Hostname: page-component-74656f9884-rdgjk Total loading time: 0 Render date: 2026-11-08T01:50:47.666Z Has data issue: false hasContentIssue false
  • English
  • Français

Second trimester cardiac diagnosis: screening standards and outcomes

Published online by Cambridge University Press:  27 August 2014

Sally-Ann B. Clur  and
Caterina M. Bilardo
Sally-Ann B. Clur*
Affiliation:
Department of Pediatric Cardiology, Emma Children’s Hospital, Academic Medical Centre, Amsterdam, The Netherlands The Centre for Congenital Heart Anomalies Amsterdam-Leiden (CAHAL), The Netherlands
Caterina M. Bilardo
Affiliation:
Department of Obstetrics and Gynecology, Academic Medical Centre, Amsterdam, The Netherlands Department of Obstetrics and Gynecology, University Medical Centre Groningen, The Netherlands
*
Correspondence to: S.-A. B. Clur, Department of Pediatric Cardiology, Emma Children’s Hospital, Academic Medical Centre, Meibergdreef 9, P.O. Box 2244, 1100 DD Amsterdam, The Netherlands. Tel: +3 120 566 2950; E-mail: s.a.clur@amc.uva.nl
Rights & Permissions [Opens in a new window]

Abstract

Second trimester screening for congenital heart defects occurs during the routine 18–20 weeks’ anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however, have shown that detection rates obtained by experts are not reproducible in the low-risk peripheral practices where most of the foetal screening takes place. As the majority of foetuses with congenital heart defects are born to mothers with no identifiable risk factors, it is important that widespread screening of the low-risk population occurs. To facilitate this, standard protocols have been introduced in several countries, but they are not universal and have differing sensitivities depending on the screening views advocated and the area studied. Initially, only performing the four-chamber view (basic scan) was advocated. By adding the outflow tract views (extended scan), three-vessel, and laterality views, the sensitivity of the examination can be significantly increased. Unfortunately, the sensitivity of these extended protocols still does not meet that obtainable in experienced hands, reflecting the additional skill required to obtain these extended views. Thus, close links are required between the tertiary centres and the screening centres to teach and maintain the skills required to obtain and interpret the required views, and to support the sonographer’s commitment. Furthermore, an audit system is required to trace false-positive and -negative cases so that targeted interventions can be planned. This is important, as a missed case of prenatal congenital heart defect is potentially a missed opportunity to reduce postnatal morbidity and mortality.

Keywords

Foetal cardiac screeningfoetal echocardiographycongenital heart diseaseprenatal diagnosischromosomal abnormalityfoetus

Information

Type
Original Article
Information
Cardiology in the Young , Volume 24 , Issue S2: Fetal cardiovascular medicine: current perspectives and future hopes , October 2014 , pp. 19 - 25
Copyright
© Cambridge University Press 2014 

Congenital heart defects have a reported incidence of 8–10/1000 live births, making them the most common congenital malformations occurring. About a third of these congenital heart defects are severe and are responsible for significant mortality and morbidity in the neonatal period and infancy.Reference Hoffman and Kaplan1–Reference Nelle, Raio, Pavlovic, Carrel, Surbek and Meyer-Wittkopf4 The idea of screening for foetal malformations began in 1980. The mainstay of current antenatal congenital heart defect detection relies on screening, usually at 20 weeks, aimed at the detection of a possible abnormality.Reference Allan5 In expert hands the majority of congenital heart defects can be diagnosed prenatally by prenatal echocardiography.Reference Nelle, Raio, Pavlovic, Carrel, Surbek and Meyer-Wittkopf4, Reference Meyer-Wittkopf, Cooper and Sholler6–Reference Clur, Van Brussel, Ottenkamp and Bilardo8 Despite this, there has only been a moderate improvement in prenatal detection rates of congenital heart defects over the years. The figures remain disappointing and do not exceed 50% in most studies.Reference Dolk and Loane3–Reference Berkley, Goens, Karr and Rappaport7, Reference Khoshnood, De Vigan and Vodovar9–Reference Garne, Stoll and Clementi19 Screening policies are not universally implemented or uniform; many only require the acquisition of the basic four-chamber view.Reference Garne, Stoll and Clementi19–Reference Allan, Dangel and Fesslova26 In addition, the protocols are not always effectively carried out. In an effort to improve the prenatal detection of congenital heart defects, a nationwide policy for 2010 has been proposed in the United Kingdom,Reference Kirwan27 recommending the inclusion of several views of the foetal heart during 20 weeks’ gestation anomaly scan (Fig 1). This is important, as a missed case of prenatal congenital heart defect is a missed opportunity for further diagnostic procedures, counselling, monitoring, and implementation of patient-tailored (intrauterine, perinatal, and postnatal) management, and is potentially a missed chance to reduce postnatal morbidity and mortality.Reference Bonnet, Coltri and Butera28–Reference Kaguelidou, Fermont, Boudjemline, Le Bidois, Batisse and Bonnet35

Figure 1

Five screening views used to evaluate the foetal heart. (a) The four-chamber view, (b) left ventricular outflow tract (LVOT) view, (c) right ventricular outflow tract (RVOT) view, (d) three-vessel view, and (e) laterality view. Ao=aorta; DA=arterial duct; LA=left atrium; LV=left ventricle; PA=pulmonary artery; RA=right atrium; SVC=superior vena cava.

