Slone Epidemiology Center at Boston University, Boston, MA 02215, USA.
Am J Med Genet A. 2013 Jul;161A(7):1569-78. doi: 10.1002/ajmg.a.35955. Epub 2013 May 17.
Clubfoot is a common structural malformation, occurring in approximately 1/1,000 live births. Previous studies of sociodemographic and pregnancy-related risk factors have been inconsistent, with the exception of the strong male preponderance and association with primiparity. Hypotheses for clubfoot pathogenesis include fetal constraint, Mendelian-inheritance, and vascular disruption, but its etiology remains elusive. We conducted a population-based case-control study of clubfoot in North Carolina, Massachusetts, and New York from 2007 to 2011. Mothers of 677 clubfoot cases and 2,037 non-malformed controls were interviewed within 1 year of delivery about socio-demographic and reproductive factors. Cases and controls were compared for child's sex, maternal age, education, cohabitation status, race/ethnicity, state, gravidity, parity, body mass index (BMI), and these pregnancy-related conditions: oligohydramnios, breech delivery, bicornuate uterus, plural birth, early amniocentesis (<16 weeks), chorionic villous sampling (CVS), and plural gestation with fetal loss. Odds ratios (ORs) and 95% confidence intervals (CIs) were adjusted for state. Cases were more likely to be male (OR: 2.7; 2.2-3.3) and born to primiparous mothers (1.4; 1.2-1.7) and mothers with BMI ≥30 kg/m(2) (1.4; 1.1-1.8). These associations were greatest in isolated and bilateral cases. ORs for the pregnancy-related conditions ranged from 1.3 (breech delivery) to 5.6 (early amniocentesis). Positive associations with high BMI were confined to cases with a marker of fetal constraint (oligohydramnios, breech delivery, bicornuate uterus, plural birth), inheritance (family history in 1st degree relative), or vascular disruption (early amniocentesis, CVS, plural gestation with fetal loss). Pathogenetic factors associated with obesity may be in the causal pathway for clubfoot.
马蹄足是一种常见的结构畸形,大约每 1000 例活产中就有 1 例。之前关于社会人口学和与妊娠相关的危险因素的研究结果并不一致,除了强烈的男性优势和与初产妇的关联之外。马蹄足的发病机制假说包括胎儿受限、孟德尔遗传和血管破坏,但病因仍难以捉摸。我们在 2007 年至 2011 年期间,在北卡罗来纳州、马萨诸塞州和纽约州进行了一项基于人群的马蹄足病例对照研究。在分娩后 1 年内,对 677 例马蹄足病例和 2037 名非畸形对照的母亲进行了关于社会人口学和生殖因素的访谈。病例和对照的比较因素包括儿童的性别、母亲的年龄、教育程度、同居状况、种族/民族、州、孕次、产次、体重指数(BMI),以及这些与妊娠相关的情况:羊水过少、臀位分娩、双角子宫、多胎妊娠、早期羊膜穿刺术(<16 周)、绒毛膜绒毛取样(CVS),以及多胎妊娠伴有胎儿丢失。比值比(OR)和 95%置信区间(CI)按州进行调整。病例组更可能为男性(OR:2.7;2.2-3.3),且母亲为初产妇(1.4;1.2-1.7)和 BMI≥30kg/m(2)(1.4;1.1-1.8)。这些关联在孤立性和双侧病例中最大。与妊娠相关情况的 OR 范围从 1.3(臀位分娩)到 5.6(早期羊膜穿刺术)。与高 BMI 的正相关仅限于与胎儿受限(羊水过少、臀位分娩、双角子宫、多胎妊娠)、遗传(一级亲属家族史)或血管破坏(早期羊膜穿刺术、CVS、多胎妊娠伴有胎儿丢失)相关的病例。与肥胖相关的发病机制因素可能在马蹄足的发病机制中起作用。