Abstract
The objective of this study is to evaluate if the diagnosis of a complex congenital heart disease (CHD) was missed in a patient with Down syndrome (DS) who had a fetal echocardiogram that was read as normal. Secondary goal of this study was to determine if any CHD was missed postnatally when a fetal echocardiogram was read as normal. A retrospective chart review of children with DS at Nationwide Children’s Hospital whose birthdates were between 1/1/2010 and 12/31/2017 was performed. Patients were included if they had a fetal echocardiogram that was read as normal and also had a postnatal echocardiogram performed. One hundred twenty fetal echocardiograms on patients with DS were performed, of which 45 patients met the inclusion criteria. No patient was diagnosed with a complex CHD postnatally, with a negative predictive value = 100%. Thirteen patients were diagnosed with CHD postnatally, with a negative predictive value of 71.1%. All 13 patients had either a murmur (11) or an abnormal EKG (9). One patient died at 8 days of life due to pulmonary hypertension complications. Five patients had resolution of their CHD, 2 patients have near resolution, 2 patients are being followed for their atrial septal defects and 3 underwent intervention (septum primum surgical repair = 1, PDA catheter occlusion = 2). Complex CHD was not missed on any fetal echocardiograms performed on patients with DS. All the other patients who had CHD diagnosed postnatally had an abnormal finding on evaluation. Further studies evaluating echocardiographic imaging recommendations are needed to maximize care in this patient population.
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Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS et al (2006) National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001. Birth Defects Res A 76(11):747–756
de Graaf G, Buckley F, Skotko BG (2015) Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A 167A(4):756–767
Cua CL, Blankenship A, North AL, Hayes J, Nelin LD (2007) Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatric Cardiol 28(4):250–254
Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ et al (1998) Population-based study of congenital heart defects in down syndrome. Am J Med Genet 80(3):213–217
Freeman SB, Torfs CP, Romitti PA, Royle MH, Druschel C, Hobbs CA et al (2009) Congenital gastrointestinal defects in down syndrome: a report from the Atlanta and National Down syndrome projects. Clin Genet 75(2):180–184
Weijerman ME, van Furth AM, van der Mooren MD, van Weissenbruch MM, Rammeloo L, Broers CJ et al (2010) Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur J Pediatr 169(10):1195–1199
Zachor DA, Mroczek-Musulman E, Brown P (2000) Prevalence of celiac disease in Down syndrome in the United States. J Pediatr Gastroenterol Nutr 31(3):275–279
Cua CL, Rogers LK, Chicoine LG, Augustine M, Jin Y, Nash PL et al (2011) Down syndrome patients with pulmonary hypertension have elevated plasma levels of asymmetric dimethylarginine. Eur J Pediatr 170(7):859–863
Fudge JC Jr, Li S, Jaggers J, O'Brien SM, Peterson ED, Jacobs JP et al (2010) Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database. Pediatrics 126(2):315–322
Goldman SE, Urbano RC, Hodapp RM (2011) Determining the amount, timing and causes of mortality among infants with Down syndrome. J Intellect Disabil Res 55(1):85–94
Cua CL, Haque U, Santoro S, Nicholson L, Backes CH (2017) Differences in mortality characteristics in neonates with Down's syndrome. J Perinatol 37(4):427–431
Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A et al (2014) Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation 129(21):2183–2242
Bull MJ, Genetics C (2011) Clinical report-health supervision for children with Down syndrome. Pediatrics 128(2):393–406
Campbell RM, Douglas PS, Eidem BW, Lai WW, Lopez L, Sachdeva R (2014) ACC/AAP/AHA/ASE/HRS/SCAI/SCCT/SCMR/SOPE 2014 appropriate use criteria for initial transthoracic echocardiography in outpatient pediatric cardiology: a report of the American College of Cardiology Appropriate Use Criteria Task Force, American Academy of Pediatrics, American Heart Association, American Society of Echocardiography, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and Society of Pediatric Echocardiography. J Am Coll Cardiol 64(19):2039–2060
Jenkins KJ, Gauvreau K, Newburger JW, Spray TL, Moller JH, Iezzoni LI (2002) Consensus-based method for risk adjustment for surgery for congenital heart disease. J Thorac Cardiovasc Surg 123(1):110–118
Jenkins KJ, Gauvreau K (2002) Center-specific differences in mortality: preliminary analyses using the Risk Adjustment in Congenital Heart Surgery (RACHS-1) method. J Thorac Cardiovasc Surg 124(1):97–104
Bull MJ, Committee on G (2011) Health supervision for children with Down syndrome. Pediatrics. 128(2):393–406.
Achiron R, Glaser J, Gelernter I, Hegesh J, Yagel S (1992) Extended fetal echocardiographic examination for detecting cardiac malformations in low risk pregnancies. BMJ 304(6828):671–674
Anandakumar C, Nuruddin Badruddin M, Chua TM, Wong YC, Chia D (2002) First-trimester prenatal diagnosis of omphalocele using three-dimensional ultrasonography. Ultrasound Obstet Gynecol 20(6):635–636
Hafner E, Scholler J, Schuchter K, Sterniste W, Philipp K (1998) Detection of fetal congenital heart disease in a low-risk population. Prenat Diagn 18(8):808–815
Rustico MA, Benettoni A, D'Ottavio G, Maieron A, Fischer-Tamaro I, Conoscenti G et al (1995) Fetal heart screening in low-risk pregnancies. Ultrasound Obstet Gynecol 6(5):313–319
Stumpflen I, Stumpflen A, Wimmer M, Bernaschek G (1996) Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease. Lancet 348(9031):854–857
Quartermain MD, Pasquali SK, Hill KD, Goldberg DJ, Huhta JC, Jacobs JP et al (2015) Variation in prenatal diagnosis of congenital heart disease in infants. Pediatrics 136(2):e378–e385
Li Y, Hua Y, Fang J, Wang C, Qiao L, Wan C et al (2013) Performance of different scan protocols of fetal echocardiography in the diagnosis of fetal congenital heart disease: a systematic review and meta-analysis. PLoS ONE 8(6):e65484
Evans JM, Dharmar M, Meierhenry E, Marcin JP, Raff GW (2014) Association between Down syndrome and in-hospital death among children undergoing surgery for congenital heart disease: a US population-based study. Circ Cardiovasc Qual Outcomes 7(3):445–452
Bogarapu S, Pinto NM, Etheridge SP, Sheng X, Liesemer KN, Young PC et al (2016) Screening for congenital heart disease in infants with Down syndrome: is universal echocardiography necessary? Pediatr Cardiol 37(7):1222–1227
McElhinney DB, Straka M, Goldmuntz E, Zackai EH (2002) Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 113(3):238–241
Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC (1991) Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ 302(6790):1425–1427
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Concept: CLC. Design: AC, CHB, MD, CLC. Writing: AC, KS, CB, MD, RS, SLS, CLC. Approval: AC, KS, CHB, MD, RS, SLS, CC.
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Cooper, A., Sisco, K., Backes, C.H. et al. Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms. Pediatr Cardiol 40, 1716–1721 (2019). https://doi.org/10.1007/s00246-019-02209-w
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DOI: https://doi.org/10.1007/s00246-019-02209-w