Journal of Midwifery & Women’s Health
www.jmwh.org
Clinical Rounds
Isolated Intracardiac Echogenic Focus on Routine Ultrasound: Implications for Practice Heather Murphy, CNM, MSN, Julia C. Phillippi, CNM, PhD
Ultrasound is widely used as a screening tool for fetal anomalies. An intracardiac echogenic focus (ICEF) is associated with fetal aneuploidy, particularly trisomy 21, when found with other minor abnormalities known as soft markers. However, when found in isolation, intracardiac echogenic foci are morphologic variations with little or no pathologic significance for the fetus. Ambiguity about the significance of ICEF and other soft markers and the lack of preparation prior to ultrasound can result in unnecessary worry for women and their partners. A variety of tools exist that providers can use to help pregnant women and their partners make informed decisions about ultrasound and fetal screening. c 2015 by the American College of Nurse-Midwives. J Midwifery Womens Health 2015;60:83–88 Keywords: intracardiac echogenic focus, ultrasound, trisomy 21, aneuploidy, soft marker, prenatal screening
CASE REPORT
L.S. is an 18-year-old nulliparous woman (composite case) who presented for care at 10 weeks’ gestation with a certain last menstrual period. She had a noncontributory medical, social, and family history. After discussing all of the options for genetic screening with her midwife, including detection and false-positive rates, L.S. chose to have combined firsttrimester screening and then second-trimester quadruple screening with the integrated screen. The normal results of her screening tests are listed in Tables 1 and 2. In explaining the test results, the midwife discussed with L.S. that her likelihood of having a fetus with aneuploidy was less than 1 in 10,000 and her likelihood of having a fetus with a neural tube defect was 1 in 1100. The midwife used a visual aid to help L.S. and her partner understand the actual chance of these conditions affecting her pregnancy. At 20 weeks, L.S. had an ultrasound for dating and anatomy. The fetus had normal anatomy, with the exception of an intracardiac echogenic focus (ICEF). Immediately following the ultrasound, the midwife met with L.S. and her partner to explain that ICEF usually resolves spontaneously and does not affect heart function, although it has some association with trisomy 21. The midwife explained that the risk of the fetus having trisomy 21 was low based on her individualized risk factors and earlier screening results. The midwife gave the couple written information on ICEF to take home and offered reassurance and support to L.S. and her partner. At the next visit, L.S. and her partner stated that they had been very worried about the fetus because of the ultrasound results. The midwife reassured them that ICEF is considered normal when found in isolation and then discussed their values and options for additional fetal testing to diagnose trisomy 21. After discussion, L.S. stated that she would want to be prepared if her
fetus had trisomy 21 but would not terminate her pregnancy based on diagnostic findings. L.S. and her partner chose to have noninvasive prenatal testing to analyze fetal DNA. The DNA screening suggested that, with near 100% confidence, the fetus was a euploid male. After further screening, the pregnancy progressed normally. L.S. gave birth vaginally to a 7-pound, 11-ounce boy at 41 weeks’ gestation without complications. INTRODUCTION
About 3.5% to 5% of routine, midgestation pregnancy ultrasounds detect ICEF in the fetus.1,2 Although ICEF can be associated with trisomy 21, it has a low sensitivity and specificity and a high false-positive rate for this condition.1–3 In fact, there is disagreement in the literature concerning whether the detection of soft markers such as ICEF is even valuable for the detection of trisomy 21.4–6 The detection of ICEF subsequent to negative fetal-screening results, with nuchal translucency and serum analytes that include free--human chorionic gonadotropin (hCG), alpha-fetaprotein, and pregnancy-associated plasma protein A, can cause concern in women and their partners.5,7 The detection of ICEF increases the number of women opting for invasive tests without providing additional insight into fetal status.5,7,8 These tests have risks, including the miscarriage of a healthy fetus.5,7–10 L.S. was found to be at low risk for having a fetus with trisomy 21 based on her screening results, but she was concerned after the incidental finding of ICEF on a routine ultrasound. The high rate of maternal worry after discovery of ICEF raises concerns about the informed consent process and role of ultrasound as a genetic screening tool.5,7 This article describes the clinical significance of ICEF in women with minimal risk for aneuploidy. INTRACARDIAC ECHOGENIC FOCUS
Address correspondence to Heather Murphy, CNM, MSN, USF Physicians Group, Division of Midwifery, 2 Tampa General Circle, 4th floor, Tampa, FL 33606. E-mail: [email protected]
ICEF is an ultrasound finding of an echogenic bright area in the fetal heart with the same brightness as bone1,11,12 that moves synchronically to the atrioventricular valves13 (Figure 1). The echogenicity probably represents
1526-9523/09/$36.00 doi:10.1111/jmwh.12282
c 2015 by the American College of Nurse-Midwives
83
clinical practice, one usually translates this risk adjustment by doubling the risk from sequential testing by applying a likelihood ratio (LR) of 2 to 2.8.9,17 The risk of L.S. having a fetus with trisomy 21 would change from 1 in 10,000 to 1 in 5000, which is still considered low risk and not an indication for amniocentesis.9 Although ICEF is weakly associated with cardiac abnormalities, it is a poor predictor of long-term cardiac outcomes and function.16 Systolic and diastolic function in 61 fetuses with ICEF were compared with 55 fetuses without ICEF using echocardiographic Doppler imaging of the myocardial tissue, and the isolated ICEF was not associated with cardiac dysfunction.14 The study authors concluded that fetuses with isolated ICEF and no structural or cardiac anomalies did not need fetal echocardiography (ECHO) to assess cardiac function.14 Other studies have found that ICEF does not predict depressed cardiac function in the fetus11 and is not associated with myocardial dysfunction from birth to 24 months of age using fetal ECHO, electrocardiogram, and 24-hour ambulatory Holter monitoring.11,15,16
Table 1. Ultrasound and Maternal Biochemical Analyte Results for L.S.
