自然和医疗辅助生育中的遗传风险。

L Koulischer, A Verloes, S Lesenfants, M Jamar, C Herens
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引用次数: 0

摘要

目前的体外受精技术(IVF),包括胞浆内单精子注射(ICSI)、微附睾精子抽吸(MESA)或睾丸精子提取(TESE),明显地阻止了卵子或精子的自发选择。根据广泛接受的配子选择概念,与自然受精相比,体外受精后怀孕可能会出现更高的遗传异常风险。然而,除了性染色体非整倍体外,体外受精没有发现胎儿或新生儿畸形增加。来自文献的数据支持这样一种观点,即子宫确实是选择机制发生的器官(当它们发生时),正如卡尔在1971年提出的那样。这种选择主要涉及常染色体不平衡;不平衡的概念会流产。显然,性染色体非整倍体不太容易自然流产,但据一些系列研究报道,它们的高发生率似乎与体外受精程序无关。
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Genetic risk in natural and medically assisted procreation.

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any spontaneous choice of ova or spermatozoa. According to the widely admitted concept of gamete selection, pregnancies following IVF, when compared to natural fertilization, could therefore present a higher risk of genetic anomalies. However, no increased fetal or newborn abnormalities are noticed with IVF, except perhaps for sex chromosome aneuploidies. Data from the literature support the view that the uterus is, indeed, the organ where selection mechanisms occur (when they do so), as suggested by Carr in 1971. This selection concerns mainly autosome imbalances; unbalanced conceptuses are aborted. Sex chromosome aneuploidies, apparently, are less prone to natural abortion, but their higher rate of occurrence, as reported in a few series of studies, does not seem to be associated with the IVF procedures.

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