Screening performance of congenital heart defects in first trimester using simple cardiac scan, nuchal translucency, abnormal ductus venosus blood flow and tricuspid regurgitation
Corresponding Author
Natasa Karadzov Orlic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Correspondence
Natasa Karadzov Orlic, Obsterics/Gynecolgy Clinic “Narodni font”, High-risk Pregnancy Unit, School of Medicine, University of Belgrade, Str. Kraljice Natalije 62, Belgrade 11000, Serbia.
Email: [email protected]
Search for more papers by this authorAmira Egic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorBarbara Damnjanovic-Pazin MD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, Belgrade, Serbia
Search for more papers by this authorRelja Lukic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorIvana Joksic MD, PhD
Genetic Laboratory, Obsterics/Gynecolgy Clinic “Narodni font”, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorZeljko Mikovic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorCorresponding Author
Natasa Karadzov Orlic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Correspondence
Natasa Karadzov Orlic, Obsterics/Gynecolgy Clinic “Narodni font”, High-risk Pregnancy Unit, School of Medicine, University of Belgrade, Str. Kraljice Natalije 62, Belgrade 11000, Serbia.
Email: [email protected]
Search for more papers by this authorAmira Egic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorBarbara Damnjanovic-Pazin MD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, Belgrade, Serbia
Search for more papers by this authorRelja Lukic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorIvana Joksic MD, PhD
Genetic Laboratory, Obsterics/Gynecolgy Clinic “Narodni font”, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorZeljko Mikovic MD, PhD
High-risk Pregnancy Unit, Obsterics/Gynecolgy Clinic “Narodni font”, School of Medicine, University of Belgrade, Belgrade, Serbia
Search for more papers by this authorAbstract
Objective
The objective of this study was to analyze if the addition of simple cardiac scan in cases with increased nuchal translucency (NT) and/or abnormal ductus venosus (DV) blood flow, and/or tricuspid regurgitation (TCR) can improve detection of congenital heart defects (CHD) in chromosomally normal fetuses without non-cardiac defects at 11-13 + 6 gestational weeks in a population of singleton pregnancies.
Methods
During the 10 years period, all singleton pregnancies at 11-13 + 6 weeks were routinely scanned for NT, DV blood flow and TCR assessment and, if a single of these parameters was abnormal, simple cardiac scan with 2D gray scale and color and/or directional power Doppler in 4-chamber (4-CV) and 3 vessel and trachea views (3VTV) was performed.
Results
The sensitivity and specificity of NT ≥ 95th + DV R/A a-wave + TCR in detecting CHD were 77% and 97%, respectively, and of simple cardiac scan, 67% and 98%, respectively. Area under the curve of receiver operating characteristic curve of NT ≥ 95th + DV R/A a-wave + TCR was 0.838, and of NT ≥ 95th + DV R/A a-wave + TCR + simple cardiac scan was 0.915.
Conclusions
In chromosomally normal fetuses without non-cardiac anomalies, addition of simple cardiac scan to the combined first trimester screening parameters improves detection of major CHD during first trimester.
CONFLICT OF INTEREST
The authors declare that they have no conflicts of interest with the contents of this article.
REFERENCES
- 1van der Linde D, Konings EEM, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systemic review and meta-analysis. Am J Cardiol. 2011; 58: 2241-2247.
- 2Ghi T, Huggon IC, Zosmer N, Nicolaides KH. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol. 2001; 18: 610-614.
- 3Sotiriadis A, Papatheodorou S, Elefteriades M, Makrydimas G. Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta-analysis. Ultrasound Obstet Gynecol. 2013; 42: 383-389.
- 4Makrydimas G, Sotiriadis A, Huggon IC, et al. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol. 2005; 192: 89-95.
- 5Matias A, Gomes C, Flack N, Montenegro N, Nicolaides KH. Screening for chromosomal abnormalities at 10-14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gyneco. 1998; 12: 380-384.
