Screening for Congenital Heart Disease: A Move toward Earlier Echocardiography

ABSTRACT

Fetal echocardiography remains the mainstay for diagnosis in those pregnancies identified to be at risk for congenital heart disease (CHD). Prenatal diagnosis of CHD remains essential to provide families with thorough pregnancy options as well as allow for transfer to facilities experienced in the management of pediatric cardiac disease in cases of ongoing pregnancy. First-trimester and early second-trimester fetal echocardiography is now feasible and will be increasingly in demand as enlarged nuchal translucency and first-trimester cystic hygroma are becoming common indications for early fetal echocardiography. Although the reported performance characteristics of early fetal echocardiography are good, the technique should be viewed as an adjunct to mid-trimester echocardiography, with its biggest benefit likely to be the ability to provide earlier reassurance to couples at risk for CHD. Early fetal echocardiograms should be reserved for patients at risk for CHD and be performed in centers experienced in this technique.

KEYWORDS

Fetal echocardiography - congenital heart disease - fetal heart - prenatal diagnosis - nuchal translucency

REFERENCES

• 1 Buskens E, Steyerberg E W, Hess J, Wladimiroff J W, Grobbee D E. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach.  Am J Public Health. 1997;  87 962-967
• 2 Hoffman J I, Kaplan S. The incidence of congenital heart disease.  J Am Coll Cardiol. 2002;  39 1890-1900
• 3 Montana E, Khoury M J, Cragan J D, 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, 1990-1993.  J Am Coll Cardiol. 1996;  28 1805-1809
• 4 Abu-Harb M, Hey E, Wren C. Death in infancy from unrecognized congenital heart disease.  Arch Dis Child. 1994;  71 3-7
• 5 Hoffman J I, Christian R. Congenital heart disease in a cohort of 19,502 births with long-term follow up.  Am J Cardiol. 1978;  42 641-647
• 6 Crawford D C, Chita S K, Allan L D. Prenatal detection of congenital heart disease: factors affecting obstetric management and survival.  Am J Obstet Gynecol. 1988;  159 352-356
• 7 Sharland G K, Lockhart S M, Chita S K, Allan L D. Factors influencing the outcome of congenital heart disease detected prenatally.  Arch Dis Child. 1991;  66 284-287
• 8 Vergani P, Mariani S, Ghidini A et al.. Screening for congenital heart disease with four-chamber view of the fetal heart.  Am J Obstet Gynecol. 1992;  167 1000-1003
• 9 Davis G K, Farquhar C M, Allan L D, Crawford D C, Chapman M G. Structural cardiac abnormalities in the fetus: reliability of prenatal diagnosis and outcome.  Br J Obstet Gynaecol. 1990;  97 27-31
• 10 Smythe J F, Copel J A, Kleinman C S. Outcome of prenatally detected cardiac malformations.  Am J Cardiol. 1992;  69 1471-1474
• 11 Bonnet D, Coltri A, Butera G et al.. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality.  Circulation. 1999;  99 916-918
• 12 Chang A C, Huhta J C, Yoon G Y et al.. Diagnosis, transport and outcome of fetuses with left ventricular outflow tract obstruction.  J Thorac Cardiovasc Surg. 1991;  102 841-848
• 13 Cheitlein M D, Alpert J S, Armstrong W F et al.. ACC/AHA Guidelines for the clinical application of echocardiography.  J Am Coll Cardiol. 1997;  95 1686-1744
• 14 Allan L D. Fetal echocardiography.  Clin Obstet Gynecol. 1988;  31 61-79
• 15 Small M, Copel J A. Indications for fetal echocardiography.  Pediatr Cardiol. 2004;  25 210-222
