Advances of Genetic Testing Technology in Etiology Diagnosis of Recurrent Spontaneous Abortion

Abstract

Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic testing technologies, there has been an increasing interest in using these tools to diagnose the etiology of RSA. This review discusses the different types of genetic testing methods, such as karyotyping, chromosomal microarray analysis, nextgeneration sequencing, and their applications in the diagnosis of the etiology RSA. The use of genetic testing in the diagnosis of RSA has the potential to improve the accuracy of diagnosis and the understanding of the underlying mechanisms of the disorder, which could lead to better management and treatment of affected individuals.

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss

“…In terms of prenatal diagnosis, if karyotype testing and CMA cannot determine the underlying cause of fetal malformations and structural abnormalities, WES can provide relevant information to aid in current pregnancy management. Currently, WES on the products of miscarriage is helpful to identify lethal genetic variants in key genes, and it expands our knowledge of prenatal phenotypes of many Mendelian disorders [44]. However, multiple studies have been conducted over the years to demonstrate the utility of NGS methods for this purpose.…”