Marker/Analyte
Value
Percentile
96.61 ng/mL
70
2.12 mIU/mL
60
1.1 mm
25
131.0 ng/mL
–
Free--human chorionic gonadotropin Pregnancy-associated plasma protein A Nuchal translucency Maternal serum alpha-fetoprotein
microcalcifications of the papillary muscles or chordae tendinae.9,14,15 ICEF is present at the midtrimester ultrasound in 3.5% of euploid fetuses and in 15% to 30% of fetuses with trisomy 21.1,2 There can be one or multiple echogenic areas in the heart; they are most commonly found in the left ventricle.14 Although ICEF is more common in fetuses with trisomy 21 than in fetuses without trisomy 21, only about 11 to 15 of every 100 fetuses with an isolated ICEF will have trisomy 21.16,17 Smith-Bindman conducted a meta-analysis of studies that found an association between ICEF and trisomy 21. This analysis found that if ICEF is identified, the odds of trisomy 21 are increased approximately 2.8-fold (or a positive likelihood ratio of 2.8).17 Based on more recent large meta-analyses, the risk of a fetus having trisomy 21 is increased by a factor of 5.4 to 6.2 when an isolated ICEF is present on ultrasound.10,18 In
PRENATAL SCREENING AND THE ROLE OF ULTRASOUND
The American College of Obstetricians and Gynecologists (ACOG) and the National Institutes of Child Health and Human Development recommend that all pregnant women be offered genetic screening, which can include maternal serum testing for various analytes in the first and second trimesters and/or an ultrasound in the first and second
Table 2. Trisomy Screening Results for L.S.
Disorder
st Trimester Cutoff
Risk Before Screening
Risk After Screening
Results
Trisomy 21
1 in 299
1 in 870
1 in ⬎10,000
Within normal range
Trisomy 18/13
1 in 150
1 in 1514
1 in ⬎10,000
Within normal range
–
–
1 in 1100
Screen negative
Neural tube defect
Table 3. Screening Options for Trisomy 21 in Pregnancy
Marker/Analyte/Screening Test Noninvasive prenatal testing First-trimester combined screening Fully integrated screenb
a
Trimester When Test Performed
Sensitivity,
Specificity,
1 and 2
99-100
99
1
78-91
95
1 and 2
94-96
95
Triple screenc
2
69
95
Quadruple screend
2
75-83
95
Increased nuchal translucency
1
60-82
75-80
Fetal anatomy ultrasound
2
50-70
92
Thickened nuchal fold
2
4
99
Choroid plexus cyst
2
1
99
Intracardiac echogenic focus
2
11
95-96
Echogenic bowel
2
4
99-100
Renal pyelectasis
2
2
99
Abbreviations: aFP, alpha fetaprotein; hCG, human chorionic gonadotropin; NT, nuchal translucency; PAPP-A, pregnancy-associated plasma protein A. a First-trimester combined screen includes: nuchal translucency (NT) + pregnancy-associated plasma protein A (PAPP-A) + free human chorionic gonadotropin (hCG). b Fully integrated screen includes: NT + PAPP-A + hCG + alpha feta protein (aFP). c Triple screen/multiple maternal serum marker includes: aFP + unconjugated estriol + hCG. d Quadruple screen includes (aFP + unconjugated estriol + hCG + inhibin A). Adapted from Malone et al,26 Wilson et al,20 and Smith-Bindman et al.17
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Figure 1. Intracardiac Echogenic Focus Axial 4-chamber view of the heart with a solitary left-ventricular intracardiac echogenic focus. Reprinted with permission of Judy A. Estroff, MD.
