Ventriglia F, Colloridi V, Francalanci P, Di Gioia C, Mafrici A, Gallo P
Cattedra di Cardiologia Pediatrica, Università La Sapienza, Roma.
G Ital Cardiol. 1996 Mar;26(3):249-59.
Fetal echocardiography has achieved high sensibility and specificity rates and it has become a reliable tool to detect intra-uterine congenital heart defects.
The purpose of the present study was to clarify the potential of anatomo-clinical correlation in fetal echocardiography not only for diagnosing heart defects, but also for understanding and following their morphogenesis and natural history in utero.
Nine hundred pregnancies, referred by several first-level centers, have been followed up from the sixteenth week to birth, and the newborn baby has been studied, too. In case of either voluntary abortion, or intra-uterine or neonatal death, a post-mortem examination was performed whenever possible.
Since 1982, 110 fetal heart defects have been detected: 94 were diagnosed by means of fetal echocardiography (in 21/94 an autopsy was carried out) and 16 were directly observed at the post-mortem (spontaneous or voluntary abortions not previously referred). The heart defects most commonly observed were the atrioventricular (14.5%), ventricular (9.0%), and atrial (7.2%) septal defects, the absent left atrioventricular connection (8.1%), and atrial isomerism (6.3%). The congenital heart defects diagnosed in utero vary from those observed in the newborn and infants in terms of distribution (because of difficulties in diagnosis, selection of pregnancies, and differences in manifestation) and morphology (because of the coexistence with other extracardiac malformations, the changes due to altered fetal hemodynamics, and the intrauterine evolution of the morphology of cardiac defects).
Heart defects observed in utero have a peculiar prevalence and a different morphology in respect to their infantile counterparts and can be followed in their morphologic evolution.
胎儿超声心动图已具备较高的敏感性和特异性，成为检测宫内先天性心脏缺陷的可靠工具。
本研究旨在明确胎儿超声心动图中解剖学与临床相关性的潜力，这不仅有助于诊断心脏缺陷，还能了解并追踪其在子宫内的形态发生及自然病史。
来自多个一级中心转诊的900例妊娠从孕16周开始随访直至分娩，同时对新生儿也进行了研究。若发生自愿流产、宫内或新生儿死亡，尽可能进行尸检。
自1982年以来，共检测出110例胎儿心脏缺陷：94例通过胎儿超声心动图诊断（其中21例进行了尸检），16例在尸检时直接观察到（之前未转诊的自然流产或自愿流产）。最常见的心脏缺陷为房室间隔缺损（14.5%）、室间隔缺损（9.0%）、房间隔缺损（7.2%）、左房室连接缺如（8.1%）和心房异构（6.3%）。宫内诊断的先天性心脏缺陷在分布（由于诊断困难、妊娠选择及表现差异）和形态（由于与其他心外畸形共存、胎儿血流动力学改变导致的变化以及心脏缺陷形态的宫内演变）方面与新生儿及婴儿中观察到的有所不同。
与婴儿期相比，宫内观察到的心脏缺陷具有独特的患病率和不同的形态，且可追踪其形态演变。
