Chromosomal abnormalities in embryos account for about 50% of spontaneous abortions. Approximately 70% of human embryos die before and after implantation, and chromosomal aneuploidy is thought to be an important cause of this low implantation rate and early loss of human embryos. This chromosomal number aberration occurs mainly during gamete formation in one of the parents or during oogenesis of the fertilized egg in early gestation, resulting in the addition or subtraction of one chromosome, i.e., trisomy or haploidy. Abnormal numbers are the most important cause of early embryo abortion. This may be due to the fact that embryos with abnormal numbers have large genetic defects and high lethality. Chromosomal abnormalities are one of the major causes of pregnancy failure and birth of malformed affected children. According to domestic and international data, chromosomal abnormalities account for 50% of aborted embryos and 8‰ of stillbirths. Among the many types of chromosomal abnormalities, balanced chromosomal translocations are more common. Balanced translocation is a structural reorganization of chromosomes, which basically does not involve the loss of genetic material, so the carrier has a normal phenotype and no positive signs on clinical examination, and therefore often does not receive timely and correct treatment. The failure of pregnancy and the birth of malformed children encountered by this group of patients can only be correctly and reasonably explained by cytogenetic analysis. The frequency of chromosomal abnormalities in our general population is 0.5% to 1%, while the incidence of chromosomal abnormalities in patients with a history of adverse pregnancies is significantly higher than in the general population, with an incidence of 2% to 10% reported in the literature. In chromosomal translocation carriers, chromosomal deletions or duplications may occur during the process of meiosis, and the offspring may be fully or partially trisomic or monosomic when combined with normal gametes, and most of them do not survive, resulting in miscarriage, malformation, and stillbirth. In contrast, the phenotypes of balanced translocation carriers are mostly normal, but during the process of gamete formation, one of them is completely normal and the offspring are normal; one of them is a balanced translocation carrier, and theoretically, 18 different congeners can be formed. The resulting individuals are generally phenotypically normal, but also have malformations or miscarriages. The remaining 16 congenics, either partially missing or partially duplicated, exhibit abortions, stillbirths and malformations, respectively, and are not viable. Among the chromosomal abnormalities, chromosomal polymorphisms account for a large proportion of about 70%, producing certain clinical manifestations, and abnormal polymorphisms are stably inherited in family lines. However, many people believe that these variants can lead to abnormal clinical manifestations under the influence of certain internal and external environmental factors. Some chromosomal disorders may not lead to miscarriage, and embryos survive, but there is an increase in the number of children born with birth defects. Birth defects can not only kill fetuses, infants and children, but often leave surviving patients disabled and with a significantly reduced quality of life, placing a heavy economic and emotional burden on individuals, families and society. For patients with recurrent miscarriages, karyotype analysis of both spouses should be routinely performed to detect carriers and perform prenatal diagnosis, which is of great importance to control the epidemic of the disease.