Factors associated with low detection rates

A moderate improvement in the detection rates of congenital heart defect screening has been seen worldwide over the past 30 years; however, there is much area variability and the figures remain disappointing.Reference Khoshnood, De Vigan and Vodovar9, Reference Friedberg, Silverman and Moon-Grady12, Reference Bull18, Reference Garne, Stoll and Clementi19, Reference Kaguelidou, Fermont, Boudjemline, Le Bidois, Batisse and Bonnet35–Reference Michelfelder and Cnota41 The assessment of the heart appears to be the most difficult aspect of the 20-week ultrasound examination, possibly because of its rapid movement and the influence of foetal position.Reference Allan5 This is supported by the findings of lower congenital heart defect detection rates compared with that of other malformations in many studies.Reference Tegnander, Eik-Nes, Johansen and Linker15, Reference Garne, Loana and Dolk16

Availability is important for a successful screening programme. More than 90% of the mothers undergo a foetal ultrasound in most countries.Reference Friedberg, Silverman and Moon-Grady12, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 Although widely practiced, a routine antenatal ultrasound was not yet included in the standard care of a pregnant woman in the United States of America in 2003,Reference Robinson, Simpson and Abuhamad42 and a screening ultrasound has only been universally available in the Netherlands since 2007. Failure to undergo a screening ultrasound has been associated with delayed prenatal care, higher parity, and residence in a low-income area, whereas some studies have not found socio-economic status to be a factor.Reference Friedberg, Silverman and Moon-Grady12, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 Gestational age, maternal body habitus, previous maternal abdominal surgery, position of the foetus, amniotic fluid volume, ultrasound machine used, and technical difficulty in obtaining the views may all influence the ability to conduct an adequate screening study.Reference Friedberg, Silverman and Moon-Grady12, Reference Stoll, Dott, Alembik and De Geeter37, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Robinson, Simpson and Abuhamad42–Reference Simpson44

The location where the ultrasound in performed significantly affects its sensitivity. Better detection rates are found in high- versus low-risk clinics and in university centres versus community practices.Reference Friedberg, Silverman and Moon-Grady12, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Michelfelder and Cnota41, Reference Simpson44–Reference Sklansky, Berman, Pruetz and Chang46 The ultrasound operator and reader’s experience and motivation are important factors.Reference Tegnander and Eik-Nes11, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Michelfelder and Cnota41, Reference Crane, Lefevre and Winborn47 A referral for specialised foetal echocardiography should follow all abnormal screening test findings, which, unfortunately, only occurred in 42% of cases in one study.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 Even then, 3% of the congenital heart defect diagnoses were missed. These were predominantly cases of coarctation of the aorta.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40

Presently, specialised foetal echocardiography is reserved for high-risk pregnancies. Of the many risk factors for congenital heart defects, including family history, maternal metabolic disease, teratogen exposure, known aneuploidy, other foetal abnormalities, foetal arrhythmia, maternal systemic lupus erythematosus, and increased nuchal translucency, the risk factor most predictive of a congenital heart defect is an abnormal cardiac assessment at routine ultrasound.Reference Ogge, Gaglioti, Maccanti, Fraggiano and Todros38, Reference Robinson, Simpson and Abuhamad42, Reference Clur, van Brussel, Mathijssen, Pajkrt, Ottenkamp and Bilardo48 Most cases of congenital heart defects are found in mothers without risk factors.Reference Clur, van Brussel, Mathijssen, Pajkrt, Ottenkamp and Bilardo48–Reference Cooper, Enderlein, Dyson, Roge and Tarnoff51 Thus, to be effective, universal rather than targeted screening should be adopted.Reference Robinson, Simpson and Abuhamad42, Reference Achiron, Glaser, Gelernter, Hegesh and Yagel49, Reference Sharland52

Interestingly, the detection rates are better if there is a family history of a congenital heart defect, or if there are associated extracardiac anomalies, presumably because the heart is examined more thoroughly and because a referral to a tertiary centre is more likely.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 Failure to diagnose a congenital heart defect prenatally leads to significantly higher ventilation rates and more usage of prostaglandins as they are often started, sometimes unnecessarily, when a baby with a suspected congenital heart defect is transferred from the periphery to a tertiary centre.Reference Friedberg, Silverman and Moon-Grady12

Screening views used in standard protocols

The four-chamber view

The idea of evaluating the heart by looking at one slice, the four-chamber view, was introduced in 1985 and was shown to be successful in the hands of the routine sonographer.Reference Sharland and Allan17 Initial reports of the screening efficacy of the four-chamber view were very promising, with a reported sensitivity of 80–87% in early studies.Reference Allan, Crawford, Chita and Tynan53, Reference Copel, Pilu, Green, Hobbins and Kleinman54 However, later studies have failed to reproduce these high figures.Reference Tegnander, Eik-Nes, Johansen and Linker15, Reference Crane, Lefevre and Winborn47, Reference Luck55 Unfortunately, this view is still not correctly evaluated in all 20 weeks of screening ultrasound examinations and has a reported sensitivity of 30–50%.Reference Tegnander, Eik-Nes, Johansen and Linker15, Reference Sharland and Allan17, Reference Stoll, Dott, Alembik and De Geeter37, Reference Bronshtein, Zimmer, Gerlis, Lorber and Drugan45, Reference Crane, Lefevre and Winborn47, Reference Luck55

