Cytogenetic analysis on patients with a history of spontaneous abortion / 浙江大学学报·医学版

ABSTRACT

OBJECTIVE: To investigate the incidence and identify the type of chromosome abnormalities in couples with spontaneous abortion. Also to observe the effect of balanced translocation on pregnancy outcome. METHODS: A total of 9258 cases of spontaneous abortion were studied. Lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- or N-banding in some cases in additions. RESULTS: The overall incidence of chromosomal abnormalities was 2.72% (women 3.32%, men 2.12%). In womem with 4 or more spontaneous abortions, the incidence of chromosomal abnormalities was significantly higher (4.9%, P<0.01). Among the 252 cases the following chromosome abnormalities were noted translocations (81.0%), numerical abnormalities (13.1%), inversions (4.0%), deletion (0.4%) and marker chromosomes (0.8%). There were 473 pregnancies in 130 carriers of balanced translocations; their spontaneous abortions rate was 90.1%. CONCLUSION: Womem with a history of spontaneous abortion have a higher rate of chromosomal abnormalities than their male partner. Chromosomal abnormalities are significantly more common in women with 4 or more spontaneous abortions. Balanced translocations are the major abnormal karyotpes associated with spontaneous abortions. In such patients, prenatal diagnostic testing is advised for all subsequent pregnancies.