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Screening for heart defects in the first trimester






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Screening for heart defects in the first trimester Screening for heart defects in the first trimester Document Transcript

  • Ultrasound Obstet Gynecol 2010; 36: 658–660Published online in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8874OpinionScreening for heart defects in the first trimester of pregnancy: food for thoughtI would like to start this Opinion by exercising the rights (one unbalanced, one associated with isomerism) and oneof a chairperson and going beyond the Editor-in-Chief’s with tetralogy of Fallot.request for me to comment on two papers in this issue The conclusion that followed was an obvious one: it isof the Journal that deal with the fetal heart in the first possible to measure the cardiac axis in early pregnancytrimester of pregnancy1,2 . I do so in order to acknowledge and this may help to identify pregnancies at risk ofProfessor Yves Ville’s immense support for me to perform CHD. But, in the context of screening, is it really thatearly fetal echocardiography when we worked together simple or do we have some ‘food for thought’ here?many years ago3 , as well as to recognize his early vision Whilst the authors report that the four-chamber viewabout the importance of performing (transabdominal) was imaged in all cases, it is of note that women withfirst-trimester cardiac scans in high-risk pregnancies, at a a body mass index (BMI) ≥ 30 were excluded from thetime when this was not common practice, but innovative. study and nearly one in five cases (19%) required aTo stress his enthusiasm in this important area of fetal combined transabdominal–transvaginal approach. Thus,medicine is for me a ‘must do’ in this Opinion, but it is for screening purposes, it may be somewhat premature toalso a pleasure to write about first-trimester cardiac scans extrapolate the findings of this study to a large low-riskin Yves’s last issue as Editor-in-Chief of Ultrasound in population that includes women with BMI ≥ 30 and inObstetrics & Gynecology. an environment where it may be less practical to perform I should also acknowledge that highly-skilled obstetri- transvaginal scans in nearly a fifth of cases. Previouscians have been performing (transvaginal) first-trimester investigators have shown high BMI and small fetal size tofetal echo since the beginning of the 1990s4 – 15 , before have a negative impact on success rates of first-trimestercardiologists became interested in the fetal heart in early scans16,17 . Timmerman and colleagues2 , on the other hand, aimedpregnancy. However, use of the transabdominal route for at refining risk assessment to improve prediction of CHDearly scans3 and the ever improving ultrasound resolution over and above that associated with an increased nuchalover the years has not only made it possible for cardiolo- translucency thickness (NT) in chromosomally normalgists to explore the small first-trimester fetal heart but has fetuses. In a retrospective study of nearly 800 fetuses, theyalso paved the way for sonographers, radiographers and explored the added predictive value of an abnormal ductusother professionals to incorporate basic cardiac views into venosus pulsatility index (DV-PIV, above the 95th centile)the routine 11 to 13 + 6-week scan. This has obviously and abnormal a-wave (consistently absent or reversed).shifted interest in early fetal echo from accurate diagnosis Cardiac defects were present in 35 fetuses, 26 with majorto screening low-risk pregnancies. forms of CHD. An abnormal DV-PIV in the context of ‘Business as usual’ – I must now return to my task and increased NT and normal karyotype conferred a three-comment on the two papers in this issue of the Journal. fold increase in risk whereas an abnormal a-wave did notThe studies of Sinkovskaya et al.1 and Timmerman et al.2 add to the prediction following correction for DV-PIV.are both concerned with screening for major congenital The sensitivity and specificity of DV-PIV for major CHDheart disease (CHD) in early pregnancy. Yet they explore were 71% and 61%, respectively. While this approachdifferent aspects of screening. is important to streamline referrals so that the limited Sinkovskaya and colleagues1 measured the cardiac axis resources (in this case, availability of diagnostic earlyon the four-chamber view in a prospective study of 100 fetal echocardiography) can be allocated to those familiesconsecutive women scanned at 11 + 0 to 14 + 6 weeks of who are at the highest risk, obtaining a technically goodgestation. Additionally, the outflow tracts were imaged DV Doppler signal may not be so straightforward18 ,and targeted fetal echocardiography was performed later bringing into question its widespread use for screeningin the second trimester. In early pregnancy, the mean low-risk pregnancies. Factors such as the learning curve19 ,value for the cardiac axis, based on 94 fetuses with no observer variability and reproducibility of the signal20 – 22cardiac abnormalities, was approximately 47◦ with limits may have a negative impact on its potential utility as aof normality set between 35◦ and 60◦ . The four-chamber method of screening for CHD worldwide, as highlightedview was seen in all cases and there was good interobserver by the authors.reproducibility. An abnormal axis was seen in four of the This study also offers more food for thought in that,six cases with CHD (of which three showed a structurally of all cases of CHD which had fetal cardiac scansabnormal four-chamber view): one with hypoplastic left and required postnatal intervention, half were false-heart syndrome, two with atrioventricular septal defects negative cases. Excluding those with a patent arterialCopyright  2010 ISUOG. Published by John Wiley & Sons, Ltd. OPINION
  • Opinion 659duct and a secundum atrial septal defect, 12 children To conclude, identifying cases at risk of CHD in thehad cardiac intervention and six were thought to have first and early second trimesters of pregnancy poses‘no anomalies’ on fetal scans2 . The reasons behind this two important questions: how soon can early fetalfinding are unclear. While it is well known that certain echocardiography be offered to families so that thecardiac defects evolve during pregnancy and may not be diagnosis of normality or abnormality can be made, andamenable to diagnosis prenatally23 , an abnormality of how accurately can this be achieved?the atrioventricular connection such as tricuspid atresiacan (and should?) indeed be diagnosed if a cardiac J. S. Carvalhoscan is performed. In one additional case, the diagnosis Fetal & Paediatric Cardiology, Royal Brompton &of atrioventricular and ventriculoarterial discordance St George’s Hospitals and Fetal Cardiology, St George’swas made postnatally. The ISUOG consensus statement University of London, London, UKregarding ‘What constitutes a fetal echocardiogram’24 (e-mail: j.carvalho@rbht.nhs.uk)reflects the need for a multidisciplinary approach to fetalcardiac scans, which should involve cardiologists and REFERENCESobstetricians alike. Of relevance to both these studies and of utmost 1. Sinkovskaya E, Horton S, Berkley EM, Cooper JK, Indika SS, Abuhamad A. Defining the fetal cardiac axis between 11 + 0importance to early screening for CHD in general and 14 + 6 weeks of gestation: experience with 100 consecutiveis: how soon after identifying markers in the general pregnancies. Ultrasound Obstet Gynecol 2010; 36: 676–681.population, prior to 14 weeks of gestation, are we 2. Timmerman E, Clur SA, Pajkrt E, Bilardo CM. First-trimesterable to refer the pregnant woman for diagnostic fetal measurement of the ductus venosus pulsatility index andechocardiography? This question goes beyond the studies the prediction of congenital heart defects. Ultrasound Obstet Gynecol 2010; 36: 668–675.of Sinkovskaya et al.1 and Timmerman et al.2 as it applies 3. Carvalho JS, Moscoso G, Ville Y. First-trimester transabdomi-to all potential early markers of CHD (abnormal cardiac nal fetal echocardiography. Lancet 1998; 351: 1023–1027.axis, increased NT, abnormal DV, tricuspid regurgitation 4. Bronshtein M, Siegler E, Yoffe N, Zimmer EZ. Prenatal diagno-and even aberrant subclavian artery25,26 ). Following sis of ventricular septal defect and overriding aorta at 14 weeks’a suspected cardiac abnormality in mid-gestation, the gestation, using transvaginal sonography. Prenat Diagn 1990; 10: 697–702.accepted recommendation in the UK is that the pregnant 5. Gembruch U, Knopfle G, Chatterjee M, Bald R, Hansmann M.woman be offered an appointment as soon as possible, First-trimester diagnosis of fetal congenital heart disease bybut preferably within a week. transvaginal two-dimensional and Doppler echocardiography. An unexpected abnormal ultrasound finding leads to Obstet Gynecol 1990; 75: 496–498.parental anxiety, vacillation between emotional confusion 6. Dolkart LA, Reimers FT. Transvaginal fetal echocardiography in early pregnancy: normative data. Am J Obstet Gynecol 1991;and sense of reality. Parents adapt but they need 165: 688–691.additional information about diagnosis and treatment 7. D’Amelio R, Giorlandino C, Masala L, Garofalo M, Mar-without delay27 . The magnitude of such anxiety may tinelli M, Anelli G, Zichella L. Fetal echocardiography usingbe difficult to measure but is potentially devastating for transvaginal and transabdominal