Plachot M
INSERM (U 173), Hopital Necker-Enfants Malades, Paris, France.
Ann Acad Med Singap. 1992 Jul;21(4):538-44.
Abnormal embryo development represents the major cause of implantation failures and accounts for the low rate of human infertility in vivo or in vitro. Chromosome abnormalities are widely involved in this process. Indeed, 28.4% of oocytes carry a chromosome aberration, i.e. 25.6% aneuploidy and 2.8% structural anomalies. Fertilisation abnormalities (possibly increased by in vitro procedures) were recorded: 7 to 28% of oocytes from fertilisation failure showed a sperm premature chromosome condensation probably resulting from ooplasmic immaturity. Moreover, 1.6% and 3.8% of inseminated oocytes had either a single or 3 pronuclei demonstrating parthenogenesis or triploidy, respectively. In vitro developmental capacities of embryos depends on the degree of ploidy. Parthenogenetic embryos display a fairly normal development until implantation. Triploid zygotes show an original way of division: half of them divide first into 3 cells and then into 6 cells (via a tripolar spindle) whereas diploid zygotes divide into 2 and then 4 cells. As a consequence of either meiotic or mitotic non disjunctions or fertilisation anomalies, 25 to 71% preimplantation embryos carry a chromosome disorder. As an outgrowth of in vitro fertilisation and embryo transfer, detection of genetic and metabolic defects prior to implantation might be possible in the future. So far, 6 girls have been born in couples at risk of transmitting X-linked disease. This technic will increase the efficiency of IVF and avoid the trauma of repeated abortions.
胚胎发育异常是植入失败的主要原因,也是体内或体外人类不育率低的原因。染色体异常广泛参与这一过程。事实上,28.4%的卵母细胞存在染色体畸变,即25.6%为非整倍体,2.8%为结构异常。记录到受精异常(可能因体外操作而增加):7%至28%受精失败的卵母细胞显示精子过早染色体凝聚,这可能是由于卵质不成熟所致。此外,1.6%和3.8%的受精卵母细胞分别有一个或三个原核,表明存在孤雌生殖或三倍体。胚胎的体外发育能力取决于倍性程度。孤雌生殖胚胎在植入前表现出相当正常的发育。三倍体合子显示出一种独特的分裂方式:其中一半先分裂成3个细胞,然后再分裂成6个细胞(通过三极纺锤体),而二倍体合子则分裂成2个细胞,然后再分裂成4个细胞。由于减数分裂或有丝分裂不分离或受精异常,25%至71%的植入前胚胎存在染色体疾病。作为体外受精和胚胎移植的延伸,未来可能在植入前检测到遗传和代谢缺陷。到目前为止,已有6名女孩在有X连锁疾病遗传风险的夫妇中出生。这项技术将提高体外受精的效率,避免反复流产的创伤。