The most frequently detected congenital heart defects are those that are best seen on the four-chamber view and are thus those that affect the cardiac chambers and atrio-ventricular valves such as single ventricle, atrio-ventricular septal defect, hypoplastic left or right heart syndrome, and Ebstein’s anomaly.Reference Friedberg, Silverman and Moon-Grady12, Reference Tegnander, Eik-Nes, Johansen and Linker15, Reference Montana, Khoury, Cragan, Sharma, Dhar and Fyfe36, Reference Stoll, Dott, Alembik and De Geeter37, Reference Michelfelder and Cnota41, Reference Robinson, Simpson and Abuhamad42, Reference Simpson44, Reference Achiron, Glaser, Gelernter, Hegesh and Yagel49, Reference Chew, Halliday, Riley and Penny56 Conotruncal lesions are often missed as they have, or may appear to have, a normal four-chamber view in as many as 70% of cases.Reference Friedberg, Silverman and Moon-Grady12, Reference Sharland and Allan17, Reference Paladini, Rustico and Todros57 Examples include transposition of the great arteries, tetralogy of Fallot, truncus arteriosus, and double outlet right ventricle.Reference Robinson, Simpson and Abuhamad42, Reference Carvalho, Mavrides, Shinebourne, Cambell and Thilaganathan58, Reference Wu, Li and Ju59 Left ventricular outflow tract abnormalities will also often be missed if only the four-chamber view is evaluated. Owing to the thin appearance of the superior aspect of the interventricular septum, especially on the apical four-chamber view, subaortic ventricular septal defects can be overdiagnosed.Reference Simpson44 Ventricular hypoplasia, cardiomyopathies, and cardiac tumors may develop as the pregnancy progresses and only become apparent later, and pulmonary and aortic stenosis may be difficult to detect at 20 weeks’ gestation.Reference Hornberger, Need and Benacerraf60

Of course, certain diagnoses cannot be made prenatally, such as the patent arterial duct and secundum atrial septal defect. The diagnosis of aortic coarctation remains very difficult with high false-positive and -negative rates even in experienced hands.Reference Clur, Van Brussel, Ottenkamp and Bilardo8, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Matsui, Mellander, Roughton, Jicinska and Gardiner61, Reference Sharland, Chan and Allan62 This is because it is a lesion that develops postnatally when the arterial duct closes and the prenatal indicators are non-specific. A small ventricular septal defect may easily be missed; however, with the current improved technology, there appears to be an epidemic of prenatally diagnosed haemodynamically insignificant ventricular septal defects, potentially leading to unnecessary parental distress if not correctly counselled.

Outflow tract view

Some defects commonly missed in the four-chamber view, such as transposition of the great arteriesReference Roberts63 and left ventricular outflow tract obstruction,Reference Sklansky, Berman, Pruetz and Chang46 have a very short presymptomatic period and may require urgent intervention postnatally, especially if the patient’s survival is dependent on arterial duct or oval fossa patency. Affected foetuses are better delivered in centres with immediate access to treatment. Studies have shown that prenatal detection improves the outcome,Reference Bonnet, Coltri and Butera28–Reference Kaguelidou, Fermont, Boudjemline, Le Bidois, Batisse and Bonnet35 and therefore strategies for increasing the detection of outflow tract abnormalities could improve the outcome of these babies.Reference Sharland, Chan and Allan62 This is the rationale behind the “extended view” screening protocols.

Initially, investigators suggested the inclusion of the five-chamber view or left ventricular outflow tract view, and later the addition of the right ventricular outflow tract view was advocated for a complete study.Reference Robinson, Simpson and Abuhamad42, Reference Bromley, Estroff and Sanders50, Reference DeVore64 Overall, detection rates can be increased from 40 to 50% using the four-chamber view alone to 75–90%, with the inclusion of the outflow tract views;Reference Berkley, Goens, Karr and Rappaport7, Reference Khoo, van Essen, Richardson and Robertson39, Reference Achiron, Glaser, Gelernter, Hegesh and Yagel49, Reference Bromley, Estroff and Sanders50, Reference Chew, Halliday, Riley and Penny56, Reference Carvalho, Mavrides, Shinebourne, Cambell and Thilaganathan58, Reference DeVore64–Reference Barboza, Dajani, Glenn and Angtuaco66 however, unfortunately, implementation of the extended protocol is still far from universal. Studies looking at the sensitivity of the outflow tract view in screening studies have also shown suboptimal detection rates in the order of 57–65%.Reference Tegnander, Williams, Johansen, Blaas and Eik-Nes10, Reference Friedberg, Silverman and Moon-Grady12, Reference Ogge, Gaglioti, Maccanti, Fraggiano and Todros38, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 The major risk factor for a missed congenital heart defect is the failure to detect the congenital heart defect at the screening ultrasound, particularly for defects expected to have only or mainly an abnormal outflow tract view.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 In a recent study, 42% of the congenital heart defect cases with an expected abnormal four-chamber view, 64% with an expected abnormal outflow tract view, and 30% with both views expected to be abnormal were missed prenatally.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 The detection of congenital heart defects, especially when using the outflow tract view, depends on the skill of the operator required to visualise the outflow tracts as well as the experience required to correctly interpret the anatomy.Reference Tegnander and Eik-Nes11, Reference Friedberg, Silverman and Moon-Grady12, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Crane, Lefevre and Winborn47, Reference Paladini, Sglavo, Greco and Nappi67 The sonographer should have access to up-to-date technology, have a high index of suspicion for a cardiac abnormality, and have a structured, methodical approach to the foetal heart screening examination.Reference Robinson, Simpson and Abuhamad42 Furthermore, the sonographer has to have the ability to interpret the images obtained to recognise the normal from the abnormal views.Reference Tegnander and Eik-Nes11, Reference Friedberg, Silverman and Moon-Grady12, Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40