probes during the first periodsome families. When the abnormality at stake in the first of pregnancy: a comparative study. Prenat Diagn 1991; 11: 69–75.trimester is a chromosomal defect, resolving the issue may 8. Bronshtein M, Zimmer EZ, Milo S, Ho SY, Lorber A, Gerlis LM.be relatively easy (albeit with a small risk of miscarriage Fetal cardiac abnormalities detected by transvaginal sonographythrough invasive procedures), but definition of the cardiac at 12–16 weeks’ gestation. Obstet Gynecol 1991; 78: 374–378.anatomy accurately in the first or early second trimester 9. Bronshtein M, Siegler E, Eshcoli Z, Zimmer EZ. Transvaginalwhen major CHD is suspected, or following identification ultrasound measurements of the fetal heart at 11 to 17 weeks of gestation. Am J Perinatol 1992; 9: 38–42.of a high-risk pregnancy, is certainly not widely available. 10. Johnson P, Sharland G, Maxwell D, Allan L. The role ofFor many women, therefore, identifying the risk early but transvaginal sonography in the early detection of congenitalhaving to wait until the 20-week scan may be associated heart disease. Ultrasound Obstet Gynecol 1992; 2: 248–251.with a period of excessive stress. Rosenberg et al.28 found, 11. Bronshtein M, Zimmer EZ, Gerlis LM, Lorber A, Drugan A.after controlling for race and maternal age, that referral Early ultrasound diagnosis of fetal congenital heart defects in high-risk and low-risk pregnancies. Obstet Gynecol 1993; 82:for fetal echocardiography was an independent predictor 225–229.of maternal ‘state anxiety’, i.e. how patients feel at the 12. Gembruch U, Knopfle G, Bald R, Hansmann M. Early diagnosistime of the scan. of fetal congenital heart disease by transvaginal echocardiogra- Revealing to parents that the fetal heart shows an phy. Ultrasound Obstet Gynecol 1993; 3: 310–317.abnormality is likely to raise maternal and family anxiety 13. Homola J, Satrapa V. 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  • 660 Carvalho16. Huggon IC, Ghi T, Cook AC, Zosmer N, Allan LD, Nicolaides 23. Yagel S, Weissman A, Rotstein Z, Manor M, Hegesh J, KH. Fetal cardiac abnormalities identified prior to 14 weeks’ Anteby E, Lipitz S, Achiron R. Congenital heart defects: gestation. Ultrasound Obstet Gynecol 2002; 20: 22–29. natural course and in utero development. Circulation 1997;17. Haak MC, Twisk JW, Van Vugt JM. How successful is 96: 550–555. fetal echocardiographic examination in the first trimester of 24. Lee W, Allan L, Carvalho JS, Chaoui R, Copel J, Devore G, pregnancy? Ultrasound Obstet Gynecol 2002; 20: 9–13. Hecher K, Munoz H, Nelson T, Paladini D, Yagel S; ISUOG18. Carvalho JS. Nuchal translucency, ductus venosus and congen- Fetal Echocardiography Task Force. ISUOG consensus state- ital heart disease: an important association–a cautious analysis. ment: what constitutes a fetal echocardiogram? Ultrasound Ultrasound Obstet Gynecol 1999; 14: 302–306. Obstet Gynecol 2008; 32: 239–242.19. Maiz N, Kagan KO, Milovanovic Z, Celik E, Nicolaides KH. 25. Zapata H, Edwards JE, Titus JL. Aberrant right subclavian Learning curve for Doppler assessment of ductus venosus flow at artery with left aortic arch: associated cardiac anomalies. Pediatr 11 + 0 to 13 + 6 weeks’ gestation. Ultrasound Obstet Gynecol Cardiol 1993; 14: 159–161. 2008; 31: 503–506. 26. Ramaswamy P, Lytrivi ID, Thanjan MT, Nguyen T, Srivas-20. Borrell A, Perez M, Figueras F, Meler E, Gonce A, Grata- tava S, Sharma S, Ko HH, Parness IA, Lai WW. Frequency of cos E. Reliability analysis on ductus venosus assessment at aberrant subclavian artery, arch laterality, and associated intrac- 11–14 weeks’ gestation in a high-risk population. Prenat Diagn ardiac anomalies detected by echocardiography. Am J Cardiol 2007; 27: 442–446. 2008; 101: 677–682.21. Mavrides E, Holden D, Bland JM, Tekay A, Thilaganathan B. 27. Larsson AK, Svalenius EC, Marsal K, Ekelin M, Nyberg P, Intraobserver and interobserver variability of transabdominal Dykes AK. Parents’ worried state of mind when fetal ultrasound Doppler velocimetry measurements of the fetal ductus venosus shows an unexpected finding: a comparative study. J Ultrasound between 10 and 14 weeks of gestation. Ultrasound Obstet Med 2009; 28: 1663–1670. Gynecol 2001; 17: 306–310. 28. Rosenberg KB, Monk C, Glickstein JS, Levasseur SM, Simp-22. Prefumo F, De Biasio P, Venturini PL. Reproducibility of ductus son LL, Kleinman CS, Williams IA. Referral for fetal echocar- venosus Doppler flow measurements at 11–14 weeks of diography is associated with increased maternal anxiety. gestation. Ultrasound Obstet Gynecol 2001; 17: 301–305. J Psychosom Obstet Gynaecol 2010; 31: 60–69.Copyright  2010 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2010; 36: 658–660. View slide