trimesters.3 Those women at risk for aneuploidy, based on LRs and risk factors, should be offered a chromosomal test for diagnosis.19,20 Ultrasound can detect variations in fetal anatomy, including major defects as well as small variations that may not affect organ function or have a clear association with a specific disorder.21 The term soft markers refers to morphologic variations present in up to 11% of fetuses that have little or no pathologic significance in isolation but are seen more commonly in fetuses with congenital abnormalities.12,21 Agaard-Tillery et al conducted a large study of more than 7842 pregnant women and found that the ultrasound detection of soft markers, including ICEF, can increase detection rates of trisomy 21 of combined and quadruple tests (ie, integrated screen) from 93% to 98%.4 Huang et al similarly found that ultrasound markers helped identify fetuses with trisomy 21 as an adjunct to first-trimester screening.22 However, other researchers question if the detection of soft markers is harmful. They also question the value of disclosing the presence of isolated ICEF to women with a low risk for aneuploidy due to the additional risk of increasing maternal anxiety when a low likelihood of fetal abnormality exists.5,6,9 Although ultrasound performed by a trained sonographer is very sensitive, it is not very specific.22,23 Sensitivity is the ability of a test to correctly detect an abnormality24 ; it also is the percentage of affected individuals who have a positive test (when they truly have the abnormality). If the sensitivity of a test is high and the number of unaffected individuals with a positive test is low, the false-negative rate will also be low. Sensitivity is sometimes reported as the detection rate.6,18,20,25 Specificity is the ability of a test to accurately exclude an abnormality.24 It is the percentage of unaffected individuals who have a negative test when they truly do not Journal of Midwifery & Women’s Health r www.jmwh.org
have the abnormality.18,25 Serum analytes and ultrasound soft markers vary in their strength of association with trisomy 21 (Table 2).17,20,26 First-trimester combined screening has demonstrated detection rates from 78% to 91% for trisomy 21.6,20 When a woman has a normal first-trimester screen and ICEF is found on ultrasound in the second trimester, there is little reason to be concerned that the fetus has trisomy 21.6 Further testing is not warranted if ICEF is found in isolation, especially with normal first- and second-trimester screening results. However, some women may desire further screening or testing. In the past, amniocentesis was the next level of fetal testing, but there are new options to assess fetal karyotype that do not involve a risk of miscarriage. Noninvasive prenatal testing is the analysis of free-cell fetal DNA fragments from the mother’s blood.19 This fetal-screening method has a high sensitivity and specificity of greater than 99%, without the miscarriage risk of invasive diagnostic procedures.19,20,27 EMOTIONAL EFFECT OF INTRACARDIAC ECHOGENIC FOCUS DETECTION
Unusual or abnormal findings on ultrasound can cause significant worry and stress for women.28–30 Most women and partners view the ultrasound as an important social event and are not emotionally prepared for abnormal findings.31–33 When abnormalities of unclear significance are detected, there are no well-researched algorithms for clinical management, leaving providers and parents without clear information.5,7 Several small studies of similar samples of women and couples found that most did not feel prepared for the possibility of abnormal ultrasound results and were displeased with the presentation of the findings.7,28,31,32 A 19% increase in 85
invasive testing was found in couples who were told that their fetus had an isolated soft marker. Many couples wanted to relieve worry about fetal health, despite risk counseling that the chance of a fetal abnormality was low.8,9,28–30,34 In low-risk women, the report of ICEF detection may cause more harm than good9 because the chance of the fetus having trisomy 21 is less than the chance of miscarriage from an amniocentesis.10 Nondisclosure of ICEF to women at lowest risk could be considered because some women surveyed would have rather not known about the marker.7,9 IMPLICATIONS FOR PRACTICE Ultrasound Preparation
The midtrimester ultrasound is a positively anticipated event for most pregnant women. However, many women do not understand the purpose, risks, benefits, and limitations of ultrasound screening.21,34 It is important that the provider counsel women appropriately about the risks, benefits, and limitations of ultrasound imaging, including the likely percentage of false-positive or false-negative results.21,34 Formalized informed consent is used in Sweden, the Netherlands, and the United Kingdom and is recommended in the United States by ACOG.3,32,35,36 Informed consent is best achieved by providing written information, discussing the possibility of unwanted findings warranting further testing, and reviewing the limitations of ultrasound.28,34 A woman-centered, nondirective approach should be used to obtain informed consent.37 Women should be allowed to select from a variety of fetal screening and diagnostic methods.22,23 Informed consent need not occur within an individual clinic visit. Group education about prenatal testing has been shown to increase knowledge of test options and utilization of prenatal testing.38 In addition, providers felt that group education made the most of their time and allowed clinic visits to be used for a greater number of individual discussions than was possible when all discussions of prenatal testing were conducted individually.38 There are a variety of informational handouts designed to assist in the informed consent process, including both open access and proprietary materials. The Share with Women patient education series in this Journal has a handout titled “Making Decisions about Prenatal Tests,”39 and there are several tested decision aids available as well. Decision Aids
