Overview of genetic causes of recurrent miscarriage and the diagnostic approach

Abstract

Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerous genetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities are frequently detected, while other genetic defects cannot be diagnosed through routine research, such as cryptic chromosomal anomalies, single nucleotide polymorphism, single-gene defect, and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception. Here we aim to summarize the known genetic causes of RM, with a focus on the new diagnostic techniques. Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning, as well as the prenatal diagnostic strategy in subsequent pregnancies.

Genetic Factors of Idiopathic Recurrent Miscarriage in Kazakh Population

“…HLA DQA1, DQB1, and DRB1 genes are within the histocompatibility complex, which encodes a large number of immunological proteins, including classic human leukocyte antigen (HLA). In recent years, the role of HLA has been widely studied in the genesis of recurrent miscarriage, which is represented by more than 150 antigens ( 14 – 18 ). Trophoblast antigenic composition is mainly represented by histocompatibility antigens class II (HLA DRB1, DQA1, DQB1), which allows them to be used as immunological markers of RM development ( 19 ).…”

Viruses and genetics in pregnancy and birth

“…Proper chromosome separation requires one or more crossovers within the DNA between homologous maternal and paternal chromosomes in combination with the coupling of the arms of the chromatid sisters. However, 25% remain in this state and this is called the maternal age effect (47). Embryonic aneuploidy occurs when chromosome aberrations are present in gametes or early embryos (48,49).…”