Overview of genetic causes of recurrent miscarriage and the diagnostic approach

Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerousgenetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities arefrequently detected, while other genetic defects cannot be diagnosed through routine research, such as crypticchromosomal 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 incouples with RM and/or in products of conception. Here we aim to summarize the known genetic causes of RM, witha focus on the new diagnostic techniques. Knowledge of the genetic profile of miscarriages is important for prognosisand potential counseling planning, as well as the prenatal diagnostic strategy in subsequent pregnancies.