Decision aids are guides, based on the current literature, that assist providers and women in discussing health care decisions.40 Decision aids provide a concrete, structured path to clarify values and develop a personalized plan of care. When compared to usual care, decision aids increase knowledge, improve risk perceptions, and result in a higher proportion of individuals choosing an option congruent with their values. In addition, they reduced passive decision making and improved client–practitioner communication.40 Decision aids can be used as a component of informed choice about fetal screening.31 Women’s partners should be more involved in the decision-making process, and midwife and women’s 86
counseling preferences differ somewhat.7,35,36,41 Two studies of women’s and partner’s preferences in counseling found that midwives may need to shift the focus away from the distribution of information and materials, which can be perceived of as advice, to an exploration of women’s and partner’s views and wishes through open dialogue.35,41 Some couples found information provided by the midwife too factual; they desired more experiential information, including information from other couples who had experienced invasive testing or parented a child diagnosed with trisomy 21.41 The shared decision-making model or experiential information resources such as www.healthtalkonline.org help women clarify their values and make a decision on further testing.35,41 Detection rate and cost were found to be the most valuable attributes that partners considered when making prenatal screening decisions, which could have implications for the way that screening tests are discussed with women as well as the availability of testing options.36,41 Ultrasound Debriefing
Some protocols or practices may need to be updated to provide pre- and postultrasound counseling and provide immediate disclosure of an abnormal finding.7,31 Providers can minimize distress by following the ultrasound examination with open-ended questions such as “Tell me about your ultrasound,” providing an opportunity to discuss any abnormalities or soft markers and encouraging women to talk about their experience and concerns.28 Written, evidence-based information about the diagnosis or abnormality can be beneficial because distress can interfere with the comprehension of information presented.21 Techniques to improve the discussion of risk were studied by Gates, who found that it is best to communicate risk using rates (eg, 40/1000) rather than proportions (eg, 1/25), odds (especially when using large denominators), or percentages (eg, 4%)—regardless of age, language, and education level.42 Subsequent to counseling, it is important to discuss a woman’s perceptions of her risk to assess accurate comprehension.42 To better understand the impact of worry and anxiety on testing uptake, Tercyak et al studied factors associated with amniocentesis use.30 Whereas the risk of giving birth to a newborn with genetic abnormalities for most women was around 1:100 or 1%, women overestimated their risk by nearly 10fold when not provided with clear guidance.30 The data suggest women participating in prenatal screening are likely to experience distress, unrealistic perceptions of their risk, and lingering feelings of worry. In addition, interventions such as counseling may decrease their stress.8,30 Tools such as the State Trait Anxiety Inventory and Miller Behavioral Style Scale are available to measure anxiety and assess coping.30,43 CONCLUSION
An isolated finding of ICEF in a woman whose screening tests reported a low risk for trisomy 21 has a low predictive value for trisomy 21 and does not predict later cardiac function.1,2,14–17 However, the finding can cause the woman and her partner to worry about the fetus’ health. Informed consent prior to the ultrasound, and debriefing and counseling immediately after Volume 60, No. 1, January/February 2015
a finding of abnormal or ambiguous results, can decrease anxiety and worry in couples. Although additional testing is not warranted, some women and their partners would like additional testing to allay their concerns. AUTHORS
Heather Murphy, CNM, MSN, is staff nurse-midwife at the University of South Florida Physicians Group in the Division of Midwifery in Tampa, FL. She is an adjunct instructor at the Midwifery Institute of Philadelphia University. Julia C. Phillippi, CNM, PhD, FACNM, is Assistant Professor at the Vanderbilt School of Nursing in Nashville, Tennessee. She teaches in their MSN and DNP programs and practices in their faculty practice. CONFLICT OF INTEREST
The authors have no conflicts of interest to disclose. REFERENCES 1.Rodriguez R, Herrero B, Bartha JL. The continuing enigma of the fetal echogenic intracardiac focus in prenatal ultrasound. Curr Opin Obstet Gynecol. 2013;25(2):145-151. 2.Shanks AL, Odibo AO, Gray DL. Echogenic intracardiac foci: Associated with increased risk for fetal trisomy 21 or not? J Ultrasound Med. 2009;28(12):1639-1643. 3.American College of Obstetricians and Gynecologists. ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-227. 4.Aagaard-Tillery KM, Malone FD, Nyberg DA, et al. Role of secondtrimester genetic sonography after Down syndrome screening. Obstet Gynecol. 2009;114(6):1189-1196. 5.Bricker L, Garcia J, Henderson J, Mugford M, Neilson J. Ultrasound screening in pregnancy: A systematic review of the clinical effectiveness, cost effectiveness and women’s views. Health Technol Assess. 2000;4(16):193. 6.Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V. The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening. Prenat Diagn. 2013;33(8):804806. 7.Ahman A, Runestam K, Sarkadi A. Did i really want to know this? Pregnant women’s reaction to detection of a soft marker during ultrasound screening. Patient Educ Couns. 