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Dr. Nicoleta Elena Calomfirescu
Dr. Marius Vicea Calomfirescu
Due to spectacular advances in noninvasive exploration of the unborn child by ultrasound, fetal cardiovascular anomalies can be detected, suspected, and corrected earlier during pregnancy.Here we point out risk of cardiovascular congenital anomalies and achievements in intrauterine fetal evaluation.
Advances in noninvasive exploration of the unborn child offer better reporting of congenital heart disease in utero, and have allowed for more children with congenital cardiac malformations to receive the care they needed and go on to grow to have children themselves. All in all, congenital heart disease accounts for 80% of all cardiovascular disease in Western Europe and North American pregnancies, as opposed to only 10% in other countries (1). Increasingly, modern child care starts in intrauterine life. As a result, prognosis is improved from earlier diagnosis. For example, in first trimester pregnancy high time and spatial resolution in B mode (0,1-0,01 mm), color Doppler, power color Doppler, and spectral Doppler with gate as little as 0,5 mm give us the chance to obtain detailed assessment starting at 11 weeks of gestational age as part of a routine screening practice and starting at 13-14 weeks for specialised echocardiography evaluation (4). Here we point out risk of cardiovascular congenital anomalies and achievements in intrauterine fetal evaluation.
All pregnancies hold a risk of congenital anomalies. With brain anomalies, abnormalities of the heart are the most frequent, however incidence and risk vary according to parental history and pathology. Risk varies:
In all live births, the number of pregnancies at high risk is small that is why the actual burden of overall congenital cardiovascular anomalies actually lies in low risk pregnancies because the number of affected children is greater: (1% of 100,000 low risk live births is 1000 cardiovascular anomalies while 5% of 10,000 high risk live births is 500).
Prenatal genetic testing is justified when outcome can change such as through 1) intervention, 2) termination of pregnancy (TOP) or 3) setting up individualised specialised care - including in utero treatment. However, justification for prenatal genetic testing is a matter of debate because:
In postnatal care, for a patient with detected anomaly or positive genetic testing, preventive care can be provided in terms of lifestyle and healthcare benefits that will help for a better prognosis and to provide a milder extent of the disease and timely intervention.For a look at genetic testing in cardiomyopathies, see here a previous edition of e-journal on the topic.
A- EchographySince congenital cardiovascular anomaly is a phenotypic concept, the tools that can assess structure (morphology) and function are of great use. In utero, one of the best and harmless tools is ultrasound examination of the fetus and its annexes. Indeed, offers improved:
Ultrasound markers in the first trimester can be used for cardiovascular anomaly detection. Those are not specific for cardiovascular anomalies but are associated with much higher risk than that of the general population and fetal aneuploidies.
Fig 1.Three-dimensional rendering 13 weeks, spectacular for parents, apparently normal fetus.On such images, the very rare pentalogy of Cantrell with ectopia cordis could be suspected (abdominal defect with displacement or eventration of the heart through the abdominothoracic wall).
Fig.2 – The markers associated with high risk for cardiovascular anomies.; a.Increased nuchal translucency; b. Reversed a-wave in ductus venosus; c. Tricuspid valve regurgitation2a. Increased nuchal translucency translucency is normal collection of fluid in the nuchal area; increased by more than 3 mm in embryonic and early fetal period raises risk for major cardiovascular anomalies to 6-15% depending on individual value; 2b.Reversed a-wave in ductus venosus; d that was found at 11-14 weeks in TOF, AVSD, CoA, DORV, HLHS, TGA, Ebstein's anomaly, pulmonary stenosis and atresia, aortic stenosis;
2c.Tricuspid valve regurgitation present in 30-35% of major cardiovascular anomalies in first trimester of pregnancy
1) ESC Guidelines on the management of cardiovascular diseases during pregnancy - European Heart Journal doi:10.1093/eurheartj/ehr218;2) Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan - Ultrasound Obstet Gynecol 2006; 27: 107–113; DOI: 10.1002/uog.2677;3) American Society of Echocardiography Guidelines and Standards for Performance of the Fetal Echocardiogram - J Am Soc Echocardiogr 2004;17:803-10, doi:10.1016/j.echo.2004.04.011;4) Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound - Ultrasound Obstet Gynecol 2011; 37: 296–301; DOI: 10.1002/uog.8934;5) Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects; Pereira&all; Obstet Gynecol. 2011 Jun;117(6):1384-916) Balloon Dilation of Severe Aortic Stenosis in the Fetus; Tworetzky&all; Circulation. 2004; 110: 2125-2131 7) Aortic valvuloplasty in the fetus: technical characteristics of successful balloon dilation; Marshal&all; J Pediatr. 2005 Oct;147(4):535-9.8) Screening for Down’s syndrome: UK NSC Policy recommendations 2007-2010: Model of Best Practice - NHS Fetal Anomaly Screening Programme;9) Screening for Down’s syndrome: UK NSC Policy recommendations 2011–2014 Model of Best Practice - NHS Fetal Anomaly Screening Programme;10) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks - Prenat Diagn 2011; 31: 90–102; DOI: 10.1002/pd.2642;11) Contribution of Ductus Venosus Doppler in First-Trimester Screening for Major Cardiac Defects - Fetal Diagn Ther 2011;29:127–134; DOI: 10.1159/000322138; 12) Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects- Obstet Gynecol. 2011 Jun;117(6):1384-91; DOI: 10.1097/AOG.0b013e31821aa720;
Marius Vicea CALOMFIRESCU - MD, PhD, Ob-Gyn Senior Consultant, Maternal-Fetal Medicine Specialist, Fetal Medicine Foundation CertifiedNicoleta Elena CALOMFIRESCU, MD, PhD, MBA, Cardiology Senior ConsultantAuthors' disclosures: None declared.
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