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首页> 外文学位 >Depistage prenatal de la trisomie 21 et autres aneuploidies au premier trimestre.
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Depistage prenatal de la trisomie 21 et autres aneuploidies au premier trimestre.

机译：孕早期唐氏综合症和其他非整倍体的产前筛查。

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摘要

In this thesis by articles, we explore different facets of first trimester prenatal screening of aneuploidy. Introduction retraces the origin of prenatal screening and enunciates current biochemical and ultrasound markers associated with aneuploidy. In the first article, impact of maternal smoking on first-trimester prenatal screening results is assessed for Down syndrome and trisomy 18. Both maternal blood levels of PAPP-A and free beta-hCG are significantly decreased by maternal smoking while fetal nuchal translucency (NT) thickness is significantly increased. Without adjustment, this results in an increase of false positives, at least for trisomy 18. Based on these results, adjustment for smoking should be mandatory in first-trimester prenatal screening. In the second article, we identify NT threshold values above which biochemical screening provides no additional benefit. In pregnancies in which NT is above the proposed upper cut-offs, invasive prenatal screening should be offered without undue delay. In the third and last article, maternal plasma levels of follistatin-related gene protein (FLRG) are determined for the first time in first trimester of pregnancy. Its potential role as a new marker for Down syndrome is assessed. Although FLRG can be successfully detected in maternal plasma, its levels are not significantly altered by the presence of Down syndrome fetuses. In the general discussion, articles are mainly addressed under a Quebec standpoint. Additional and complementary original data are presented and different clinical research avenues are proposed.;Keywords : aneuploidy; chorionic gonadotropin, beta subunit, human; Down syndrome ; Edwards syndrome ; first trimester; follistatin-related proteins; nuchal translucency measurement ; Patau syndrome ; preeclampsia ; pregnancy ; pregnancy-associated plasma protein-A; smoking ; trisomy
机译：在本文的文章中，我们探索了非整倍性的孕早期产前筛查的不同方面。简介追溯了产前筛查的起源，并阐明了当前与非整倍性相关的生化和超声标记物。在第一篇文章中，评估了唐氏综合症和18三体综合征对孕产妇吸烟对早孕期产前筛查结果的影响。孕产妇吸烟显着降低了孕妇血液中PAPP-A和游离β-hCG的水平，而胎儿环半透明（NT ）厚度明显增加。如果不进行调整，至少在三体检查18中，这会导致假阳性的增加。基于这些结果，在孕早期的产前筛查中必须强制吸烟。在第二篇文章中，我们确定了NT阈值，高于该阈值生化筛选没有任何其他好处。在NT高于建议的上限时，应进行有创的产前筛查，不要过分拖延。在第三篇也是最后一篇文章中，在怀孕的头三个月中首次确定了孕妇的卵泡抑素相关基因蛋白（FLRG）血浆水平。评估了其作为唐氏综合症的新标志物的潜在作用。尽管可以在母体血浆中成功检测到FLRG，但是唐氏综合症胎儿的存在并未显着改变其水平。在一般性讨论中，文章主要以魁北克的立场进行论述。提出了补充和补充的原始数据，并提出了不同的临床研究途径。绒毛膜促性腺激素，β亚基，人类；唐氏综合症 ;爱德华综合征;前三个月；卵泡抑素相关蛋白；颈部半透明测量; Patau综合征;子痫前期;怀孕;妊娠相关血浆蛋白A；抽烟 ;三体性

著录项

  • 作者

    Miron, Pierre.;

  • 作者单位

    Universite de Montreal (Canada).;

  • 授予单位 Universite de Montreal (Canada).;
  • 学科 Health Sciences Obstetrics and Gynecology.
  • 学位 Ph.D.
  • 年度 2011
  • 页码 247 p.
  • 总页数 247
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 肿瘤学;
  • 关键词

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