2010;81(1):87-93. 8.Ahman A, Axelsson O, Maras G, Rubertsson C, Sarkadi A, Lindgren P. Ultrasonographic fetal soft markers in a low-risk population: Prevalence, association with trisomies and invasive tests. Acta Obstet Gynecol Scand. 2014;93(4):367-373. 9.Chasen ST, Razavi AS. Echogenic intracardiac foci: Disclosure and the rate of amniocentesis in low-risk patients. Am J Obstet Gynecol. 2013;209(4):377 e1-e3. 10.Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic performance of intracardiac echogenic foci for Down syndrome: A meta-analysis. Obstet Gynecol. 2003;101(5 Pt 1):1009-1016. 11.Perles Z, Nir A, Gavri S, Golender J, Rein AJ. Intracardiac echogenic foci have no hemodynamic significance in the fetus. Pediatr Cardiol. 2010;31(1):7-10. 12.Estroff JA. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy. Pediatr Radiol. 2012;42(Suppl 1):S5-S23. 13.Facio MC, Hervias-Vivancos B, Broullon JR, Avila J, Fajardo-Exposito MA, Bartha JL. Cardiac biometry and function in euploid fetuses with intracardiac echogenic foci. Prenat Diagn. 2012;32(2):113-116. 14.Kurtulmus S, Mese T, Taner CE, et al. Evaluation of tissue Dopplerderived myocardial performance index in fetuses with intracardiac
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echogenic focus. J Matern Fetal Neonatal Med. 2013;26(16):16621666. 15.Hamdan MA, El Zoabi BA, Al Shamsi A, Bekdache GN, Chedid F. Fetal echogenic cardiac foci: Prospective postnatal electrocardiographic follow-up. J Perinatol. 2013;33(4):268-270. 16.Wax JR, Donnelly J, Carpenter M, et al. Childhood cardiac function after prenatal diagnosis of intracardiac echogenic foci. J Ultrasound Med. 2003;22(8):783-787. 17.Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: A meta-analysis. JAMA. 2001;285(8):1044-1055. 18.Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41(3):247-261. 19.Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: What has happened since the rubber met the road? Clin Chem. 2014;60(1):78-87. 20.Wilson KL, Czerwinski JL, Hoskovec JM, et al. NSGC practice guideline: Prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013;22(1):4-15. 21.Whitworth M, Bricker L, Neilson JP, Dowswell T. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev. 2010(4):CD007058. 22.Huang SY, Shaw SW, Cheuh HY, Cheng PJ. Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening. Acta Obstet Gynecol Scand. 2010;89(8):1017-1023. 23.Lo TK, Lai FK, Leung WC, Lau WL, Tang LC, Chin RK. A new policy for prenatal screening and diagnosis of Down syndrome for pregnant women with advanced maternal age in a public hospital. J Matern Fetal Neonatal Med. 2010;23(8):914-919. 24.Murphy PA, Jacobson J, Turok DK. Criterion-based screening for sexually transmitted infection: Sensitivity, specificity, and predictive values of commonly used questions. J Midwifery Womens Health. 2012;57(6):622-628. 25.Grant SS. Options for Down syndrome screening: What will women choose? J Midwifery Womens Health. 2005;50(3):211218. 26.Malone FD, Canick JA, Ball RH, et al. First-trimester or secondtrimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353(19):2001-2011. 27.Latandresse G. An update on current prenatal testing options: First trimester and non-invasive prenatal testing. J Midwifery Womens Health. 2015;60(1):24-36. 28.Mitchell LM. Women’s experiences of unexpected ultrasound findings. J Midwifery Womens Health. 2004;49(3):228-234. 29.Viaux-Savelon S, Dommergues M, Rosenblum O, et al. Prenatal ultrasound screening: False positive soft markers may alter maternal representations and mother-infant interaction. PloS One. 2012;7(1):e30935. 30.Tercyak KP, Johnson SB, Roberts SF, Cruz AC. Psychological response to prenatal genetic counseling and amniocentesis. Patient Educ Couns. 2001;43(1):73-84. 31.Ahman A, Lindgren P, Sarkadi A. Facts first, then reaction—expectant fathers’ experiences of an ultrasound screening identifying soft markers. Midwifery. 2012;28(5):e667-e675. 32.Garcia J, Bricker L, Henderson J, et al. Women’s views of pregnancy ultrasound: A systematic review. Birth. 2002;29(4):225-250. 33.Baillie C, Smith J, Hewison J, Mason G. Ultrasound screening for chromosomal abnormality: Women’s reactions to false positive results. Br J Health Psychol. 2000;5(4):377-394. 34.Cristofalo EA, Dipietro JA, Costigan KA, Nelson P, Crino J. Women’s response to fetal choroid plexus cysts detected by prenatal ultrasound. J Perinatol. 2006;26(4):215-223. 35.Martin L, Hutton EK, Spelten ER, Gitsels-van der Wal JT, van Dulmen S. Midwives’ views on appropriate antenatal counselling for congenital anomaly tests: Do they match clients’ preferences? Midwifery. 2014;30(6):600-609.
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36.Carroll FE, Al-Janabi H, Flynn T, Montgomery AA. Women and their partners’ preferences for Down’s syndrome screening tests: A discrete choice experiment. Prenat Diagn. 2013;33(5):449-456. 37.American College of Nurse-Midwives. Core Competencies for Basic Midwifery Practice. Silver Spring, MD: American College of NurseMidwives; 2012. 38.Knutzen DM, Stoll KA, McClellan MW, Deering SH, Foglia LM. Improving knowledge about prenatal screening options: Can group education make a difference? J Matern Fetal Neonatal Med. 2013;26(18):1799-1803. 39.Making decisions about prenatal tests for birth defects. J Midwifery Womens Health. 2013;58(4):483-484.
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40.Stacey D, Legare F, Col NF, et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev. 2014;1:CD001431. 41.Carroll FE, Owen-Smith A, Shaw A, Montgomery AA. A qualitative investigation of the decision-making process of couples considering prenatal screening for Down syndrome. Prenat Diagn. 2012;32(1):5763. 42.Gates EA. Communicating risk in prenatal genetic testing. J Midwifery Womens Health. 2004;49(3):220-227. 43.Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psychol. 1992;31(Pt 3):301-306.
