Stoll C, Alembik Y, Dott B, Feingold J
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Am J Med Genet. 1994 Jan 1;49(1):114-7. doi: 10.1002/ajmg.1320490123.
The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non-consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is "yes." In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings. Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples.
近亲结婚父母的后代出现出生缺陷的风险显著高于非近亲结婚父母的后代。鉴于本世纪观察到近亲结婚频率普遍下降，人们不禁要问，在发达国家，近亲结婚是否仍是导致出生缺陷出现的一个因素。基于我们的先天性异常登记数据，我们认为这个问题的答案是“肯定的”。在法国东北部所研究的人群中，已知1.08%的先天性异常病例存在近亲交配情况，而对照组这一比例为0.28%（P<0.001）。所记录的畸形频率与近亲程度相关：在38名畸形儿童中，24名出现在近亲结婚的家庭（比非近亲结婚夫妇的后代高出10.5倍），8名出现在隔代表亲结婚家庭，6名出现在更远亲的近亲结婚家庭。近亲结婚的母亲比非近亲结婚的母亲更常怀孕（P<0.01），且死产情况更多。在为近亲结婚夫妇提供咨询时，必须考虑到这些结果。
