Abstract
BackgroundRecurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype.Case presentationWe report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes.ConclusionsIt is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.
Highlights
Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis
Chromosomal abnormalities were described according to the International System for Human Molecular Cytogenomic Nomenclature (ISCN; 2016)
Cytogenetic analyses have revealed a higher prevalence of chromosomal translocations in couples with recurrent miscarriage; an analysis of each translocation case is necessary to assess the risk of the woman for future miscarriage [9]
Summary
Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). There are two main types of chromosomal diseases, namely, those of chromosomal number and those of chromosomal structure These chromosomal abnormalities are important causes of infertility, spontaneous abortion, recurrent abortion, teratosis, stillbirth, oligospermia or no sperm, and other abnormal fertility problems in couples of childbearing. Women are about twice as likely as men to have a balanced translocation [6]
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