- 6Matias A, Huggon I, Areias JC, Montenegro N, Nicolaides KH. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol. 1999; 14: 307-310.
- 7Borrell A. The ductus venosus in early pregnancy and congenital anomalies. Prenat Diagn. 2004; 24: 688-692.
- 8Smrcek JM, Berg C, Geipel A, et al. Detection rate of early fetal echocardiography and in utero development of congenital heart defects. J Ultrasound Med. 2006; 25: 187-196.
- 9Becker R, Wagner RD. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Ultrasound Obstet Gynecol. 2006; 27: 613-618.
- 10Practice I. Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol. 2013; 41: 348-359.
- 11Carvalho JS. Fetal heart scanning in the first trimester. Prenat Diagn. 2004; 24: 1060-1067.
- 12Selvesen K, Abramowicz C, Brezinka C, ter Haar G, Maršál K. Opinion. Safe use of Doppler ultrasound during the 11 to 13 + 6-week scan: is it possible? Ultrasound Obstet Gynecol. 2011; 37: 625-628.
- 13Allan LD, Crawford DC, Chita SK, Tynan MJ. Prenatal screening for congenital heart disease. Br Med J. 1986; 292: 1717-1719.
- 14Spencer K, Spencer CE, Power M. One stop clinic for assessmen Kt of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester. Br J Obstet Gynecol. 2003; 107: 1271-1275.
- 15Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992; 304(6831): 867-869.
- 16Karadzov-Orlic N, Egic A, Milovanovic Z, et al. Improved diagnostic accuracy by using secondary ultrasound markers in the first-trimester screening for trisomies 21, 18 and 13 and Turner syndrome. Prenat Diagn. 2012; 32: 638-643.
- 17Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004; 191: 45-67.
- 18Maiz N, Valencia C, Emmanuel EE, Staboulidou I, Nicolaides KH. Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13+6 weeks of gestation. Obstet Gynecol. 2008; 112: 598-605.
- 19Borrell A, Grande M, Bennasar M, et al. First-trimester detection of major cardiac defects with the use of ductus venosus blood flow. Ultrasound Obstet Gynecol. 2013; 42: 51-57.
- 20Falcon O, Faiola S, Huggon I, Allan L, Nicolaides KH. Fetal tricuspid regurgitation at the 11.0 to 13.6-week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol. 2006; 27: 609-612.
- 21Kagan KO, Valencia C, Livanos P, et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13and Turner syndrome at 11.0-13.6 weeks of gestation. Ultrasound Obstet Gynecol. 2009; 33: 18-22.
- 22Carvalho JS. Screening for heart defects in the first trimester of pregnancy: food for thought. Ultrasound Obstet Gynecol. 2010; 36: 658-660.
- 23Batra M, Gopinathan KK, Balakrishman B, Gopinath P, Kariakose R, Gupta J. The detection rate of cardiac anomalies at 11-13+6 week scan using four chamber view and three vellel view. J Fetal Med. 2016; 1: 95-98.
10.1007/s40556-014-0012-0 Google Scholar
- 24Wiechec M, Knafel A, Nocun A. Prenatal detection of congenital heart defects at the 11- to 13-week scan using a simple Color Doppler protocol including the 4-chamber and 3-vesseland trachea views. J Ultrasound Med. 2015; 34: 585-594.
- 25Quarello E, Lafouge A, Fries N, Salamon LJ, CFEF. Basic heart examination: feasibility study of first-trimester systematic simplified fetal echocardiography. Ultrasound Obstet Gynecol. 2017; 49(2): 224-230.
- 26Sinkovskaya ES, Chaoui R, Karl K, Andreeva E, Zhuchenko L, Abuhamad AZ. Fetal cardiac axis and congenital heart defects in early gestation. Obstet Gynecol. 2015; 125: 453-460.
