赣州市唇腭裂孕妇血浆代谢组学的初步分析(1)
【摘要】 目的：探讨唇腭裂孕妇血浆代谢组学特点，为临床早期检测唇腭裂胎儿提供诊断依据。方法：选取2014年2月-2015年4月本院产前超声筛查诊断胎儿为唇腭裂的孕妇21例作为病例组，随机选取同期本院产前筛查诊断胎儿为正常的孕妇21例作为对照组，采用基于核磁共振(NMR)的代谢组学技术分别检测并比较两组孕妇血浆代谢组学特点。结果：病例组血浆代谢产物与对照组有显著差异，病例组患者血浆中苯丙氨酸、缬氨酸和酪氨酸含量高于对照组，而丙氨酸、胆碱、磷酰胆碱代谢产物较对照组含量降低。结论：基于NMR代谢组学技术可较好反映唇腭裂胎儿孕妇血浆代谢变化，能获得相应特征代谢物，有重要临床应用前景。
【关键词】 唇腭裂； 孕妇； 血浆； 代谢组学
【Abstract】 Objective：To investigate the metabonomics features of pregnant women with cleft lip and palate fetus in order to provide diagnostic evidences for the early detection of fetus with cleft lip and palate.Method：21 pregnant women who were diagnosed with cleft lip and palate fetus through prenatal ultrasound screening in our hospital from February 2014 to April 2015 were selected as the case group，21 normal pregnant women who received the prenatal ultrasound screening in our hospital were randomly selected as the control group at the same time.The metabonomics features of the two groups were detected through metabonomics technology based on the nuclear magnetic resonance(NMR).The metabonomics features of the two groups were compared.Result：The plasma metabolites of the two groups were significantly different.The contents of phenylalanine，valine and tyrosine in the case group were higher than those in the control group.The contents of alanine，choline and phosphorylcholine in the case group were lower than those in the control group.Conclusion：NMR-based metabonomics can well reflect the metabolic changes in pregnant women with cleft lip and palate fetus.It can obtain corresponding metabolites features and has important clinical application prospect.
, 百拇医药
【Key words】 Cleft lip and palate； Pregnant women； Plasma； Metabonomics
唇腭裂为常见先天性颜面部畸形疾病，在胚胎发育至6～12周时，外胚间质细胞不能正常增生、分化、凋零、退变，导致面(腭)突融合障碍而形成唇部和腭部裂隙，为颅面先天发育畸形之一，影响生活质量[1]。临床中三维超声在孕期对胎儿唇腭裂有早期诊断价值，但受羊水、胎儿体位及操作手法等影响，存在一定误诊、漏诊率。代谢组学通过检测机体生物标本，反映机体病理生理及基因改变，为近年来发展的新兴技术，在临床疾病诊断、病理学及中药疗效中有重要应用价值[2-3]。唇腭裂与多因素遗传有相关性，且与孕期吸烟、用药等因素有关[4-5]。本研究探究了基于NMR代谢组学技术在唇腭裂孕妇血浆代谢组学中的检查效果，现具体报道如下。
1 资料与方法
1.1 一般资料 选取2014年2月-2015年4月本院产前超声筛查诊断胎儿为唇腭裂的孕妇21例作为病例组，随机选取同期本院产前筛查诊断胎儿为正常的孕妇21例作为对照组。病例组年龄22～42岁，平均(29.8±4.2)岁；孕周17～29周，平均(22.4±3.4)周。对照组年龄21～41岁，平均(29.6±4.1)岁；孕周18～31周，平均(22.5±3.6)周。
, 百拇医药
两组年龄、孕周等一般资料比较差异无统计学意义(P>0.05)，具有可比性。
1.2 入组标准 (1)病例组孕妇产前经超声检查胎儿明确诊断为唇腭裂，排除合并妊娠疾病的孕妇和胎儿；(2)排除孕妇家属患有Robbin综合征者或Shprintzen综合征等综合征性唇腭裂的孕妇；(3)排除合并有先天性代谢缺陷疾病的孕妇；(4)排除有血液系统疾病或临床生化结果异常者；(5)排除合并有传染病如肝炎、获得性免疫缺陷综合征等的患者。
1.3 方法
