Paladini Dario, Russo MariaGiovanna, Teodoro Adele, Pacileo Giuseppe, Capozzi Giovanni, Martinelli Pasquale, Nappi Carmine, Calabrò Raffaele
Fetal Cardiology Unit, Department of Gynaecology and Obstetrics, University Federico II of Naples, Italy.
Prenat Diagn. 2002 Jul;22(7):545-52. doi: 10.1002/pd.356.
To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus.
From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome.
CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia.
The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.
分析观察到的畸形的种类和发生率；评估各诊断类别中相关的心外和染色体异常及结局；证明胎儿先天性心脏病（CHD）诊断需要多学科方法。
1994年1月至1999年12月，在我们的联合科室对4052例有胎儿CHD风险的妊娠进行检查，共检测出450例CHD。50例诊断未得到确认，剩余400例用于分析。从我们的计算机数据库中检索并分析了以下变量：指征、诊断时的孕周、相关的心外异常、核型、自然病史、妊娠及胎儿 - 新生儿结局。
最常检测到的CHD为室间隔缺损（VSD，75例）、房室通道缺损（AVSD，40例）和左心发育不全综合征（HLH，37例）。355例行核型分析的病例中，非整倍体率为29.3%（整个系列中为25.9%），21三体和18三体的患病率分别为48例和30例。AVSD（80%）、主动脉缩窄（49%）、法洛四联症和VSD（45%）的非整倍体率最高。29.5%的病例（118/400）存在相关的心外异常。至于妊娠结局，有150例（37.5%）终止妊娠，16例（4%）胎儿宫内死亡，85例（21.3%）新生儿死亡。其余149例新生儿存活（存活率37.3%）。在孕龄<25周时检测出CHD的妊娠终止率为65.2%。21例（5%）的病情演变导致预后逐渐恶化，包括半月瓣梗阻和心室发育不全。
与心外和染色体异常的高关联率（29.3%和25.9%）以及可能的预后逐渐恶化需要多学科团队进行正确的管理和随访。与出生后数据相比，某些CHD胎儿的存活率因常与非整倍体相关而严重降低。
