Abstract
Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.
Highlights
Recurrent miscarriage (RM), referred to as recurrent pregnancy loss (RPL) or habitual abortion (HA), is classically defined by Royal College of Obstetricians and Gynaecologists (RCOG) as the occurrence of three or more consecutive abortions prior to 20 weeks of gestation.[1]
The frequencies and types of chromosomal abnormalities in couples with RM and miscarriage material are shown in Tables 1 and 2, respectively
Another study showed that chromosome abnormalities were found in 5% of the couples with a history of two miscarriages, in 10.3% with three miscarriages and in 14.3% with four or more miscarriages.[18]
Summary
Recurrent miscarriage (RM), referred to as recurrent pregnancy loss (RPL) or habitual abortion (HA), is classically defined by Royal College of Obstetricians and Gynaecologists (RCOG) as the occurrence of three or more consecutive abortions prior to 20 weeks of gestation.[1] the American Society of Reproductive Medicine (ASRM) has recently redefined recurrent pregnancy loss as two or more abortions.[2,3]. The RM etiology may be multifactorial and about 40–60% of these patients are non-identifiable causes, in this case the condition is classified as idiopathic or unexplained RM.[4,5]. The main etiological factors related to RM are: 1) genetic abnormalities (parental chromosomal rearrangements and abnormal embryonic karyotypes); 2) endocrine abnormalities; 3) anatomical factors; 4) immune factors; 5) inherited thrombophilic disorders; 6) infective agents; 7) miscellaneous factors (lifestyle and environmental factors); and 8) new risk factors.[6,7,8]. Lifestyle modifications should be implemented to improve reproductive prognosis.[7]
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