Early fetal echocardiography—A reliable prenatal diagnosis tool

doi:10.1016/j.ajog.2005.05.086

American Journal of Obstetrics and Gynecology

Volume 193, Issue 3, Supplement, September 2005, Pages 1253-1259

https://doi.org/10.1016/j.ajog.2005.05.086 Get rights and content

Objective

This study was undertaken to evaluate the feasibility and to report the detection rate of cardiac anomalies with fetal echocardiography before 16 weeks' gestation.

Study design

This is a retrospective and prospective study of 160 early fetal echocardiograms. The mean gestational age was 13.5 weeks' gestation (range 11-15+6). All women had a repeat echocardiogram at 18 weeks' gestation and pregnancy outcome was obtained.

Results

In all cases, a cardiac 4-chamber view was obtained. The atrioventricular valves were accurately seen in 154 (96%) cases; the ascending aorta and main pulmonary artery were visualized in 152 cases (95%). Overall, a satisfactory cardiac examination was feasible in 152 of cases (95%). There were 20 cardiac defects in this cohort (12.5%), 14 showed abnormalities at the time of the early ultrasound, whereas 6 were reported as normal. The sensitivity of early fetal echocardiography in this high-risk population was 70%, specificity 98%, positive predictive value 87.5%, and negative predictive value 96%.

Conclusion

The fetal heart can be examined early in pregnancy and a significant proportion of major cardiac defects identified.

Section snippets

Methods

With institutional ethics approval, we carried out a combined retrospective and prospective study of 160 early fetal echocardiograms performed at The Hospital for Sick Children. The retrospective study ran from July 2001 until December 2002 (n = 89) and the prospective study ran from January 2003 until March 2004 (n = 71). The indications for early fetal echocardiogram was a pregnancy at risk of cardiac defects; increased nuchal translucency (NT) greater than the 95th percentile (n = 98), family

Results

Early fetal echocardiography was performed in the 160 pregnancies. The mean gestational age at the study, based on the crown-rump length, was 13.5 weeks' gestation (range 11-15+6). In 60 (37.5%) cases, transvaginal ultrasound was performed, as the transabdominal images were deemed inadequate. In all cases the 4-chamber view was obtained and ventricular systolic function qualitatively assessed. Color Doppler was performed in all cases to assess patency of inflow and outflow tracts. The tricuspid

Comment

This study demonstrates that fetal echocardiography before 16 weeks' gestation is technically feasible and enables identification of more than two thirds of major cardiac defects. The evaluation of fetal cardiac abnormalities before 16 weeks can be very helpful in the evaluation of a variety of fetal syndromes and chromosome abnormalities and will add to early prenatal diagnosis of these conditions. The study also provides information regarding the prenatal progression of cardiac lesions.

Our

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Cited by (54)