Volume 60, No. 1, January/February 2015
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Clinical Rounds
Isolated Intracardiac Echogenic Focus on Routine Ultrasound: Implications for Practice Heather Murphy, CNM, MSN, Julia C. Phillippi, CNM, PhD
Ultrasound is widely used as a screening tool for fetal anomalies. An intracardiac echogenic focus (ICEF) is associated with fetal aneuploidy, particularly trisomy 21, when found with other minor abnormalities known as soft markers. However, when found in isolation, intracardiac echogenic foci are morphologic variations with little or no pathologic significance for the fetus. Ambiguity about the significance of ICEF and other soft markers and the lack of preparation prior to ultrasound can result in unnecessary worry for women and their partners. A variety of tools exist that providers can use to help pregnant women and their partners make informed decisions about ultrasound and fetal screening. c 2015 by the American College of Nurse-Midwives. J Midwifery Womens Health 2015;60:83–88 Keywords: intracardiac echogenic focus, ultrasound, trisomy 21, aneuploidy, soft marker, prenatal screening
CASE REPORT
L.S. is an 18-year-old nulliparous woman (composite case) who presented for care at 10 weeks’ gestation with a certain last menstrual period. She had a noncontributory medical, social, and family history. After discussing all of the options for genetic screening with her midwife, including detection and false-positive rates, L.S. chose to have combined firsttrimester screening and then second-trimester quadruple screening with the integrated screen. The normal results of her screening tests are listed in Tables 1 and 2. In explaining the test results, the midwife discussed with L.S. that her likelihood of having a fetus with aneuploidy was less than 1 in 10,000 and her likelihood of having a fetus with a neural tube defect was 1 in 1100. The midwife used a visual aid to help L.S. and her partner understand the actual chance of these conditions affecting her pregnancy. At 20 weeks, L.S. had an ultrasound for dating and anatomy. The fetus had normal anatomy, with the exception of an intracardiac echogenic focus (ICEF). Immediately following the ultrasound, the midwife met with L.S. and her partner to explain that ICEF usually resolves spontaneously and does not affect heart function, although it has some association with trisomy 21. The midwife explained that the risk of the fetus having trisomy 21 was low based on her individualized risk factors and earlier screening results. The midwife gave the couple written information on ICEF to take home and offered reassurance and support to L.S. and her partner. At the next visit, L.S. and her partner stated that they had been very worried about the fetus because of the ultrasound results. The midwife reassured them that ICEF is considered normal when found in isolation and then discussed their values and options for additional fetal testing to diagnose trisomy 21. After discussion, L.S. stated that she would want to be prepared if her
fetus had trisomy 21 but would not terminate her pregnancy based on diagnostic findings. L.S. and her partner chose to have noninvasive prenatal testing to analyze fetal DNA. The DNA screening suggested that, with near 100% confidence, the fetus was a euploid male. After further screening, the pregnancy progressed normally. L.S. gave birth vaginally to a 7-pound, 11-ounce boy at 41 weeks’ gestation without complications. INTRODUCTION
About 3.5% to 5% of routine, midgestation pregnancy ultrasounds detect ICEF in the fetus.1,2 Although ICEF can be associated with trisomy 21, it has a low sensitivity and specificity and a high false-positive rate for this condition.1–3 In fact, there is disagreement in the literature concerning whether the detection of soft markers such as ICEF is even valuable for the detection of trisomy 21.4–6 The detection of ICEF subsequent to negative fetal-screening results, with nuchal translucency and serum analytes that include free--human chorionic gonadotropin (hCG), alpha-fetaprotein, and pregnancy-associated plasma protein A, can cause concern in women and their partners.5,7 The detection of ICEF increases the number of women opting for invasive tests without providing additional insight into fetal status.5,7,8 These tests have risks, including the miscarriage of a healthy fetus.5,7–10 L.S. was found to be at low risk for having a fetus with trisomy 21 based on her screening results, but she was concerned after the incidental finding of ICEF on a routine ultrasound. The high rate of maternal worry after discovery of ICEF raises concerns about the informed consent process and role of ultrasound as a genetic screening tool.5,7 This article describes the clinical significance of ICEF in women with minimal risk for aneuploidy. INTRACARDIAC ECHOGENIC FOCUS
Address correspondence to Heather Murphy, CNM, MSN, USF Physicians Group, Division of Midwifery, 2 Tampa General Circle, 4th floor, Tampa, FL 33606. E-mail: [email protected]
ICEF is an ultrasound finding of an echogenic bright area in the fetal heart with the same brightness as bone1,11,12 that moves synchronically to the atrioventricular valves13 (Figure 1). The echogenicity probably represents
1526-9523/09/$36.00 doi:10.1111/jmwh.12282
c 2015 by the American College of Nurse-Midwives
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clinical practice, one usually translates this risk adjustment by doubling the risk from sequential testing by applying a likelihood ratio (LR) of 2 to 2.8.9,17 The risk of L.S. having a fetus with trisomy 21 would change from 1 in 10,000 to 1 in 5000, which is still considered low risk and not an indication for amniocentesis.9 Although ICEF is weakly associated with cardiac abnormalities, it is a poor predictor of long-term cardiac outcomes and function.16 Systolic and diastolic function in 61 fetuses with ICEF were compared with 55 fetuses without ICEF using echocardiographic Doppler imaging of the myocardial tissue, and the isolated ICEF was not associated with cardiac dysfunction.14 The study authors concluded that fetuses with isolated ICEF and no structural or cardiac anomalies did not need fetal echocardiography (ECHO) to assess cardiac function.14 Other studies have found that ICEF does not predict depressed cardiac function in the fetus11 and is not associated with myocardial dysfunction from birth to 24 months of age using fetal ECHO, electrocardiogram, and 24-hour ambulatory Holter monitoring.11,15,16
Table 1. Ultrasound and Maternal Biochemical Analyte Results for L.S.
