Abstract
The objective of this study was to investigate whether skewed X chromosome inactivation (XCI) is associated with IVF. A retrospective cohort study was performed comprising 30 female infants conceived by IVF and 44 naturally conceived control infants matched for gestational age and sex. Cord blood DNA samples were obtained and XCI patterns were analysed using a methylation-sensitive assay. Eight IVF samples and 13 control samples were excluded from the study because they were either homozygous or alleles were too similar for the assay to determine skewing. Mildly skewed XCI (80-90% inactivation of one allele) was present in two of 22 (9.1%) IVF samples and two of 31 (6.5%) control samples. Extremely skewed XCI (>90% inactivation of one allele) was found in two of 22 (9.1%) IVF samples and none of 31 control samples. Neither difference was statistically significant. However, the mean degree of skewed XCI in the IVF group was 72.0% and in the control group was 62.4% (P=0.002). Larger studies are needed to clarify the relationship between IVF and skewed XCI.