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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: [email protected]
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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
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 

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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