Reproductive Medicine Associates of New Jersey, 140 Allen Road, Basking Ridge, NJ 07920, USA.
Obstet Gynecol Clin North Am. 2018 Mar;45(1):143-154. doi: 10.1016/j.ogc.2017.10.007.
Recurrent pregnancy loss is often idiopathic, but numerical and structural chromosomal abnormalities constitute an important cause. Numerical chromosomal abnormalities in the conceptus are primarily due to meiotic nondisjunction; the rate and complexity of embryonic aneuploidy are driven by female age. Structural chromosomal abnormalities (balanced translocations or inversions) can lead to unbalanced gametes depending on specific recombination and segregation patterns during meiosis. The attendant reproductive risk depends on the type of rearrangement and its parental origin. Current methods for analysis of products of conception include cytogenetics, array comparative genomic hybridization, and single nucleotide polymorphism microarray; each platform has advantages and disadvantages.
复发性流产通常是特发性的,但数量和结构染色体异常构成了一个重要的原因。胚胎的数量染色体异常主要是由于减数分裂不分离引起的;胚胎非整倍体的率和复杂性由女性年龄驱动。结构染色体异常(平衡易位或倒位)可导致配子不平衡,这取决于减数分裂过程中的特定重组和分离模式。随之而来的生殖风险取决于重排的类型及其亲本来源。目前分析妊娠产物的方法包括细胞遗传学、阵列比较基因组杂交和单核苷酸多态性微阵列;每个平台都有其优点和缺点。