prenatal screening during the second trimester of pregnancy and prenatal diagnosis is of important significance to preventing the occurrence of deformed children and improving the population quality.
引文
[1]刘启兰,胡娅莉,许争峰,等.江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究[J].中华医学遗传学杂志,2010,27(3):340-342.
[2]王立芳,李东明,韦媛,等.广西地区2009-2012年31944例孕中期孕妇产前筛查、诊断及随访情况分析[J].实用医学杂志2013,29(24):4064-4066.
[3]江苏省出生缺陷干预项目组.26803例中期妊娠妇女血清筛查胎儿染色体异常的结果分析[J].中华医学杂志,2007,87(35):2476-2480.
[4]赖晓敏.龙岩市12921例孕妇血清产前筛查结果分析[J].基层医学论坛,2013,17(10):1253-1254.
[5]孙辉,王淑媛,熊敏.湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨[J].标记免疫分析与临床,2012,19(5):273-275.
[6]Wright D,Bradbury I,Benn P,et al.Contingent screening for Down Syndrome is an efficient alternative to nondisclosure sequential screening[J].Prenat Diagn,2004,24(10):762-766.
[7]黎冬梅,赵飞飞,张云霞,等.中孕期母体血清游离β-HCG水平过高与不良妊娠结局相关性的研究[J].现代妇产科进展,2011,20(3):186-189.
[8]陈益明,王芳,顾琳媛,等.44566例孕妇二联法血清筛查唐氏综合征胎儿分析[J].中国妇幼健康研究,2013,14(5):750-752.
[9]刘启兰,胡娅莉,许争峰,等.江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究[J].中华医学遗传学杂志,2011,14(2):74-77.
[2]王立芳,李东明,韦媛,等.广西地区2009-2012年31944例孕中期孕妇产前筛查、诊断及随访情况分析[J].实用医学杂志2013,29(24):4064-4066.
[3]江苏省出生缺陷干预项目组.26803例中期妊娠妇女血清筛查胎儿染色体异常的结果分析[J].中华医学杂志,2007,87(35):2476-2480.
[4]赖晓敏.龙岩市12921例孕妇血清产前筛查结果分析[J].基层医学论坛,2013,17(10):1253-1254.
[5]孙辉,王淑媛,熊敏.湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨[J].标记免疫分析与临床,2012,19(5):273-275.
[6]Wright D,Bradbury I,Benn P,et al.Contingent screening for Down Syndrome is an efficient alternative to nondisclosure sequential screening[J].Prenat Diagn,2004,24(10):762-766.
[7]黎冬梅,赵飞飞,张云霞,等.中孕期母体血清游离β-HCG水平过高与不良妊娠结局相关性的研究[J].现代妇产科进展,2011,20(3):186-189.
[8]陈益明,王芳,顾琳媛,等.44566例孕妇二联法血清筛查唐氏综合征胎儿分析[J].中国妇幼健康研究,2013,14(5):750-752.
[9]刘启兰,胡娅莉,许争峰,等.江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究[J].中华医学遗传学杂志,2011,14(2):74-77.