1.3.1 血浆样本采集 所有研究对象空腹6 h以上后次日清晨抽取空腹静脉血送检验科检查。抽取全血4 mL置入一次性静脉采血器抗凝管中，以1500 r/min速度离心15 min，后取2 mL上清液置入去酶EP管内，采用涡旋混匀器快速混匀1 min，在4 ℃温度下以14 000 r/min速度离心15 min，取1.5 mL上清液置入EP管内，并立即存入-20 ℃低温冰箱中待用。, http://www.100md.com(凌永昌等)
【关键词】 唇腭裂； 孕妇； 血浆； 代谢组学
【Abstract】 Objective：To investigate the metabonomics features of pregnant women with cleft lip and palate fetus in order to provide diagnostic evidences for the early detection of fetus with cleft lip and palate.Method：21 pregnant women who were diagnosed with cleft lip and palate fetus through prenatal ultrasound screening in our hospital from February 2014 to April 2015 were selected as the case group，21 normal pregnant women who received the prenatal ultrasound screening in our hospital were randomly selected as the control group at the same time.The metabonomics features of the two groups were detected through metabonomics technology based on the nuclear magnetic resonance(NMR).The metabonomics features of the two groups were compared.Result：The plasma metabolites of the two groups were significantly different.The contents of phenylalanine，valine and tyrosine in the case group were higher than those in the control group.The contents of alanine，choline and phosphorylcholine in the case group were lower than those in the control group.Conclusion：NMR-based metabonomics can well reflect the metabolic changes in pregnant women with cleft lip and palate fetus.It can obtain corresponding metabolites features and has important clinical application prospect.
, 百拇医药
【Key words】 Cleft lip and palate； Pregnant women； Plasma； Metabonomics
唇腭裂为常见先天性颜面部畸形疾病，在胚胎发育至6～12周时，外胚间质细胞不能正常增生、分化、凋零、退变，导致面(腭)突融合障碍而形成唇部和腭部裂隙，为颅面先天发育畸形之一，影响生活质量[1]。临床中三维超声在孕期对胎儿唇腭裂有早期诊断价值，但受羊水、胎儿体位及操作手法等影响，存在一定误诊、漏诊率。代谢组学通过检测机体生物标本，反映机体病理生理及基因改变，为近年来发展的新兴技术，在临床疾病诊断、病理学及中药疗效中有重要应用价值[2-3]。唇腭裂与多因素遗传有相关性，且与孕期吸烟、用药等因素有关[4-5]。本研究探究了基于NMR代谢组学技术在唇腭裂孕妇血浆代谢组学中的检查效果，现具体报道如下。
1 资料与方法
1.1 一般资料 选取2014年2月-2015年4月本院产前超声筛查诊断胎儿为唇腭裂的孕妇21例作为病例组，随机选取同期本院产前筛查诊断胎儿为正常的孕妇21例作为对照组。病例组年龄22～42岁，平均(29.8±4.2)岁；孕周17～29周，平均(22.4±3.4)周。对照组年龄21～41岁，平均(29.6±4.1)岁；孕周18～31周，平均(22.5±3.6)周。
, 百拇医药
两组年龄、孕周等一般资料比较差异无统计学意义(P>0.05)，具有可比性。
1.2 入组标准 (1)病例组孕妇产前经超声检查胎儿明确诊断为唇腭裂，排除合并妊娠疾病的孕妇和胎儿；(2)排除孕妇家属患有Robbin综合征者或Shprintzen综合征等综合征性唇腭裂的孕妇；(3)排除合并有先天性代谢缺陷疾病的孕妇；(4)排除有血液系统疾病或临床生化结果异常者；(5)排除合并有传染病如肝炎、获得性免疫缺陷综合征等的患者。
1.3 方法
1.3.1 血浆样本采集 所有研究对象空腹6 h以上后次日清晨抽取空腹静脉血送检验科检查。抽取全血4 mL置入一次性静脉采血器抗凝管中，以1500 r/min速度离心15 min，后取2 mL上清液置入去酶EP管内，采用涡旋混匀器快速混匀1 min，在4 ℃温度下以14 000 r/min速度离心15 min，取1.5 mL上清液置入EP管内，并立即存入-20 ℃低温冰箱中待用。, http://www.100md.com(凌永昌等)