Marker/Analyte
Value
Percentile
96.61 ng/mL
70
2.12 mIU/mL
60
1.1 mm
25
131.0 ng/mL
–
Free--human chorionic gonadotropin Pregnancy-associated plasma protein A Nuchal translucency Maternal serum alpha-fetoprotein
microcalcifications of the papillary muscles or chordae tendinae.9,14,15 ICEF is present at the midtrimester ultrasound in 3.5% of euploid fetuses and in 15% to 30% of fetuses with trisomy 21.1,2 There can be one or multiple echogenic areas in the heart; they are most commonly found in the left ventricle.14 Although ICEF is more common in fetuses with trisomy 21 than in fetuses without trisomy 21, only about 11 to 15 of every 100 fetuses with an isolated ICEF will have trisomy 21.16,17 Smith-Bindman conducted a meta-analysis of studies that found an association between ICEF and trisomy 21. This analysis found that if ICEF is identified, the odds of trisomy 21 are increased approximately 2.8-fold (or a positive likelihood ratio of 2.8).17 Based on more recent large meta-analyses, the risk of a fetus having trisomy 21 is increased by a factor of 5.4 to 6.2 when an isolated ICEF is present on ultrasound.10,18 In
PRENATAL SCREENING AND THE ROLE OF ULTRASOUND
The American College of Obstetricians and Gynecologists (ACOG) and the National Institutes of Child Health and Human Development recommend that all pregnant women be offered genetic screening, which can include maternal serum testing for various analytes in the first and second trimesters and/or an ultrasound in the first and second
Table 2. Trisomy Screening Results for L.S.
Disorder
st Trimester Cutoff
Risk Before Screening
Risk After Screening
Results
Trisomy 21
1 in 299
1 in 870
1 in ⬎10,000
Within normal range
Trisomy 18/13
1 in 150
1 in 1514
1 in ⬎10,000
Within normal range
–
–
1 in 1100
Screen negative
Neural tube defect
Table 3. Screening Options for Trisomy 21 in Pregnancy
Marker/Analyte/Screening Test Noninvasive prenatal testing First-trimester combined screening Fully integrated screenb
a
Trimester When Test Performed
Sensitivity,
Specificity,
1 and 2
99-100
99
1
78-91
95
1 and 2
94-96
95
Triple screenc
2
69
95
Quadruple screend
2
75-83
95
Increased nuchal translucency
1
60-82
75-80
Fetal anatomy ultrasound
2
50-70
92
Thickened nuchal fold
2
4
99
Choroid plexus cyst
2
1
99
Intracardiac echogenic focus
2
11
95-96
Echogenic bowel
2
4
99-100
Renal pyelectasis
2
2
99
Abbreviations: aFP, alpha fetaprotein; hCG, human chorionic gonadotropin; NT, nuchal translucency; PAPP-A, pregnancy-associated plasma protein A. a First-trimester combined screen includes: nuchal translucency (NT) + pregnancy-associated plasma protein A (PAPP-A) + free human chorionic gonadotropin (hCG). b Fully integrated screen includes: NT + PAPP-A + hCG + alpha feta protein (aFP). c Triple screen/multiple maternal serum marker includes: aFP + unconjugated estriol + hCG. d Quadruple screen includes (aFP + unconjugated estriol + hCG + inhibin A). Adapted from Malone et al,26 Wilson et al,20 and Smith-Bindman et al.17
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Figure 1. Intracardiac Echogenic Focus Axial 4-chamber view of the heart with a solitary left-ventricular intracardiac echogenic focus. Reprinted with permission of Judy A. Estroff, MD.
trimesters.3 Those women at risk for aneuploidy, based on LRs and risk factors, should be offered a chromosomal test for diagnosis.19,20 Ultrasound can detect variations in fetal anatomy, including major defects as well as small variations that may not affect organ function or have a clear association with a specific disorder.21 The term soft markers refers to morphologic variations present in up to 11% of fetuses that have little or no pathologic significance in isolation but are seen more commonly in fetuses with congenital abnormalities.12,21 Agaard-Tillery et al conducted a large study of more than 7842 pregnant women and found that the ultrasound detection of soft markers, including ICEF, can increase detection rates of trisomy 21 of combined and quadruple tests (ie, integrated screen) from 93% to 98%.4 Huang et al similarly found that ultrasound markers helped identify fetuses with trisomy 21 as an adjunct to first-trimester screening.22 However, other researchers question if the detection of soft markers is harmful. They also question the value of disclosing the presence of isolated ICEF to women with a low risk for aneuploidy due to the additional risk of increasing maternal anxiety when a low likelihood of fetal abnormality exists.5,6,9 Although ultrasound performed by a trained sonographer is very sensitive, it is not very specific.22,23 Sensitivity is the ability of a test to correctly detect an abnormality24 ; it also is the percentage of affected individuals who have a positive test (when they truly have the abnormality). If the sensitivity of a test is high and the number of unaffected individuals with a positive test is low, the false-negative rate will also be low. Sensitivity is sometimes reported as the detection rate.6,18,20,25 Specificity is the ability of a test to accurately exclude an abnormality.24 It is the percentage of unaffected individuals who have a negative test when they truly do not Journal of Midwifery & Women’s Health r www.jmwh.org
have the abnormality.18,25 Serum analytes and ultrasound soft markers vary in their strength of association with trisomy 21 (Table 2).17,20,26 First-trimester combined screening has demonstrated detection rates from 78% to 91% for trisomy 21.6,20 When a woman has a normal first-trimester screen and ICEF is found on ultrasound in the second trimester, there is little reason to be concerned that the fetus has trisomy 21.6 Further testing is not warranted if ICEF is found in isolation, especially with normal first- and second-trimester screening results. However, some women may desire further screening or testing. In the past, amniocentesis was the next level of fetal testing, but there are new options to assess fetal karyotype that do not involve a risk of miscarriage. Noninvasive prenatal testing is the analysis of free-cell fetal DNA fragments from the mother’s blood.19 This fetal-screening method has a high sensitivity and specificity of greater than 99%, without the miscarriage risk of invasive diagnostic procedures.19,20,27 EMOTIONAL EFFECT OF INTRACARDIAC ECHOGENIC FOCUS DETECTION