- 27Allan L, Cook A, Huggon IC. Fetal Echocardiography, A Practical Guide. New York: Cambridge University Press; 2009.
- 28Yoo S-J, Lee Y-H, Kim ES, et al. Three-vessel view of the fetal upper mediastinum: an easy means of detecting abnormalities of the ventricular outflow tracts and great arteries during obstetricscreening. Ultrasound Obstet Gynecol. 1997; 9: 173-182.
- 29 International Society of Ultrasound in Obstetrics & Gynecology. Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan. Ultrasound Obstet Gynecol. 2006; 27: 107-113.
- 30Clur S, VanBrussel PM, Mathijssen IB, et al. Audit of 10 years of referrals for fetal echocardiolography. Prenat Diagn. 2011; 31: 1134-1140.
- 31Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides KH. Contribution of ductus venosus Doppler in first trimester screening for major cardiac defects. Fetal Diagn Ther. 2011; 29: 127-134.
- 32Persico N, Moratalla J, Lombardi CM, Zidere V, Allan L, Nicolaides KH. Fetal echocardiography at 11-13 weeks by transabdominal high-frequency ultrasound. Ultrasound Obstet Gynecol. 2011; 37: 296-301.
- 33Hosmer DW, Lemeshow S. Applied Logistic Regression. 2nd ed. Hoboken, NJ: JohnWiley & Sons Inc.; 2000: 156-164. 20.
- 34Hyett J, Perdu M, Sharland C, et al. Using fetal nuchal translucency to screen for majorcongenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ. 1999; 318: 81-85.
- 35Pereira S, Ganapathy R, Syngelaki A, et al. Contribution of fetal tricuspid regurgitataion in first trimester screening for major cardiac defects. Obstet Gynecol. 2011; 117: 1384-1391.
- 36Khalil A, Nicolaides KH. Fetal heart defect’s: potential and pitfalls of first-trimester detection. Semin Fetal Neonatal Med. 2013; 18: 251-260.
- 37Vimpelli T, Huhtala H, Acharya G. Fetal echocardiography during routine first-trimester screening: a feasibility study in an unselected population. Prenatal Diagn. 2006; 26(5): 475-482.
- 38Eleftheriades M, Tsapakis E, Sotiriadis A, Manolakos E, Hassiakos D, Botsis D. Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities. Fetal and Neonatal Medicine. 2012; 25: 2546-2550.
- 39Volpe P, Ubaldo P, Volpe N, et al. Fetal cardiac evaluation at 11-14 weeks by experienced obstetricians in a low-risk population. Prenat Diagn. 2011; 31: 1054-1061.
- 40DeRobertis V, Rembouskos G, Farelli T, et al. The three-vessel and trahea view(3VTV) in the first trimester of pregnancy: an additional tool in screening for congenital heart defects (CCHD) in an unselected population. Prenat Diagn. 2017; 37: 693-698.
- 41Maiz N, Nicolaides KH. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications. Fetal Diagn Ther. 2010; 28: 65-71.
- 42Timmerman ES, Clur AE, Pajkrt 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.
- 43Zidere V, Bellsham-Revell H, Persico N, Allan LD. Comparison of echocardiographic findings in fetuses at less than 15 weeks' gestation with later cardiac evaluation. Ultrasound Obstet Gynecol. 2013; 42(6): 679-686.
- 44Yagel S, Weissman A, Rotstein Z, et al. Congenital heart defects: natural course and in utero development. Circulation. 1997; 96: 550-555.
- 45Huggon IC, Ghi T, Cook AC, et al. Fetal cardiac abnormalities identified prior to 14 weeks’ gestation. Ultrasound Obstet Gynecol. 2002; 20: 22-29.
- 46Favre R, Cherif Y, Kohler M, et al. The role of fetal nuchal translucency and ductus venosus doppler at 11-14 weeks of gestation in the detection of major congenital heart defects. Ultrasound Obstet Gynecol. 2003; 21: 239-243.
