Sunday, February 24, 2008

References on Prenatal CHD Diagnosis Research

It looks like there are others out there who, like me, want to absorb all they can about CHD, incidence rates, diagnosis rates and other information. Often that info is hard to find.

The following references were uncovered by MaryAnn Kuzio, mom to a son with CHD. Thanks for sharing this information MaryAnn!

Trends in Prenatal Diagnosis, Pregnancy Termination, and Perinatal Mortality of Newborns With Congenital Heart Disease in France, 1983-­2000: A Population-Based Evaluation
Babak Khoshnood, MD, PhD*, Catherine De Vigan, MD*, Véronique Vodovar, RN*, Janine Goujard, MD*, Anne Lhomme, MS*, Damien Bonnet, MD{ddagger} and François Goffinet, MD, MPH*
Paris Registry of Congenital Malformations, Epidemiological Research Unit on Perinatal and Women's Health, INSERM U149, Villejuif, France
Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants, Malades, Paris, France

Published online January 3, 2005
PEDIATRICS Vol. 115 No. 1 January 2005, pp. 95-101

Objective. 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.

Methods. 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 before birth, stillbirth, and early (<1 day, 1-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 1983­2000.

Results. Prenatal diagnosis rates for CHD increased from 23.0% (95% confidence interval [CI]: 19.0­27.4) in 1983­1988 to 47.3% (95% CI:43.8­50.8) in 1995­2000. Termination rates increased between 1983 and 1989 (9.9%; 95% CI: 7.2­13.2) and 1989 and 1994 (14.7%; 95% CI: 12.3­17.4) 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 one third in the period 1995­2000 as compared with 1983­1989 (risk ratio, first-week mortality: 0.31; 95% CI: 0.18­0.53). First-week mortality was significantly lower for cases of transposition of great arteries that were diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0­26.7).

Conclusions. 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.


Prenatal diagnosis of six major cardiac malformations in Europe ­: A population based study
Ester Garne and THE EUROCAT WORKING GROUP, From the University of Southern Denmark, Odense C, Denmark
Members of the Eurocat Working Group:Bianchi F, CNR Institute of Clinical Physiology, Pisa (I); Garcia-Minaur S, Hospital de Cruces, Baracaldo (E); Gillerot Y, Institut de Pathologie et de Genetique, Loverval (B); Riano Galan I, Registry of Asturias, Orviedo (E); Nelen V, Provincial Institut voor Hygiene, Antwerp (B); Nevin N, Queens University of Belfast (UK); Philip N, Hopital d¹Enfants de la Timone, Marseilles (F); Stoll C, Hopital de Hautepierre, Strasbourg (F); Stone D, Yorkhill Hospital, Glasgow (UK); de Vigan C, Inserm, Paris (F); de Walle H, University of Groningen (NL).

Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations.

Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries and common A-V-canal.

Results. There were significant differences in the proportion of cases diagnosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without prenatal ultrasound screening (no cases diagnosed prenatally in the Danish registry area). Prenatal detection rate was significantly higher for the three malformations affecting the size of the ventricles (hypoplastic left heart, tricuspid atresia, single ventricle) compared to the other three malformations (46% versus 24%, p<0.001). Time of diagnosis was late, with only one third diagnosed before 24 weeks of gestation. The risk of fetal death seems to be low.

Conclusion. There are significant regional differences in prenatal detection rate of major cardiac malformations in Europe.

Abstract Fetal echocardiography has impacted the fetus with congenital heart disease in many important ways. Advances in fetal echocardiography have allowed for more accurate and earlier detection of cardiac abnormalities. In turn, the prenatal diagnosis of cardiac abnormalities has improved the care and outcome of selected fetuses with severe
cardiac malformations or arrhythmias. Fetal echocardiography has improved the understanding of the development and evolution of congenital heart disease in utero, and it may serve a role in identifying candidates for prenatal intervention. The prenatal diagnosis of congenital heart disease has allowed for better counseling and preparation of families regarding the anticipated prenatal development of the fetus as well as the expected postnatal management plans and prognosis. This article reviews the impact of fetal echocardiography in these and other areas.


