Khoshnood B, de Vigan C, Vodovar V, Goujard J, Lhomme A, Bonnet D, Goffinet F
Registre des Malformations Congénitales de Paris, Unité de Recherche Epidémiologique en Santé Périnatale et en Santé des Femmes, INSERM U149, 94807 Villejuif Cedex et Université Pierre et Marie Curie Paris VI, Paris.
J Gynecol Obstet Biol Reprod (Paris). 2006 Sep;35(5 Pt 1):455-64. doi: 10.1016/s0368-2315(06)76417-1.
To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations.
A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated prior to birth, stillbirth and early (<1 day, one-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983-2000.
Prenatal diagnosis rates for CHD increased from 23.0% (95%CI: 19.0-27.4) in 1983-1988 to 47.3% (95%CI: 43.8-50.8) in 1995-2000. Termination rates increased between 1983 and 1989 (9.9%; 95%CI: 7.2-13.2) and 1989 and 1994 (14.7%; 95%CI: 12.3-17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than a third in the period 1995-2000 as compared with 1983-1989 (risk ratio, first week mortality: 0.31; 95%CI: 0.18-0.53). First week mortality was significantly lower for cases of transposition of great arteries diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0-26.7).
Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population.
在先天性心脏病（CHD）的产前诊断和医疗管理取得快速进展的时期，研究基于人群的CHD产前诊断、妊娠终止和围产期死亡率的总体及特定畸形趋势，并探讨产前诊断对特定（孤立）心脏畸形早期新生儿死亡率的影响。
从巴黎先天性畸形登记处获得1982例与已知染色体异常无关的CHD病例。主要结局指标为出生前诊断和终止的比例、死产以及（1）所有病例；（2）排除孤立性室间隔缺损的所有病例；（3）大动脉转位、左心发育不全综合征、主动脉缩窄和法洛四联症的特定畸形趋势的早期（<1天、1周）新生儿死亡率的趋势。分析包括用于分析1983 - 2000年期间趋势的累积和分析及二项式回归模型。
CHD的产前诊断率从1983 - 1988年的23.0%（95%CI：19.0 - 27.4）增至1995 - 2000年的47.3%（95%CI：43.8 - 50.8）。终止率在1983年至1989年（9.9%；95%CI：7.2 - 13.2）以及1989年至1994年（14.7%；95%CI：12.3 - 17.4）有所上升，但此后似乎保持稳定。除左心发育不全综合征外，在所检查的其他3种特定畸形中，妊娠终止情况罕见。与1983 - 1989年相比，1995 - 2000年早期新生儿死亡率降至不到三分之一（风险比，第一周死亡率：0.31；95%CI：0.18 - 0.53）。出生前诊断为大动脉转位的病例第一周死亡率显著更低（风险差异：15.4%；95%CI：4.0 - 26.7）。
临床管理的进展以及增加产前诊断可及性的政策，使得巴黎人群中CHD的产前诊断大幅增加，早期新生儿死亡率显著降低。