• 16 Wapner R, Thom E, Simpson J L et al.. First trimester maternal serum biochemistry and fetal nuchal translucency screening (BUN) study group.  N Engl J Med. 2003;  349 1405-1413
• 17 Malone F D, Canick J A, Ball R H et al.. First-trimester or second-trimester screening, or both, for Down's syndrome.  N Engl J Med. 2005;  353 2001-2011
• 18 Nicolaides K H, Spencer K, Avqidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75,821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening.  Ultrasound Obstet Gynecol. 2005;  25 221-226
• 19 Cleary-Goldman J, Morgan M A, Malone F D, Robinson J N, D'Alton M E, Schulkin J. Screening for Down's syndrome: practice patterns and knowledge of obstetricians and gynecologists.  Obstet Gynecol. 2006;  107 11-17
• 20 Hyett J, Moscoso G, Papapanagiotu G, Perdu M, Nicolaides K. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11-13 weeks gestation.  Ultrasound Obstet Gynecol. 1996;  7 245-250
• 21 Hyett J A, Perdu M, Sarland G K, Snijders R JM, Nicolaides K H. Increased nuchal translucency at 10-14 weeks of gestation as a marker for major cardiac defects.  Ultrasound Obstet Gynecol. 1997;  10 242-246
• 22 Mavrides E, Cobian-Sanchez F, Tekay A et al.. Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects.  Ultrasound Obstet Gynecol. 2001;  17(2) 106-110
• 23 Zosmer N, Souter V L, Chan C SY, Huggon I, Nicolaides K. Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency.  Br J Obstet Gynaecol. 1999;  106 829-833
• 24 Schwarzler P, Carvalho J S, Senat M V, Masroor T, Campbell S, Ville Y. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population.  Br J Obstet Gynaecol. 1999;  106 1029-1034
• 25 Michailidis G D, Economides D L. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses.  Ultrasound Obstet Gynecol. 2001;  17 102-105
• 26 Simpson L L, Malone F D, Bianchi D W et al.. Nuchal translucency and the risk of congenital heart disease.  Obstet Gynecol. 2007;  109 376-383
• 27 Bahado-Singh R O, Wapner R, Thom E et al.. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.  Am J Obstet Gynecol. 2005;  192 1357-1361
• 28 Malone F D, Ball R H, Nyberg D A et al.. First-trimester septated cystic hygroma: prevalence, natural history and pediatric outcome.  Obstet Gynecol. 2005;  106 288-294
• 29 Manning N, Archer N. A study to determine the incidence of structural congenital heart disease in monochorionic twins.  Prenat Diagn. 2006;  26 1062-1064
• 30 Harkness U F, Crombleholme T M. Twin-twin transfusion syndrome: where do we go from here?.  Semin Perinatol. 2005;  29 296-304
• 31 2003: Assisted Reproductive Technology Success Rates. Published in 2005 by Centers for Disease Control http://Available online at: www.cdc.gov/ART/ART2003 Accessed 9/3/07
• 32 Hansen M, Bower C, Milne E, de Klerk N, Kurinczuk J J. Assisted reproductive technologies and the risks of birth defects-a systematic review.  Hum Reprod. 2005;  20 329-333
• 33 SSRI antidepressants and birth defects.  Prescrire Int. 2006;  15 222-223
• 34 Kulin N A, Pastuszak A, Sage S R et al.. Pregnancy outcome following maternal use of the new selective serotonin reuptake inhibitors: a prospective controlled multicenter study.  JAMA. 1998;  279 609-610
• 35 Wogelius P, Norgaard M, Gislum M et al.. Maternal use of selective serotonin reuptake inhibitors and risk of congenital malformations.  Epidemiology. 2006;  17 701-704
• 36 Thormahlen G M. Paroxetine use during pregnancy: is it safe?.  Ann Pharmacother. 2006;  40 1834-1837