Prenatal cardiac care: Goals, priorities & gaps in knowledge in fetal cardiovascular disease: Perspectives of the Fetal Heart Society
2020, Progress in Pediatric Cardiology
Citation Excerpt :
Diagnoses of more challenging defects such as total pulmonary venous return and coarctation remain limited with room for progress [30,31]. In addition, providing earlier diagnosis of CHD in the fetus (particularly for high risk mothers) is an active area of study as is improving the ability to assess fetal cardiac anatomy and function with advanced techniques such as tissue Doppler, strain and three-dimensional imaging [32–37]. However, the goal of “advancing the art and science of fetal cardiovascular medicine” continues to be hampered by continued low rates of prenatal detection of CHD on screening ultrasounds in low risk mothers [[38]].
Perinatal cardiovascular care has evolved considerably to become its own multidisciplinary field of care. Despite advancements, there remain significant gaps in providing optimal care for the fetus, child, mother, and family. Continued advancement in detection and diagnosis, perinatal care and delivery planning, and prediction and improvement of morbidity and mortality for fetuses affected by cardiac conditions such as heart defects or functional or rhythm disturbances requires collaboration between the multiple types of specialists and providers. The Fetal Heart Society was created to formalize and support collaboration between individuals, stakeholders, and institutions. This article summarizes the challenges faced to create the infrastructure for advancement of the field and the measures the FHS is undertaking to overcome the barriers to support progress in the field of perinatal cardiac care.
The nuchal translucency examination leading to early diagnosis of structural fetal anomalies
2014, Early Human Development
Citation Excerpt :
Suoka et al. [8] have also reported a high detection rate of major fetal anomalies at 11–14 weeks of gestation. The ability to detect major cardiac anomalies during the 1st trimester of pregnancy has also been published in the past [9–13]. We have reported in the past [14] and recently [15] about a high detection rate of major cardiac anomalies, between 11 and 14 weeks of gestation.
To evaluate the ability to diagnose structural fetal anomalies during or soon after an extended nuchal translucency (NT) examination.
The study population included all women who had a routine NT examination in the ultrasound division of one of three centers. Also included in the study were women referred to these centers following an abnormal NT examination. The sonographers were instructed to pay attention to fetal anomalies while performing the NT examination. Each examination was initially attempted transabdominally. Failure to obtain adequate views transabdominally was an indication for a transvaginal examination. When a structural fetal anomaly was detected or suspected, a full fetal anomaly scan was performed. When a diagnosis could not be established, fetal anatomy scan was repeated after 14 weeks of gestation. Fetal cardiac scanning was performed transvaginally, immediately or within 3 days after an increased NT was observed. When fetal anomalies were diagnosed the patients were informed about the possibilities of terminating the pregnancy or continuing the work-up and follow-up. Overall, ascertainment of fetal outcome was available in 85% of the study population.
We performed 4467 NT examinations during the study period and additional 123 fetal cardiac scanning following an abnormal NT examination. Overall, we performed 365 fetal cardiac scanning between 11 and 14 weeks of gestation. The fetal anomalies detected included the following: three skeletal anomalies, seven brain anomalies, four urinary system anomalies, four abdominal anomalies, two facial anomalies, and 13 cardiac anomalies. Six of the 13 cardiac anomalies were found in the atrioventricular canal. One third of the patients (11/33) elected to discontinue the pregnancy a short time after the detection of the congenital anomaly (until 14 weeks of gestation) and half of the patients (16\33) asked for termination of pregnancy later. More than 60% of the patients (20/33) with congenital anomalies detected following the NT examination refused to have chorionic villous sampling (CVS) or amniocentesis.
The opportunity to scan the fetal anatomy in the early stages of pregnancy, when the NT examination is performed, justifies the approach of extended NT examination.
Diagnosis and management of fetal heart failure
2013, Canadian Journal of Cardiology
Congestive fetal heart failure, defined as inability of the heart to deliver adequate blood flow to organs such as the brain, liver, and kidneys, is a common final outcome of many intrauterine disease states that may lead to fetal demise. Advances in fetal medicine during the past 3 decades now provide the diagnostic tools to detect and also treat conditions that may lead to fetal heart failure. Fetal echocardiographic findings depend on severity of diastolic and systolic dysfunction of both ventricles. At an advanced stage, findings include cardiomegaly; valvar regurgitation; venous congestion; fetal edema and effusions; oligohydramnios; and preferential shunting of blood flow to the brain, heart, and adrenals in the distressed fetus. A useful diagnostic tool to quantify severity of heart failure is the cardiovascular profile score, which is a composite score based on 5 different echocardiographic parameters. To predict outcomes, the score should be interpreted in the context of the underlying disease, as different causes of intrauterine heart failure may have highly variable outcomes. Low fetal cardiac output may result from a myocardial disease (cardiomyopathy, myocarditis, ischemia), abnormal loading conditions (arterial hypertension, obstructive structural heart disease, atrioventricular malformations, twin-to-twin transfusion), arrhythmia, or external cardiac compression (pleural and/or pericardial effusions, cardiac tumours). Treatment options are available for several of these conditions.
L'insuffisance cardiaque congestive fœtale, qui est décrite comme l'incapacité du cœur à fournir un flux sanguin suffisant aux organes tels le cerveau, le foie et les reins, est une issue fréquente de nombreux états morbides intra-utérins pouvant mener à la mort fœtale. Les progrès de la médecine fœtale au cours des 3 dernières décennies fournissent maintenant les outils diagnostiques pour détecter et aussi traiter les affections pouvant mener à l'insuffisance cardiaque fœtale. Les résultats des échocardiographies fœtales dépendent de la gravité des dysfonctionnements diastoliques et systoliques des deux ventricules. À un stade avancé, les résultats incluent la cardiomégalie, la régurgitation valvulaire, la congestion veineuse, l'œdème fœtal et les épanchements, l'oligohydramnios et le shunt préférentiel du flux sanguin vers le cerveau, le cœur et les surrénales du fœtus en détresse. Un outil diagnostique utile pour estimer la gravité de l'insuffisance cardiaque est le score du profil cardiovasculaire, qui est un résultat combiné basé sur 5 paramètres échocardiographiques différents. Pour prédire les résultats, le score devrait être interprété dans le contexte de la maladie sous-jacente, puisque les différentes causes d'insuffisance cardiaque intra-utérine peuvent avoir des résultats très variables. Le faible débit cardiaque fœtal peut entraîner une atteinte du myocarde (cardiomyopathie, myocardite, ischémie), des affections de remplissage anormal (hypertension artérielle, cardiopathie obstructive structurelle, malformations atrioventriculaires, transfusion de jumeau à jumeau), une arythmie ou une compression cardiaque externe (épanchements pleuraux ou péricardiques, ou les deux, tumeurs cardiaques). Des options de traitement sont disponibles pour plusieurs de ces affections.
Imaging the first trimester heart: Ultrasound correlation with morphology
2014, Cardiology in the Young
Prenatal Diagnosis of Congenital Heart Disease and Voluntary Termination of Pregnancy: A Population-Based Study in Qingdao, China
2024, Risk Management and Healthcare Policy
Prenatal Diagnosis of Fetal Heart Failure
2023, Diagnostics

