Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, California, USA.
Stanford Maternal & Child Health Research Institute, Stanford University School of Medicine, Stanford, California, USA.
Birth Defects Res. 2023 Jan 15;115(2):160-170. doi: 10.1002/bdr2.2082. Epub 2022 Sep 15.
Despite the fact that the father contributes half the genome to a child, associations between paternal factors and birth defects are poorly understood.
To investigate the association between preconception paternal health and birth defects in the offspring.
We conducted analysis of a national cohort study utilizing the IBM Marketscan Research Database, which includes data on reimbursed private healthcare claims in the United States from 2007 to 2016. The potential association between paternal comorbidities, as measured by the components of metabolic syndrome (MetS), and any birth defect in the offspring was analyzed.
Of the 712,774 live births identified, 21.2% of children were born to fathers with at least one component of the metabolic syndrome (MetS ≥1) prior to conception. Compared to infants born to fathers with no components of the metabolic syndrome, a modestly higher percentage of infants with cardiac birth defects were born to fathers with more components of MetS (MetS = 1, OR [95% CI]: 1.07 [1.01-1.13]; MetS ≥2, 1.17 [1.08-1.26], in comparison to MetS = 0) after adjusting for maternal and paternal factors. Similarly, a higher percentage of infants with respiratory defects were born to fathers with two or more components of metabolic syndrome (MetS ≥2, OR [95% CI]: 1.45 [1.22-1.71]).
In this private insurance claims-based study, we found that fathers with metabolic syndrome-related diseases before conception were at increased risk for having a child affected by birth defects, especially cardiac and respiratory defects, and this association was not influenced by paternal age or assessed maternal factors.
尽管父亲为孩子贡献了一半的基因组，但父系因素与出生缺陷之间的关联仍知之甚少。
研究准父亲健康状况与后代出生缺陷之间的关系。
我们对一项全国性队列研究进行了分析，该研究利用了 IBM Marketscan 研究数据库，其中包含了 2007 年至 2016 年美国私人医疗保险报销数据。分析了父亲在受孕前的合并症（通过代谢综合征的组成部分来衡量）与后代任何出生缺陷之间的潜在关联。
在所确定的 712774 例活产儿中，有 21.2%的儿童的父亲在受孕前至少有一种代谢综合征成分（MetS≥1）。与没有代谢综合征成分的父亲所生婴儿相比，有更多代谢综合征成分的父亲所生婴儿中患有心脏出生缺陷的比例略高（MetS=1，比值比[95%置信区间]：1.07[1.01-1.13]；MetS≥2，1.17[1.08-1.26]，与 MetS=0 相比），这一结果在调整了母亲和父亲的因素后仍然成立。同样，患有呼吸缺陷的婴儿中，有两个或更多代谢综合征成分的父亲比例更高（MetS≥2，比值比[95%置信区间]：1.45[1.22-1.71]）。
在这项基于私人保险理赔的研究中，我们发现，在受孕前患有与代谢综合征相关疾病的父亲，其后代患有出生缺陷的风险增加，尤其是心脏和呼吸缺陷，并且这种关联不受父亲年龄或评估的母亲因素的影响。
