De Vigan C, Khoshnood B, Lhomme A, Vodovar V, Goujard J, Goffinet F
Registre des malformations congénitales de Paris, INSERM U 149, Recherches épidémiologiques en santé périnatale et santé des femmes, 16, avenue Paul-Vaillant-Couturier, 94807 Villejuif Cedex.
J Gynecol Obstet Biol Reprod (Paris). 2005 Feb;34(1 Pt 1):8-16. doi: 10.1016/s0368-2315(05)82665-1.
To assess overall and malformation-specific trends in the prevalence, prenatal diagnosis and pregnancy termination of congenital malformations in the Parisian population.
We used data from the Paris Registry of Congenital Malformations, which includes all births and pregnancy terminations with structural birth defects or chromosomal anomalies. Data on total and live birth prevalence were available for the period 1981-2000 and for prenatal diagnosis and pregnancy terminations for 1983-2000. Twenty malformations were selected for malformation-specific analyses due to their higher frequency and consistent definitions in different classification systems.
For the period 1981-2000, the overall total prevalence of malformations was 3.2%. Prenatal diagnosis rates consistently increased from 16.2% (95% CI, 13.8-18.6) of cases with malformation in 1983 to 69.1% (95% CI, 66.7-71.5) in 2000. Pregnancy terminations increased from 8.8% (95% CI, 7.0-10.8) of cases with malformation in 1983 to 30.1% (95% CI, 27.7-32.6) in 2000.
Registries of congenital malformations provide population-based data on the prevalence of malformations and their associations with other anomalies. Registry-based data can also be used to evaluate the impact of prenatal testing policies for congenital malformations.
评估巴黎人群中先天性畸形的患病率、产前诊断及妊娠终止的总体趋势和特定畸形趋势。
我们使用了巴黎先天性畸形登记处的数据，该数据包括所有有结构出生缺陷或染色体异常的出生和妊娠终止情况。可获得1981 - 2000年期间的总出生患病率和活产患病率数据，以及1983 - 2000年期间的产前诊断和妊娠终止数据。由于20种畸形在不同分类系统中的发生率较高且定义一致，因此被选作特定畸形分析。
在1981 - 2000年期间，畸形的总体总患病率为3.2%。产前诊断率从1983年畸形病例的16.2%（95%可信区间，13.8 - 18.6）持续上升至2000年的69.1%（95%可信区间，66.7 - 71.5）。妊娠终止率从1983年畸形病例的8.8%（95%可信区间，7.0 - 10.8）上升至2000年的30.1%（95%可信区间，27.7 - 32.6）。
先天性畸形登记处提供了基于人群的畸形患病率及其与其他异常关联的数据。基于登记处的数据还可用于评估先天性畸形产前检测政策的影响。
