Reproductive outcome and fetal karyotype of couples with recurrent miscarriages

Purpose: The purpose of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and assess the long-term reproductive outcomes in couples with recurrent miscarriages (RM).Materials and Methods: The reproductive outcomes of 34 couples with abnormal karyotypes and RM were investigated.Ultrasound examinations were performed during pregnancy, fetal karyotypes were determined following miscarriages, and successful pregnancy outcomes were recorded.Results: Of the 34 couples, 20 individuals presented with chromosomal abnormalities, specifically in nine females and 11 males (45% vs 55%, χ 2 = 0.2833, p > 0.05).Fifteen couples (44.1%) possessed karyotype polymorphisms, of which the most common variant was a long Y chromosome in males.The reproductive outcomes of subsequent pregnancies consisted of 25 live births of phenotypically normal infants (73.5%), one infant with multiple malformations (2.9%), and eight RM (23.6%).With regards to karyotypes, 69.2% (9/13) of couples had inversions and 73.3% (11/15) had karyotype polymorphisms that resulted in live births of phenotypically normal babies.Fetal karyotyping was performed in a total of 29 cases.Normal karyotypes were present in 48.3% (14/29) of cases, whereas 41.4% (12/29) had abnormalities (either numerical or structural), and 10.3% (3/29) has a karyotype polymorphism.Conclusions: There is a positive correlation between chromosomal abnormalities and spontaneous miscarriages.A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage(s) during a subsequent pregnancy, particularly when one partner is a carrier of chromosome abnormalities (i.e., inversions of chromosome 9 and long Y chromosome in males).Prenatal diagnosis is necessary in carrier couples suffering from more than two miscarriages.