BACKGROUND Although recent in vitro experimental results have raised the question of whether maternal exposure to per- and polyfluoroalkyl substances (PFAS) may be a potential environmental risk factor for chromosomal abnormalities, epidemiological studies investigating these associations are lacking. OBJECTIVES This study examined whether prenatal PFAS exposure is associated with a higher prevalence of chromosomal abnormalities among offspring. METHODS We used data from the Japan Environment and Children's Study, a nationwide birth cohort study, and employed logistic regression models to examine the associations between maternal plasma PFAS concentrations in the first trimester and the diagnosis of chromosomal abnormalities in all births (artificial abortions, miscarriages, stillbirths, and live births) up to 2 years of age. In addition, we examined associations with mixtures of PFAS using multipollutant models. RESULTS The final sample consisted of 24,724 births with singleton pregnancies, of which 44 confirmed cases of chromosomal abnormalities were identified (prevalence: 17.8/10,000 births). When examined individually, exposure to perfluorononanoic acid (PFNA) and perfluorooctane sulfonic acid (PFOS) showed positive associations with any chromosomal abnormalities with age-adjusted odds ratios of 1.81 (95% CI: 1.26, 2.61) and 2.08 (95% CI: 1.41, 3.07) per doubling in concentration, respectively. These associations remained significant after Bonferroni correction, although they did not reach the adjusted significance threshold in certain sensitivity analyses. Furthermore, the doubling in all PFAS included as a mixture was associated with chromosomal abnormalities, indicating an age-adjusted odds ratio of 2.25 (95% CI: 1.34, 3.80), with PFOS as the predominant contributor, followed by PFNA, perfluoroundecanoic acid (PFUnA), and perfluorooctanoic acid (PFOA). DISCUSSION The study findings suggested a potential association between maternal exposure to PFAS, particularly PFOS, and chromosomal abnormalities in offspring. However, the results should be interpreted cautiously, because selection bias arising from the recruitment of women in early pregnancy may explain the associations. https://doi.org/10.1289/EHP13617.

中文翻译：

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母亲接触全氟烷基和多氟烷基物质与后代染色体异常：日本环境和儿童研究。


背景虽然最近的体外实验结果提出了母亲接触全氟烷基物质和多氟烷基物质（PFAS）是否可能是染色体异常的潜在环境风险因素的问题，但缺乏调查这些关联的流行病学研究。目的 本研究探讨了产前 PFAS 暴露是否与后代染色体异常患病率较高有关。方法 我们使用来自日本环境与儿童研究（一项全国性出生队列研究）的数据，并采用逻辑回归模型来检查孕早期母体血浆 PFAS 浓度与所有新生儿染色体异常诊断（人工流产、流产）之间的关系。 、死产和活产）直至 2 岁。此外，我们还使用多污染物模型研究了 PFAS 混合物的关联性。结果 最终样本包括 24,724 例单胎妊娠新生儿，其中 44 例确诊染色体异常病例（患病率：17.8/10,000 例新生儿）。单独检查时，全氟壬酸 (PFNA) 和全氟辛烷磺酸 (PFOS) 的暴露与任何染色体异常呈正相关，年龄调整后的优势比分别为 1.81 (95% CI: 1.26, 2.61) 和 2.08 (95% CI: 1.41) ，3.07）每浓度加倍，分别。这些关联在 Bonferroni 校正后仍然显着，尽管它们在某些敏感性分析中没有达到调整后的显着性阈值。此外，作为混合物包含的所有 PFAS 的倍增与染色体异常相关，表明年龄调整优势比为 2.25 (95% CI: 1.34, 3.80），其中 PFOS 为主要贡献者，其次是 PFNA、全氟十一烷酸 (PFUnA) 和全氟辛酸 (PFOA)。讨论 研究结果表明，母亲接触 PFAS（尤其是 PFOS）与后代染色体异常之间存在潜在关联。然而，应谨慎解释结果，因为招募妊娠早期女性所产生的选择偏差可能会解释这种关联。 https://doi.org/10.1289/EHP13617。