The three-vessel view

Both the three-vessel view and three-vessel and trachea view have been reported to be efficient in identifying several congenital heart defects.Reference Wu, Li and Ju59, Reference Yoo, Lee and Kim68–Reference Tongsong, Tongprasert, Srisupundit and Luewan71 A recent report prospectively assessed the use of an integration of both views in the prenatal detection of congenital heart defects and found an overall sensitivity of 71% – 89% when ventricular septal defects were excluded – and a 100% sensitivity in the case of transposition of the great arteries, common arterial trunk, aorta and pulmonary stenosis, and ductal aneurysm. Most cases of double outlet right ventricle, Ebstein’s anomaly, tricuspid atresia, and two of three cases of tetralogy of Fallot were identified. Factors that were considered in the evaluation of the three-vessel view included: vessel size, alignment, arrangement, number, sidedness, and direction of flow.Reference Tongsong, Tongprasert, Srisupundit and Luewan71 To improve the prenatal detection rate of congenital heart defects, the addition of the three-vessel view to the extended routine screening protocol has been proposed.Reference Yoo, Lee and Kim68, Reference Yagel, Arbel, Anteby, Raveh, Achiron and Achiron69 The views are easy to teach and learn as their sonologic planes are orthogonal to the foetal body long axis, and can be easily obtained by tilting the transducer a little cranially from the four-chamber view.Reference Tongsong, Tongprasert, Srisupundit and Luewan71 In a study on 8025 foetuses, the four-chamber view alone was found to have a sensitivity of 66%. The addition of the three-vessel view improved the sensitivity to 81%.Reference Wu, Li and Ju59

Standardisation of screening

Screening policies are unfortunately not universally implemented or uniform. Despite the definite benefit obtained by the addition of extended screening views, consensus statements of many professional bodies only recommend the performance of the four-chamber view and, “if technically feasible”, the outflow tract view.20–Reference Allan, Dangel and Fesslova26 In Canada, the outflow tract view is now recommended,Reference Cargill, Morin and Bly72 and in the Netherlands (2007) the four-chamber view, outflow tract view, and the three-vessel view are included.73 In the United Kingdom, the Fetal Anomaly Screening Program advocates including the laterality view, four-chamber view and outflow tract views to improve the standards of practice in the future. Colour Doppler is as yet not required.Reference Kirwan27 Advanced training with regular updates is required to maintain the skill required to obtain the extended views and this may explain why many screening programmes are still limited to just a four-chamber view.Reference Tegnander, Eik-Nes, Johansen and Linker15, Reference Ogge, Gaglioti, Maccanti, Fraggiano and Todros38, Reference Carvalho, Mavrides, Shinebourne, Cambell and Thilaganathan58, Reference Hunter, Heads, Wyllie and Robson65

Future directions

Automated screening

Improvements in image acquisition and analysis will result in more complete diagnosis of malformations in all systems of the foetus at the screening level.Reference Kaguelidou, Fermont, Boudjemline, Le Bidois, Batisse and Bonnet35, Reference Michelfelder and Cnota41 The advent of 3D and 4D ultrasound has revolutionised the detection of foetal abnormalities. With the advent of spatiotemporal image correlation described by DeVore et al,Reference DeVore, Falkensammer, Sklansky and Platt74 cardiac volumes can be obtained in 95% of cases in specialist centres, with 70–90% adequate visualisation of the heart. The two ways in which spatiotemporal image correlation can improve congenital heart defect detection rates are acquisition of cardiac volumes locally at the screening centre, with subsequent analysis by an expert foetal echocardiographer at a remote site; and storage and analysis of the volumes by the examiner at a later time.Reference Paladini, Sglavo, Greco and Nappi67, Reference DeVore, Falkensammer, Sklansky and Platt74, Reference Vinals, Poblete and Giuliano75 Sonographers need to be able to acquire clinically valid cardiac data sets and to discard suboptimal ones and the reviewer must be able to detect the cardiac abnormalities.Reference Paladini, Sglavo, Greco and Nappi67 Using the spatiotemporal image correlation technology, a single volume is acquired from the apical four-chamber view, which all screening sonographers should be able to obtain. This then removes the need for manual insonation of the outflow tract, making it a potential option for screening in the future.Reference Paladini, Sglavo, Greco and Nappi67 However, to obtain an optimal spatiotemporal image correlation can be challenging owing to the dependence on foetal position and foetal immobility.

Colour Doppler

As yet, colour Doppler has not been systematically included into screening protocols, but there is an intention in the United Kingdom to introduce it in the future.Reference Kirwan27 With colour Doppler, abnormal flow can be identified allowing for better detection of ventricular septal defects and ductally dependent lesions.