Importance of timely diagnosis of congenital heart disease
Houssem Masmoudi & Martial M Massin
Queen Fabiola Children¹s University Hospital, Department of Paediatric Cardiology, Free University of Brussels (ULB), Brussels, Avenue J. J. Crocq, 15 B-1020, Belgium.

Most important types of congenital heart disease can be recognized early during prenatal or neonatal screening. However, a substantial proportion of cardiac defects are not diagnosed in due time. Such delay may lead to serious complications or even death. This article reviews the impact of screening strategies upon the outcome in pediatric cardiac patients.

Objective: About 1% of live born children have congenital heart defects (CHD). Knowledge of the true incidence of CHD is important because of the risk of bacterial endocarditis in patients with heart defects. This knowledge could also serve as a basis for research on the etiology of CHD. The aim of our study was to investigate the incidence of CHD in
children born in Iceland during a ten year period, from 1990 to 1999. A similar study on CHD was carried out in Iceland for children born 1985-1989. The incidence of CHD in the present study was compared to the previous and to similar studies from other countries. Material and methods: Information about the patients were obtained from medical records from two hospitals covering the whole country, a private clinic of pediatric cardiologists, echocardiography database, autopsy reports and death certificates. Distribution of specific heart defects, age at diagnosis, symptoms leading to the diagnosis, referral pattern, treatment and quality of life was investigated. Other congenital defects, chromosomal defects and syndromes in the patients were studied.

Premature children with patent ductus arteriosus (PDA) and children with patent foramen ovale (PFO) or atrial septal defect (ASD) smaller than four millimeters were excluded. We also studied the incidence of bicuspid aortic valve (BAV). All diagnoses were confirmed with echocardiography and in some cases cardiac catheterization.

Results: Between 1990 and 1999 there were 44,013 live births in Iceland, 740 children were diagnosed with a CHD or 1.7% of live born children. Yearly incidence varied from 1.04% of live births in 1991 to 2.34% in 1997.
Male/female ratio was 1/1. The distribution of the defects was following: ventricular septal defect (VSD) 338 (45.7%), ASD 90 (12.2%), PDA 85 (11.5%), valvar pulmonal stenosis 48 (6.5%), BAV 38 (5.1%), coarctation of the aorta 28 (3.8%), tetrology of Fallot 22 (3.0%), transposition of the great arteries 14 (1.9%), aortic stenosis 11 (1.5%), common atrioventricular septal defect 10 (1.4%), mitral valve regurgitation 9 (1.2%), sub-aortic stenosis 7 (0.9%) and hypoplastic left heart syndrome 5 (0.7%). Other defects were less frequent.

About 47% of children with CHD were diagnosed either before birth or before discharge from the delivery institution. A cardiac murmur on examination was the most common symptom leading to the diagnosis of CHD, 631 patients (85.3%). Extracardiac anomalies were seen in 89 patients (12.0%). Chromosomal abnormalities were seen in 36 patients of whom 28 had Down's syndrome. The majority or 499 patients have no symptoms but are still in follow-up, 20 patients have daily symptoms and/or receive medical treatment and 27 patients have died.

Conclusions: Annual incidence of patients diagnosed with a CHD has increased during the study period. This is observed in minor CHD but the incidence of major defects does not alter. This yearly incidence (1.7%) is higher than in
the previous study, where it was 1.1%. The difference can partly be explained by the BAVs, which were excluded in the 1985-1989 study. But the number of CHD diagnosed each year has increased, this being most pronounced in the last three years. The annual incidence in our study is also higher than in other population studies. The most likely
explanation for the higher incidence in our study is the fact that access to pediatric cardiologists is very good in Iceland. Diagnosis, registration and follow-up is conducted by only a few cardiologists for the whole nation and takes place at a single pediatric cardiology center. Of 740 patients diagnosed with CHD in the study period 713 are alive. The outcome of the therapy is good and the majority of the patients has no symptoms.

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