• 37 U.S. Food and Drug Administration: FDA public health advisory: paroxetine, 12/8/05.  http://Available at: www.fda.gov/cder/drug/advisory/paroxetine200512.htm Accessed May 7, 2007; 
• 38 Bérard A, Ramos É, Rey É, Blais L, St.-André , Oraichi D. First trimester exposure to paroxetine and risk of cardiac malformations in infants: the importance of dosage.  Birth Defects Res B Dev Reprod Toxical. 2007;  80 18-27
• 39 Kapusta L, Haagmans M LM, Steegers E AP, Cuypers M HM, Blom H J, Eskes T KAB. Congenital heart defects and maternal derangement of homocysteine metabolism.  J Pediatr. 1999;  135 773-774
• 40 Wenstrom K D, Johanning G L, Johnston K E, DuBard M. Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations.  Am J Obstet Gynecol. 2001;  184 806-817
• 41 Junker R, Kotthoff S, Vielhaber H et al.. Infant methylenetetrahydrofolate reductase 677T genotype is a risk factor for congenital heart disease.  Cardiovasc Res. 2001;  51 251-254
• 42 American Society of Echocardiography . Guidelines and standards for performance of the fetal echocardiogram.  J Am Soc Echocardiogr. 2004;  17 803-810
• 43 Allan L. Technique of fetal echocardiography.  Pediatr Cardiol. 2004;  25 223-233
• 44 Simpson J. Echocardiographic evaluation of cardiac function in the fetus.  Prenat Diagn. 2004;  24 1081-1091
• 45 Haak M C, Twisk J WR, Van Vugt J MG. How successful is fetal echocardiographic examination in the first trimester of pregnancy?.  Ultrasound Obstet Gynecol. 2002;  20 9-13
• 46 Souka A P, Pilalis A, Kavalakis Y, Kosmas Y, Antsaklis P, Antsaklis A. Assessment of fetal anatomy at the 11-14 week ultrasound examination.  Ultrasound Obstet Gynecol. 2004;  24 730-734
• 47 Vimpelli T, Huhtala H, Acharya G. Fetal echocardiography during routine first-trimester screening: a feasibility study in an unselected population.  Prenat Diagn. 2006;  26 475-482
• 48 Smrcek J M, Berg C, Geipel A, Fimmers R, Diedrich K, Gembruch U. Early fetal echocardiography: Heart biometry and visualization of cardiac structures between 10 and 15 weeks' gestation.  J Ultrasound Med. 2006;  25 173-182
• 49 Becker R, Wegner R D. Detailed screening for fetal anomalies and cardiac defects at the 11-13 week scan.  Ultrasound Obstet Gynecol. 2006;  27 613-618
• 50 Carvalho J S, Moscoso G, Tekay A, Campbell S, Thiloganatham B, Shinebourne E A. Clinical impact of first and early second trimester fetal echocardiography on high risk pregnancies.  Heart. 2004;  90 921-926
• 51 Gabriel C C, Galindo A, Martinez J M et al.. Early prenatal diagnosis of major cardiac anomalies in a high risk population screening.  Prenat Diagn. 2002;  22 586-593
• 52 Gembruch U, Knopfle G, Bald R, Hansmann M. Early diagnosis of fetal congenital heart disease by transvaginal echocardiography.  Ultrasound Obstet Gynecol. 1993;  3 310-317
• 53 Huggon I C, Ghi T, Cook A C, Zosmer N, Allan L D, Nicolaides K H. Fetal cardiac abnormalities identified prior to 14 weeks' gestation.  Ultrasound Obstet Gynecol. 2002;  20 22-29
• 54 McAuliffe F M, Trines J, Nield L E, Chitayat D, Jaeggi E, Hornberger L K. Early fetal echocardiography-a reliable prenatal diagnosis tool.  Am J Obstet Gynecol. 2005;  193 1253-1259
• 55 Smrcek J M, Berg C, Geipel A et al.. Detection rate of early fetal echocardiography and in utero development of congenital heart defect.  J Ultrasound Med. 2006;  25 187-196
• 56 Weiner Z, Lorber A, Shalev E. Diagnosis of congenital cardiac defects between 11 and 14 weeks' gestation in high-risk patients.  J Ultrasound Med. 2002;  21 23-29