Serum markers

The use of second trimester serum markers to augment the ultrasound screening for congenital heart defects has been considered.Reference Jelliffe-Pawlowski, Baer, Moon-Grady and Carrier76

Increased nuchal translucency and earlier scans

The measurement of the nuchal translucency at 11–14 weeks is being proposed for the screening of all pregnancies.Reference Mogra, Alabbad and Hyett77 Studies have shown that the risk for congenital heart defects increases with increasing nuchal translucency measurement, especially when associated with tricuspid regurgitation and an abnormal ductus venosus Doppler.Reference Mogra, Alabbad and Hyett77–Reference Bilardo, Muller, Zikulnig, Schipper and Hecher81 This has led to a call for earlier screening ultrasounds, at 14–18 weeks, in selected cases after the nuchal translucency measurement (e.g. nuchal translucency ⩾3 mm).Reference Clur, Ottenkamp and Bilardo79, Reference Sairam and Carvalho82 This would allow earlier diagnosis and decision making, or reassurance, depending on the findings, but requires simple guidelines to ensure uniformity of care, adequate local resources, and skilled personnel.Reference Clur, Ottenkamp and Bilardo79, Reference Sairam and Carvalho82, Reference Bilardo, Muller, Pajikrt, Clur, van Zalen and Bijlsma83

Conclusions

A missed case of prenatal congenital heart defect is potentially a missed opportunity to reduce postnatal morbidity and mortality.Reference Bonnet, Coltri and Butera28–Reference Kaguelidou, Fermont, Boudjemline, Le Bidois, Batisse and Bonnet35 Unfortunately, despite a high uptake of foetal screening, the detection rates for congenital heart defect remain low. Screening programmes implemented and described so far depend heavily on the ultrasound views used and the experience of the professionals performing and reading the scans.Reference Tegnander and Eik-Nes11 The sensitivity is the lowest when the screening is performed by an inexperienced sonographer, using an outdated ultrasound equipment, in the absence of an associated extracardiac abnormality, in low-risk community practices, in the absence of a family history of congenital heart defect, and in lesions with only or mainly an abnormal outflow tract view or abnormal three-vessel view.Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40 Detection rates using only the four-chamber view are much lower than those achieved using an extended screening procedure (four-chamber view with outflow tract views or three-vessel view).Reference Ogge, Gaglioti, Maccanti, Fraggiano and Todros38–Reference Pinto, Keenan, Minich, Puchalski, Heywood and Botto40, Reference Wu, Li and Ju59

Screening protocols should be standardised to include at least the four-chamber view and outflow tract view, and the three-vessel view if possible.Reference Kirwan27, Reference Cargill, Morin and Bly72, 73 Close links are required between the tertiary centres and the screening centres to teach and maintain the skills required to obtain and interpret the required views.Reference Friedberg, Silverman and Moon-Grady12, Reference Sharland52 An audit system tracing false-positive and -negative cases can assist targeted interventions (training) to improve the skills of those performing and reading the scans. Regular refresher courses are also essential to keep the skills updated.Reference Sharland52

Conflicts of Interest

We have no conflicts of interest to declare.

