Auger Nathalie, Ayoub Aimina, Bilodeau-Bertrand Marianne, Arbour Laura
University of Montreal Hospital Research Centre, 900 Saint-Denis St, Montreal, Quebec H2X 0A9, Canada; Institut national de santé publique du Québec, 190 Cremazie Blvd E, Montreal, Quebec H2P 1E2, Canada; Department of Social and Preventive Medicine, School of Public Health, University of Montreal, 7101 Park Avenue, Montreal, Quebec H3N 1X9, Canada; Department of Epidemiology, Biostatistics, and Occupational Health, McGill University, 1020 Pine Ave W, Montreal, Quebec H3A 1A2, Canada.
University of Montreal Hospital Research Centre, 900 Saint-Denis St, Montreal, Quebec H2X 0A9, Canada; Institut national de santé publique du Québec, 190 Cremazie Blvd E, Montreal, Quebec H2P 1E2, Canada.
Early Hum Dev. 2024 May;192:105995. doi: 10.1016/j.earlhumdev.2024.105995. Epub 2024 Apr 3.
There is evidence that women with congenital anomalies are at risk of having an infant with the same defect. However, the risk of having an infant with a different type of defect is less well described.
We evaluated the extent to which offspring of women with congenital anomalies were at risk of having a birth defect, including defects that were similar to or different from their mother's.
We analyzed a retrospective cohort of 1,311,532 infants born in Canada between 2006 and 2022. The exposure was a maternal congenital anomaly, and the outcome included birth defects in the newborn. We estimated risk ratios (RR) and confidence intervals (CI) for the association of specific maternal anomalies with the risk of having an infant with a similar or different defect using log-binomial regression models adjusted for patient characteristics.
While mothers with anomalies were at risk of having an infant with the same defect, associations with other types of defects were not as strong. For example, compared with no maternal anomaly, maternal urogenital defects were associated with up to 45 times the risk of having an infant with a similar urogenital defect (RR 45.33, 95 % CI 31.92-64.36), but <2 times the risk of having an infant with orofacial clefts (RR 1.89, 95 % CI 1.07-3.34) and clubfoot (RR 1.36, 95 % CI 1.02-1.81).
The findings suggest that maternal congenital anomalies are only weakly associated with occurrence of a different type of defect in offspring.
有证据表明，患有先天性异常的女性生育患有相同缺陷婴儿的风险较高。然而，生育患有不同类型缺陷婴儿的风险则描述得较少。
我们评估了患有先天性异常的女性所生后代出现出生缺陷的风险程度，包括与母亲相似或不同的缺陷。
我们分析了2006年至2022年在加拿大出生的1311532名婴儿的回顾性队列。暴露因素为母亲的先天性异常，结局包括新生儿的出生缺陷。我们使用针对患者特征进行调整的对数二项回归模型，估计特定母亲异常与生育患有相似或不同缺陷婴儿风险之间的风险比（RR）和置信区间（CI）。
虽然患有异常的母亲生育患有相同缺陷婴儿的风险较高，但与其他类型缺陷的关联并不那么强。例如，与母亲无异常相比，母亲泌尿生殖系统缺陷与生育患有相似泌尿生殖系统缺陷婴儿的风险高达45倍（RR 45.33，95% CI 31.92 - 64.36），但与生育患有唇腭裂婴儿（RR 1.89，95% CI 1.07 - 3.34）和马蹄内翻足婴儿（RR 1.36，95% CI 1.02 - 1.81）的风险相比小于2倍。
研究结果表明，母亲的先天性异常与后代出现不同类型缺陷的关联较弱。