View all citing articles on Scopus

The study was conducted jointly at The Department of Obstetrics and Gynecology, Prenatal Diagnosis Program, Mount Sinai Hospital and The Fetal Cardiac Program, The Hospital for Sick Children, Toronto, Canada.

Presented at the Twenty-Fifth Annual Meeting of the Society for Maternal-Fetal Medicine, Reno, Nev, February 7-12, 2005.

View full text

Transactions of the Twenty-Fifth Annual Meeting of the Society for Maternal-Fetal MedicineEarly fetal echocardiography—A reliable prenatal diagnosis tool

Objective

Study design

Results

Conclusion

Section snippets

Methods

Results

Comment

Am J Obstet Gynecol

Am J Obstet Gynecol

Am J Obstet Gynecol

Lancet

Effect of prenatal diagnosis of critical left heart obstruction on perinatal morbidity and mortality

Am J Perinatol

Comparison of the outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally

Am J Cardiol

Prenatal diagnosis of transposition of the great vessels reduces neonatal morbidity and mortality

Arch Mal Coeur Vaiss

Does a prenatal diagnosis of congenital heart disease alter short-term outcome?

Ultrasound Obstet Gynecol

Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome

Circulation

Balloon dilation of severe aortic stenosis in the fetus: potential for prevention of hypoplastic left heart syndrome: candidate selection, technique, and results of successful intervention

Circulation

First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography

Obstet Gynecol

Transactions of the Twenty-Fifth Annual Meeting of the Society for Maternal-Fetal Medicine
Early fetal echocardiography—A reliable prenatal diagnosis tool