References

1.Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890–1900.Google Scholar
2.Vaartjes, I, Bakker, MK, Bots, ML. Congenital heart defects in children, facts and figures. Hart Bulletin 2007; 38: 164–166; (in Dutch).Google Scholar
3.Dolk, H, Loane, M. EUROCAT Special report: congenital heart defects in Europe 2000–2005, EUROCAT Central Registry, University of Ulster, Newtownabbey, Northern Ireland, 2009. Retrieved January–April, 2012, from www.eurocat.ulster.ac.ukGoogle Scholar
4.Nelle, M, Raio, L, Pavlovic, M, Carrel, T, Surbek, D, Meyer-Wittkopf, M. Prenatal diagnosis and treatment planning of congenital heart defects – possibilities and limits. World J Pediatr 2009; 5: 18–22.Google Scholar
5.Allan, LD. Fetal cardiac scanning today. Prenat Diagn 2010; 30: 639–643.Google Scholar
6.Meyer-Wittkopf, M, Cooper, S, Sholler, G. Correlation between fetal cardiac diagnosis by obstetric and pediatric cardiologist sonographers and comparison with postnatal findings. Ultrasound Obstet Gynecol 2001; 17: 391–397.Google Scholar
7.Berkley, EM, Goens, MB, Karr, S, Rappaport, V. Utility of fetal echocardiography in postnatal management of infants with prenatally diagnosed congenital heart disease. Prenat Diagn 2009; 29: 654–658.CrossRefGoogle ScholarPubMed
8.Clur, SA, Van Brussel, PM, Ottenkamp, J, Bilardo, CM. Prenatal diagnosis of cardiac defects: accuracy and benefit. Prenat Diagn 2012; 32: 450–455.Google Scholar
9.Khoshnood, B, De Vigan, C, Vodovar, V, et al. Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983–2000: a population based evaluation. Pediatrics 2005; 115: 95–101.Google Scholar
10.Tegnander, E, Williams, W, Johansen, OJ, Blaas, HG, Eik-Nes, SH. Prenatal detection of heart defects in a non-selected population of 30 149 fetuses – detetction rates and outcome. Ultrasound Obstet Gynecol 2006; 27: 252–265.Google Scholar
11.Tegnander, E, Eik-Nes, SH. The examiner’s ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound Obstet Gynecol 2006; 28: 8–14.Google Scholar
12.Friedberg, MK, Silverman, NH, Moon-Grady, AJ, et al. Prenatal detection of congenital heart disease. J Pediatr 2009; 155: 26–321.Google Scholar
13.Russo, MG, Paladini, D, Pacileo, G, et al. Changing spectrum and outcome of 705 fetal congenital heart disease cases: 12 years’ experience in a third-level center. J Cardiovasc Med (Hagerstown) 2008; 9: 910–915.CrossRefGoogle Scholar
14.Sharland, G. Fetal cardiac screening: why bother? Arch Dis Child Fetal Neonatal Ed 2010; 95: F64–F68.Google Scholar
15.Tegnander, E, Eik-Nes, SH, Johansen, OJ, Linker, DT. Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population. Ultrasound Obstet Gynecol 1995; 5: 372–380.Google Scholar
16.Garne, E, Loana, M, Dolk, H, et al. Prenatal diagnosis of severe structural malformations in Europe. Ultrasound Obstet Gynecol 2005; 25: 6–11.Google Scholar
17.Sharland, GK, Allan, LD. Screening for congenital heart disease prenatally. Results of a 2½ year study in South East Thames Region. Br J Obstet Gynaecol 1992; 99: 220–225.Google Scholar
18.Bull, C. Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. British Peadiatric Cardiac Association. Lancet 1999; 35: 1242–1247.CrossRefGoogle Scholar
19.Garne, E, Stoll, C, Clementi, M, Euroscan Group. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol 2001; 17: 386–391.Google Scholar
20.International Society of Ultrasound in Obstetrics and Gynecology. Cardiac screening examination of the fetus: guidelines for performing the “basic” and “extended basic” cardiac scan. Ultrasound Obstet Gynecol 2006; 27: 107–113.Google Scholar
21.American College of Obstetricians and Gynecologists Committee on Practice Bulletins. ACOG practice bulletin no. 58. Ultrasound in pregnancy. Obstet Gynecol 2004; 104: 1449–1458.Google Scholar
22.American Institute of Ultrasound in Medicine. AIUM practice guidelines for the performance of obstetric ultrasound examinations. J Ultrasound Med 2011; 29: 157–166.Google Scholar
23. American College of Radiology Practice Guidelines for the Performance of Obstetrical Ultrasound, 2007. Retrieved January–April, 2012, from http://www.acr.org/SecondaryMainMenuCategories/quality safety/guidelines/us/us obstetrical.aspx.Google Scholar
24.Rychik, J, Ayres, N, Cuneo, B, et al. American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram. J Am Soc Echocardiogr 2004; 17: 803–810.Google Scholar
25.Lee, W, Allan, L, Carvalho, JS, et al. ISUOG consensus statement; what constitutes a fetal echocardiogram? Ultrasound Obstest Gynecol 2008; 32: 239–242.Google Scholar
26.Allan, L, Dangel, J, Fesslova, V, et al. Recommendations for the practice of fetal cardiology in Europe. Cardiol Young 2004; 14: 109–114.Google Scholar
27.Kirwan, D. The HHS Fetal Anomaly Screening Programme (NHS FASP), 2010. 18+0 to 20+6 Weeks Fetal Anomaly Scan National Standards and Guidance for England. Retrieved January–April, 2012, from http://fetalanomaly.screening.nhs.uk/standardsandpoliciesGoogle Scholar
28.Bonnet, D, Coltri, A, Butera, G, et al. Detection of transposition of the great arteries in fetuses reduced neonatal morbidity and mortality. Circulation 1999; 99: 916–918.Google Scholar
29.Tworetzky, W, McElhinney, DB, Reddy, VM, Brook, MM, Hanley, FL, Silverman, NH. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation 2001; 103: 1269–1273.CrossRefGoogle ScholarPubMed
