Background:Recurrent pregnancy loss (RPL) is an obstetric complication that affects couples in their reproductive age. Chromosomal abnormalities, mainly balanced rearrangements, could commonly be present in couples with RPL.Aim:The purpose of this study is to evaluate the contribution of chromosomal abnormalities and balanced reciprocal translocations, in particular occurring in either of the partners, resulting in RPL.Materials and Methods:A retrospective cytogenetic study was carried out on 152 individuals (76 couples) having a history of RPL. The cases were analyzed using G-banding and fluorescence in situ hybridization, wherever necessary.Results:Chromosomal abnormalities were observed in 3.2% of the total RPL cases, of which balanced translocations were observed in 4 (80%) individuals and marker chromosome was detected in 1 (20%) individual. All balanced translocations comprised reciprocal translocations, and no cases of Robertsonian translocations were detected in our study. Among reciprocal translocation carriers, three were male and one was female. Polymorphic variants were noted in 8 (5.3%) individuals.Conclusions:Chromosomal analysis is an important etiological investigation in couples with RPL. Balanced translocations are the most commonly detected chromosomal abnormalities in such couples. Thus, these couples are the best candidates for offering prenatal genetic diagnosis, thereby ensuring a better reproductive outcome.

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Examination of her secondary sexual characteristics revealed no breast development, absent axillary hairs, and sparse pubic hairs. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic uterus with absent fallopian tubes and ovaries. A diagnosis of Swyer syndrome was made. Laparoscopy showed infantile uterus, normal fallopian tubes, and streak gonads. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyer syndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis.

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Sex chromosome aneuploidy is defined as a numeric abnormality of an X or Y chromosome and includes 45,X (Turner syndrome); 47,XXY (Klinefelter's syndrome); 47,XXX; and 47,XYY karyotypes. Individuals with 47,XXX and 47,XXY are generally fertile, but there is a risk of having a cytogenetically abnormal child in them. Turner and Klinefelter's syndromes are frequently associated with infertility, but few cases have been reported that they were able to give birth to a normal child as well as some children were born with similar or some other chromosomal abnormalities. Triple X syndrome occurs in 0.1% of live-born female newborns. Most of these newborns have a normal phenotype and only a few cases with 47,XXX karyotype have congenital malformations. These female patients may be mostly fertile, but there appears to be an increased risk of a cytogenetically abnormal child; the extent of this risk cannot yet be determined. Therefore, prenatal diagnosis and genetic analysis are therefore recommended. We report a rare case of triple X woman with a history of a Down syndrome child, for which she was advised a prenatal diagnosis in her subsequent pregnancy, and a review of other pertinent articles to establish the role of a prenatal diagnosis in parents with a sex chromosomal abnormality.