2023年 · 第103卷第30期

To explore the relationship between cancer occurrence and birth defects from birth to adulthood, this study conducted a population-based nested case-control study based on national health medical registry data from Denmark, Finland, Norway and Sweden. 62,295 cancer patients (0-46 years old) born between 1967 and 2014 were used as case groups, and the frequency matching was 1:10 according to country and year of birth. The control group included 724,542 subjects. According to the logistic regression modelORValue 99%CIEstimation of major birth defects and associated cancersRRValue. In the case and control groups, 3.5% (2 160/62 295) and 2.2% (15 826/724 542) of subjects were associated with major birth defects, and the odds ratio of cancer in patients with major birth defects compared with those without birth defects (OR) was 1.74, 99% of whichCI1.63 to 1.84. For individuals with non-chromosomal abnormal birth defects that develop cancerousORwas 1.54 (99%CI：1.44~1.64）； Cancer in patients with chromosomal abnormalitiesORwas 5.53 (99%CI：4.67~6.54）。 Many structural birth defects are related to the organs and locations in which later cancer occurs, such as birth defects in the eye, nervous system and urinary system. Whether it is a non-chromosomal abnormal birth defect or a birth defect caused by chromosomal abnormalities, the ratio of cancer occurrence increases with the number of birth defects and decreases with the age of patients. Of all birth defects with non-chromosomal abnormalities, adults develop cancerORValues (99%CI(≥20 years old: 1.21, 1.09 to 1.33) were higher than adolescents (15 to 19 years old: 1.58, 1.31 to 1.90) and children (0 to 14 years old: 2.03, 1.85 to 2.23). Among patients with chromosomal abnormalities, the odds ratio of cancer in children was 11.3 (9.35 to 13.8), while in adults, the odds of cancer were 11.3 (9.35 to 13.8).ORValues (99%CI) to 1.50 (1.01~2.24). In adults, a variety of birth defects are associated with the occurrence of cancer, the types of birth defects and theirORValue andOR99% of the valueCIThey were: skeletal dysplasia (3.54, 1.54 to 8.15), neurological defects (1.76, 1.16 to 2.65), chromosomal abnormalities (1.50, 1.01 to 2.24), reproductive organ defects (1.43, 1.14 to 1.78) and congenital heart defects (1.28, 1.02 to 1.59). Patients with birth defects with chromosomal and non-chromosomal abnormalities have an increased risk of cancer until adulthood, and the molecular mechanisms involved need to be further studied.