Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study

Abstract

Objectives-To analyse the evolution and outcome in utero and after birth of infants with a fetal diagnosis of congenital heart disease. Design-Inclusion criteria were the fetal diagnosis of congenital heart disease, confirmed postnatally or postmortem, and a complete follow up in utero and after birth. Setting-20 centres operating prenatal echocardiographic screening. Patients-847 cases were included in the study. Gestational age at diagnosis ranged from 15-39 weeks; in 370 cases (43.7%) the diagnosis was made before 24 weeks' gestation. Results-245/847 cases (28.9%) were terminated during pregnancy, 227 following early diagnosis; 128/245 cases (52.2%) had associated anomalies and 117/245 (47.8%) had serious congenital heart disease. Of the remaining 602 cases that continued the pregnancy, 72 (11.9%) died in utero, 259 (43%) died postnatally (83 after surgery or invasive procedures), and 271 infants (45%) survived and presently range in age from 18 months to 13 years old. The mortality rate was higher in cases with associated extracardiac or chromosomal anomalies (68% and 74% of cases continuing pregnancy, respectively), and in cases with heart failure and complex cardiac defects. Conclusions-The data confirm a relevant fetal and postnatal loss in cases with complex congenital heart disease, and major clinical use of prenatal diagnosis in the management of ductus dependent anomalies. Negative prognostic factors for the outcome were associated anomalies and heart failure. (Heart 1999;82:594-599)

The effect of late preterm birth on mortality of infants with major congenital heart defects

“…4,[8][9][10][11][12] Our report evaluated the risk for hospital mortality in infants born with major CHDs who were supported with intensive care. In all, 25 (26%) of the infants died before undergoing surgical procedures, similar to that reported in Fesslova et al 3 …”

“…3,4 We included the presence of extracardiac anomalies in the logistic regression model, and this was not identified as an independent risk factor. We also found a higher frequency of associated non-cardiac anomalies than Patel et al 4 Other investigators reported on outcome of fetuses diagnosed with CHDs (29% were terminated), 3 or of infants diagnosed with CHDs within the first year of life. 1,13 Our inclusion of infants with CHDs who were resuscitated at birth is more relevant to clinical practice in the NICU.…”

“…1,2 Other factors, such as the presence of noncardiac congenital anomalies, can increase the risk of death of infants with CHDs. [3][4][5] The presence of extracardiac anomalies is more prevalent in infants with CHDs. 1 Other factors that might affect morbidity and mortality, such as being small for gestational age (SGA) or having necrotizing enterocolitis, were also reported to be more prevalent in premature infants with CHDs.…”

Der Vier-Kammer-Blick in der fetalen Echokardiografie

“…Abzugrenzen ist der isolierte Septum-primum-Defekt von einem erweiterten Sinus coronarius, der meist infolge einer in ihn mündenden links persistierenden oberen Hohlvene auftritt [23]. Atrioventrikuläre Septum-Defekte (AVSD) sind mit 16 -18 % die am häufigsten pränatal diagnostizierten Herzfehler [20,21]. Sie umfassen einen Septum-primum-Defekt, einen hochliegenden Ventrikelseptum-Defekt sowie eine gemeinsame AV-Klappe.…”

“…Anomalien der Trikuspidalklappe machen 6 -12 % der pränatal diagnostizierten Vitien aus [20,21]. Die Trikuspidaldysplasie und die Ebstein'sche Anomalie zeichnen sich durch einen dysplastischen und insuffizienten Trikuspidalklappenapparat aus, wobei die Segel verdickt erscheinen.…”