Time to reduce the rate of idiopathic recurrent pregnancy losses
Keywords:recurrent pregnancy loss, aneuploidy, balanced structural chromosome abnormalities, karyotyping, FISH, chromosomal microarray analysis, antiphospholipid syndrome, chronic endometritis
Recurrent pregnancy loss (RPL) is a polyetiological pathology, with the majority of causes and risk factors still not fully understood. The paper provides an overview of the current clinical guidelines on RPL, which shows the contradictions of recommendations for certain positions of examination and treatment. Taking into account the differences in the recommendations for genetic testing a detailed review of primary sources on the contribution of chromosomal pathology to RPL was done that confirms the value of cytogenetic testing of the conception product and need for attention to study of other than mother’s age factors that increase the risk of recurrent quantitative chromosomal abnormalities (aneuploidies, polyploidies). Balanced structural chromosomal abnormalities are the cause 5% of RPL. Carriers of balanced structural abnormalities do not phenotypically differ from people with a normal karyotype, but have a high risk of infertility, recurrent miscarriage, stillbirth, and birth of a child with chromosomal abnormalities. Examination of spouses with RPL for balanced structural chromosome abnormalities is the first and mandatory stage of examination, especially if cytogenetic examination of the conception products was not performed or was not informative.
This article also includes a review of studies in 2019–2020 years on improving diagnostic algorithms for the RPL causes to reduce the idiopathic cases. Scientific researches prove that a complete examination to identify all possible causes of RPL regardless of the result of the conception product karyotype determining can reduce the frequency of idiopathic RPL to 10–15%.
Thus, the exhaustive examination of all couples with RPL (diagnosis of genetic, anatomical, autoimmune, hormonal and microbiological causes, as well as a thorough assessment of risk factors) can significantly reduce the proportion of idiopathic forms of RPL. This reduces the stress of uncertainty and unreasonable empirical treatment in patients and provides a possibility to develop an individual plan for reproduction, using assisted reproductive technologies if necessary.
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