FANCONI ANEMIA CARRIERS ARE AT INCREASED RISK FOR SECOND TRIMESTER PREGNANCY LOSS

Abstract

Fanconi Anemia (FA) is a genetic disorder caused by mutations in genes that function in the DNA interstrand crosslink repair pathway. Deficiency of FANC genes results in an impaired ability to repair DNA damage and an increased risk of bone marrow failure and cancer. Embryogenesis is associated with increased rates of DNA damage and repair due to high rates of cell replication. The purpose of this study was to evaluate the risk of overall and late pregnancy loss in carriers of Fanconi anemia. In this cohort study, we studied the birth history of 96 mothers of children registered in the International Fanconi anemia Registry (IFAR) between 1985 and 2012. Data were assessed retrospectively from medical records obtained from IFAR. Odds ratio and 95% confidence intervals of miscarriage risk as compared to non-FA-carriers were calculated by Fisher’s exact test. There was no significant difference in the overall rate of miscarriage in the FA-carriers compared to the non-FA-carriers nor was there a significant difference in the risk of a mother having at least one miscarriage between the two groups. FA-carriers had a statistically significant increased risk of late miscarriage (≥18 weeks of gestation) (p=0.0122). Compared to non-FAcarriers, FA-carriers are at increased risk of second trimester pregnancy loss, possibly due to genomic instability of an FA-affected fetus.