30.Mahle, WT, Clancy, RR, McGaurn, SP, Goin, JE, Clark, BJ. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics 2001; 107: 1277–1282.Google Scholar
31.Franklin, O, Burch, M, Manning, N, Sleeman, K, Gould, S, Archer, N. Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidity. Heart 2002; 87: 67–69.Google Scholar
32.Jouannic, JM, Gavard, L, Fermont, L, et al. Sensitivity and specificity of prenatal features of physiological shunts to predict neonatal clinical status in transposition of the great arteries. Circulation 2004; 110: 1743–1746.Google Scholar
33.Makikallio, K, McElhinney, DB, Levine, JC, et al. Fetal aortic valve stenosis and the evolution of hypoplastic left heart syndrome and the selection of patients for fetal intervention. Circulation 2006; 113: 1401–1405.Google Scholar
34.Glatz, JA, Tabbutt, S, Gaynor, JW, et al. Hypoplastic left heart syndrome with atrial level restriction in the era of prenatal diagnosis. Ann Thorac Surg 2007; 84: 1633–1638.Google Scholar
35.Kaguelidou, F, Fermont, L, Boudjemline, Y, Le Bidois, J, Batisse, A, Bonnet, D. Fœtal echocardiographic assessment of tetralogy of Fallot and post-natal outcome. Eur Heart J 2008; 29: 1432–1438.Google Scholar
36.Montana, E, Khoury, MJ, Cragan, JD, Sharma, S, Dhar, P, Fyfe, D. Trends and outcomes after prenatal diagnosis of congenital cardiac malformations by fetal echocardiography in a well defined birth population, Atlanta, Georgia, 1990–1994. J Am Coll Cardiol 1996; 28: 1805–1809.Google Scholar
37.Stoll, C, Dott, B, Alembik, Y, De Geeter, B. Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination. Ann Genet 2002; 45: 21–27.CrossRefGoogle ScholarPubMed
38.Ogge, G, Gaglioti, P, Maccanti, S, Fraggiano, F, Todros, T. Prenatal screening for congenital heart disease with four-chamber and outflow-tract views: a multicenter study. Ultrasound Obstet Gynecol 2006; 28: 779–784.Google Scholar
39.Khoo, NS, van Essen, P, Richardson, M, Robertson, T. Effectiveness of prenatal diagnosis of congenital heart defects in South Australia; a population analysis 1999–2003. Aust NZ J Obstet Gynaecol 2008; 48: 559–563.Google Scholar
40.Pinto, NM, Keenan, HT, Minich, LL, Puchalski, MD, Heywood, M, Botto, LD. Barriers to prenatal detection of congenital heart disease: a population based study. Ultrasound Obstet Gynecol 2012; 40: 418–425.Google Scholar
41.Michelfelder, EC, Cnota, JF. Prenatal diagnosis of congenital heart disease in an era of near-universal ultrasound screening: room for improvement. J Ped 2003; 155: 9–11.Google Scholar
42.Robinson, JN, Simpson, LL, Abuhamad, AZ. Screening for fetal heart disease with ultrasound. Clin Obstet Gynaecol 2003; 46: 890–896.Google Scholar
43.DeVore, GR, Medaris, AL, Bear, MB, Horenstein, J, Platt, LD. Fetal echocardiography; factors that influence imaging of the fetal heart during the second trimester of pregnancy. J Ultrasound Med 1993; 12: 659–663.Google Scholar
44.Simpson, L. Screening for congenital heart disease. Obstst Gynecol Clin N Am 2004; 31: 51–59.Google Scholar
45.Bronshtein, M, Zimmer, EZ, Gerlis, LM, Lorber, A, Drugan, A. Early ultrasound diagnosis of fetal congenital heart defects in high-risk and low-risk pregnancies. Obstet Gynecol 1993; 82: 225–229.Google Scholar
46.Sklansky, MS, Berman, DP, Pruetz, JD, Chang, RK. Prenatal screening for major congenital heart disease: superiority of outflow tracts over 4-chamber view. J Utrasound Med 2009; 38: 889–899.CrossRefGoogle Scholar
47.Crane, JP, Lefevre, ML, Winborn, RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. Am J Obstet Gynecol 1994; 171: 393–399.Google Scholar
48.Clur, SAB, van Brussel, PM, Mathijssen, IB, Pajkrt, E, Ottenkamp, J, Bilardo, CM. Audit of 10 years of echocardiography. Prenat Diagn 2011; 31: 1134–1140.Google Scholar
49.Achiron, R, Glaser, J, Gelernter, I, Hegesh, J, Yagel, S. Extended fetal echocardiographic examination detecting cardiac malformations in low risk pregnancies. BMJ 1992; 304: 671–674.Google Scholar
50.Bromley, G, Estroff, JA, Sanders, SP, et al. Fetal echocardiography: accuracy and limitations in a population at high and low risk for heart defects. Am J Obstet Gynecol 1992; 166: 1473–1481.Google Scholar
51.Cooper, MJ, Enderlein, MA, Dyson, DC, Roge, CL, Tarnoff, H. Fetal echocardiography: retrospective review of clinical experience and an evaluation of indications. Obstet Gynecol 1995; 86: 577–582.Google Scholar
52.Sharland, G. Routine fetal screening: what are we doing and what should we do? Prenat Diagn 2004; 24: 1123–1129.Google Scholar
53.Allan, LD, Crawford, DC, Chita, SK, Tynan, MJ. Prenatal screening for congenital heart disease. BMJ 1986; 292: 1717–1719.Google Scholar
54.Copel, JA, Pilu, G, Green, J, Hobbins, JC, Kleinman, CS. Fetal echocardiographic screening for congenital heart disease: the importance of the four chamber view. Am J Obstet Gynecol 1987; 157: 648–655.Google Scholar
55.Luck, CA. Value of routine ultrasound scanning at 19 weeks; a four year study of 8849 deliveries. BMJ 1992; 304: 1474–1478.Google Scholar
56.Chew, C, Halliday, JL, Riley, MM, Penny, DJ. Population-based study of antenatal detection of congneital heart disease by ultrasound examination. Ultrasound Obstet Gynecol 2007; 29: 619–624.Google Scholar
