Gardó S
Petz Aladár Megyei Kórház Györ, Szülészeti és Nögyógyászati Osztály és Klinikai Genetikai Központ.
Orv Hetil. 1993 Jul 4;134(27):1459-64.
Author reviews the recent researches related to the genetic causes of spontaneous abortions as well as the results of the cytogenetic examinations of gametes, early embryos and clinical miscarriages. In the background of more than half of first trimester spontaneous pregnancy losses severe chromosomal aberration of the fetus can be found. About 60% of abnormal karyotypes is formed by autosomal trisomies, the rest is divided among polyploidies, X-monosomy and different structural anomalies. The incidence of fetal trisomies correlates with maternal age, besides balanced translocations of parents and delayed fertilisation can also play a role in the etiology of fetal chromosomal abnormalities. Regarding that most of these abnormalities accidentally develop because of meiotic or mitotic error there is no great risk of recurrence. Women who have had one spontaneous abortion will soon get pregnant again and give birth to a healthy child. The abortion of fetuses with abnormal karyotype is the appearance of natural genetic selection.
作者回顾了与自然流产遗传原因相关的近期研究，以及配子、早期胚胎和临床流产的细胞遗传学检查结果。在孕早期自然妊娠丢失超过一半的情况下，可发现胎儿存在严重染色体畸变。约60%的异常核型由常染色体三体组成，其余则分布在多倍体、X单体和不同的结构异常中。胎儿三体的发生率与母亲年龄相关，此外，父母的平衡易位和受精延迟也可能在胎儿染色体异常的病因中起作用。鉴于这些异常大多是由于减数分裂或有丝分裂错误偶然发生的，复发风险不大。有过一次自然流产的女性很快会再次怀孕并生下健康的孩子。核型异常胎儿的流产是自然遗传选择的表现。
