Recent Publications by CFE Educators

PURPOSE

Use of assisted reproductive technology (ART) could lead to abnormal pubertal development in children. We compared pubertal development in children conceived using ART to non-in vitro fertilization fertility treatment (NIFT) and unassisted (UA) conception.

METHODS

Children from the Developmental Epidemiological Study of Children through Reproductive Technology (DESCRT) were assessed for pubertal development according to the standardized protocol. Tanner staging (breast, testes, and pubic hair development) was compared between ART, NIFT, and UA-conceived children. Differences were analyzed using Wilcoxon rank-sum test, Pearson's chi-squared test, and Fisher's exact test. Multivariable logistic regression was used to assess association between method of conception and pubertal development.

RESULTS

The sample included 290 children (164 boys and 126 girls) at median age 6 years (range 4 to 18 years); 229 were conceived using ART compared to a combined reference group of 29 conceived via NIFT and 32 via UA. Statistical analyses adjusted for children's age, height, and weight showed statistically non-significant trends wherein boys conceived via ART tended to be in later Tanner stages for pubarche (OR = 2.33, 95% CI 0.44-12.21) and gonadarche (OR = 4.27, 95% CI 0.44-41.99), and girls tended to be in later stages for pubarche (OR = 4.29, 95% CI 0.40-45.62) and thelarche (OR = 2.23, 95% CI 0.35-14.03) compared to the reference group.

CONCLUSION

As ART becomes more widespread, developmental concerns become increasingly prominent. While results were statistically non-significant, we observed a trend toward differences in pubertal development between ART-conceived children and those conceived without assistance or NIFT.

With advances in cancer screening and treatment, there is a growing population of cancer survivors who may develop subsequent primary cancers. While hereditary cancer syndromes account for only a portion of multiple cancer cases, we sought to explore the role of common genetic variation in susceptibility to multiple primary tumors. We conducted a cross-ancestry genome-wide association study (GWAS) and transcriptome-wide association study (TWAS) of 10,983 individuals with multiple primary cancers, 84,475 individuals with single cancer, and 420,944 cancer-free controls from two large-scale studies. Our GWAS identified six lead variants across five genomic regions that were significantly associated (p  5 × 10) with the risk of developing multiple primary tumors (overall and invasive) relative to cancer-free controls (at 3q26, 8q24, 10q24, 11q13.3, and 17p13). We also found one variant significantly associated with multiple cancers when compared with single cancer cases (at 22q13.1). Multi-tissue TWAS detected associations with genes involved in telomere maintenance in two of these regions (ACTRT3 in 3q26 and SLK and STN1 in 10q24) and the development of multiple cancers. Additionally, the TWAS also identified several novel genes associated with multiple cancers, including two immune-related genes, IRF4 and TNFRSF6B. Telomere maintenance and immune dysregulation emerge as central, common pathways influencing susceptibility to multiple cancers. These findings underscore the importance of exploring shared mechanisms in carcinogenesis, offering insights for targeted prevention and intervention strategies.