57.Paladini, D, Rustico, M, Todros, D, et al. Conotruncal anomalies in prenatal life. Ultrasound Obstet gynecol 1996; 8: 241–348.CrossRefGoogle ScholarPubMed
58.Carvalho, JS, Mavrides, E, Shinebourne, EA, Cambell, S, Thilaganathan, B. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 2002; 88: 387–391.Google Scholar
59.Wu, Q, Li, M, Ju, L, et al. Application of the 3-vessel view in routine prenatal sonographic screening for congenital heart disease. J Ultrasound Med 2009; 28: 1319–1324.Google Scholar
60.Hornberger, LK, Need, L, Benacerraf, BR. Development of significant left and right ventricular hypoplasia in the second and third trimester fetus. J Ultrasound Med 1996; 15: 655–659.Google Scholar
61.Matsui, H, Mellander, M, Roughton, M, Jicinska, H, Gardiner, HM. Morphological and physiological predictors of fetal aortic coarctation. Circulation 2008; 118: 1793–1801.Google Scholar
62.Sharland, GK, Chan, KY, Allan, LD. Coarctation of the aorta: difficulties in prenatal diagnosis. Br Heart J. 1994; 71: 70–75.Google Scholar
63.Roberts, D. Opinion. How best to improve antenatal detection of congenital heart defects. Ultrasound Obstet Gynecol 2008; 32: 846–848.Google Scholar
64.DeVore, GR. The aortic and pulmonary outflow tract screening in the human fetus. J Ultrasound Med 1992; 11: 345–348.Google Scholar
65.Hunter, S, Heads, A, Wyllie, J, Robson, S. Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstretic ultrasonographers. Heart 2000; 84: 294–298.Google Scholar
66.Barboza, JM, Dajani, NK, Glenn, LG, Angtuaco, TL. Prenatal diagnosis of congenital cardiac anomalies: a practical approach using two basic views. Radiographics 2002; 22: 1125–1137.Google Scholar
67.Paladini, D, Sglavo, G, Greco, E, Nappi, C. Cardiac screening bij STIC; can sonologists performing 20- week anomaly scans pick-up outflow tract abnormalities by scrolling the A-plane of STIC volumes? Ultrasound Obstet Gynecol 2008; 32: 865–870.Google Scholar
68.Yoo, SJ, Lee, YH, Kim, ES, et al. The three vessel view of the fetal upper mediastinum: an easy means of detecting abnormalities of the ventricular outflow tracts and great arteries during obstetric screening. Ultrasound Obstet Gynecol 1997; 9: 173–182.Google Scholar
69.Yagel, S, Arbel, R, Anteby, EY, Raveh, D, Achiron, D, Achiron, R. The three vessel and trachea view (3VT) in fetal cardiac scanning. Ultrasound Obstet Gynecol 2002; 20: 340–345.Google Scholar
70.Vinals, F, Heredia, F, Giuliano, A. The role of the three vessel and trachea view (3VT) in the diagnosis of of congenital heart defects. Ultrasound Obstet Gynecol 2003; 22: 358–367.Google Scholar
71.Tongsong, T, Tongprasert, F, Srisupundit, K, Luewan, S. The complete three-vessel view in prenatal detection of congenital heart defects. Prenat Diagn 2010; 30: 23–29.Google Scholar
72.Cargill, Y, Morin, L, Bly, S, et al. Content of a complete routine second trimester obsterical examination and report. J Obstet Gynecol Can 2009; 31: 272–275.Google Scholar
73. Haak MC, Pajkrt E for the echoscopic workgroup of the Dutch Association of Obsterics and Gynecology. Modelprotocol structureel echoscopisch onderzoek 2012”, second version dated 3/7/2012. Retrieved from www.nvog.nl [Dutch].Google Scholar
74.DeVore, GR, Falkensammer, P, Sklansky, MS, Platt, LD. Spatiotemporal image correlation (STIC): new technology for evaluation of the fetal heart. Ultrasound Obstet Gynecol 2003; 22: 380–387.Google Scholar
75.Vinals, F, Poblete, P, Giuliano, A. Spatio-temporal image correlation (STIC); a new tool for the prenatal screening of congenital heart defects. Ultrasound Obstet Gynecol 2003; 22: 388–394.Google Scholar
76.Jelliffe-Pawlowski, L, Baer, R, Moon-Grady, AJ, Carrier, RJ. Second trimester serum predictors of congenital heart defects in pregnancies without chromosomal or neural tube defects. Prenat Diagn 2011; 31: 466–472.Google Scholar
77.Mogra, R, Alabbad, N, Hyett, J. Increased nuchal translucency and congenital heart disease. Early Hum Dev 2012; 88: 261–267.Google Scholar
78.Clur, SA, Mathijssen, IB, Pajkrt, E, et al. Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre. Prenat Diagn 2008; 28: 347–354.Google Scholar
79.Clur, SA, Ottenkamp, J, Bilardo, CM. The nuchal translucency and the fetal heart: a literature review. Prenat Diagn 2009; 29: 739–748.Google Scholar
80.Timmerman, E, Clur, SA, Paijkrt, E, Bilardo, CM. First trimester measurement of the ductus venosus pulsatility index and the prediction of congenital heart defects. Ultrasound Obstet Gynecol 2010; 36: 668–675.Google Scholar
81.Bilardo, CM, Muller, MA, Zikulnig, L, Schipper, M, Hecher, K. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 2001; 17: 288–294.Google Scholar
82.Sairam, S, Carvalho, JS. Early fetal echocardiography and anomaly scan in fetuses with increased nuchal translucency. Early Hum Dev 2012; 88: 269–272.Google Scholar
83.Bilardo, CM, Muller, MA, Pajikrt, E, Clur, SA, van Zalen, MM, Bijlsma, EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 2007; 30: 11–18.Google Scholar
Figure 0

Figure 1 Five screening views used to evaluate the foetal heart. (a) The four-chamber view, (b) left ventricular outflow tract (LVOT) view, (c) right ventricular outflow tract (RVOT) view, (d) three-vessel view, and (e) laterality view. Ao=aorta; DA=arterial duct; LA=left atrium; LV=left ventricle; PA=pulmonary artery; RA=right atrium; SVC=superior vena cava.