Unusual or abnormal findings on ultrasound can cause significant worry and stress for women.28–30 Most women and partners view the ultrasound as an important social event and are not emotionally prepared for abnormal findings.31–33 When abnormalities of unclear significance are detected, there are no well-researched algorithms for clinical management, leaving providers and parents without clear information.5,7 Several small studies of similar samples of women and couples found that most did not feel prepared for the possibility of abnormal ultrasound results and were displeased with the presentation of the findings.7,28,31,32 A 19% increase in 85
invasive testing was found in couples who were told that their fetus had an isolated soft marker. Many couples wanted to relieve worry about fetal health, despite risk counseling that the chance of a fetal abnormality was low.8,9,28–30,34 In low-risk women, the report of ICEF detection may cause more harm than good9 because the chance of the fetus having trisomy 21 is less than the chance of miscarriage from an amniocentesis.10 Nondisclosure of ICEF to women at lowest risk could be considered because some women surveyed would have rather not known about the marker.7,9 IMPLICATIONS FOR PRACTICE Ultrasound Preparation
The midtrimester ultrasound is a positively anticipated event for most pregnant women. However, many women do not understand the purpose, risks, benefits, and limitations of ultrasound screening.21,34 It is important that the provider counsel women appropriately about the risks, benefits, and limitations of ultrasound imaging, including the likely percentage of false-positive or false-negative results.21,34 Formalized informed consent is used in Sweden, the Netherlands, and the United Kingdom and is recommended in the United States by ACOG.3,32,35,36 Informed consent is best achieved by providing written information, discussing the possibility of unwanted findings warranting further testing, and reviewing the limitations of ultrasound.28,34 A woman-centered, nondirective approach should be used to obtain informed consent.37 Women should be allowed to select from a variety of fetal screening and diagnostic methods.22,23 Informed consent need not occur within an individual clinic visit. Group education about prenatal testing has been shown to increase knowledge of test options and utilization of prenatal testing.38 In addition, providers felt that group education made the most of their time and allowed clinic visits to be used for a greater number of individual discussions than was possible when all discussions of prenatal testing were conducted individually.38 There are a variety of informational handouts designed to assist in the informed consent process, including both open access and proprietary materials. The Share with Women patient education series in this Journal has a handout titled “Making Decisions about Prenatal Tests,”39 and there are several tested decision aids available as well. Decision Aids
Decision aids are guides, based on the current literature, that assist providers and women in discussing health care decisions.40 Decision aids provide a concrete, structured path to clarify values and develop a personalized plan of care. When compared to usual care, decision aids increase knowledge, improve risk perceptions, and result in a higher proportion of individuals choosing an option congruent with their values. In addition, they reduced passive decision making and improved client–practitioner communication.40 Decision aids can be used as a component of informed choice about fetal screening.31 Women’s partners should be more involved in the decision-making process, and midwife and women’s 86
counseling preferences differ somewhat.7,35,36,41 Two studies of women’s and partner’s preferences in counseling found that midwives may need to shift the focus away from the distribution of information and materials, which can be perceived of as advice, to an exploration of women’s and partner’s views and wishes through open dialogue.35,41 Some couples found information provided by the midwife too factual; they desired more experiential information, including information from other couples who had experienced invasive testing or parented a child diagnosed with trisomy 21.41 The shared decision-making model or experiential information resources such as www.healthtalkonline.org help women clarify their values and make a decision on further testing.35,41 Detection rate and cost were found to be the most valuable attributes that partners considered when making prenatal screening decisions, which could have implications for the way that screening tests are discussed with women as well as the availability of testing options.36,41 Ultrasound Debriefing
Some protocols or practices may need to be updated to provide pre- and postultrasound counseling and provide immediate disclosure of an abnormal finding.7,31 Providers can minimize distress by following the ultrasound examination with open-ended questions such as “Tell me about your ultrasound,” providing an opportunity to discuss any abnormalities or soft markers and encouraging women to talk about their experience and concerns.28 Written, evidence-based information about the diagnosis or abnormality can be beneficial because distress can interfere with the comprehension of information presented.21 Techniques to improve the discussion of risk were studied by Gates, who found that it is best to communicate risk using rates (eg, 40/1000) rather than proportions (eg, 1/25), odds (especially when using large denominators), or percentages (eg, 4%)—regardless of age, language, and education level.42 Subsequent to counseling, it is important to discuss a woman’s perceptions of her risk to assess accurate comprehension.42 To better understand the impact of worry and anxiety on testing uptake, Tercyak et al studied factors associated with amniocentesis use.30 Whereas the risk of giving birth to a newborn with genetic abnormalities for most women was around 1:100 or 1%, women overestimated their risk by nearly 10fold when not provided with clear guidance.30 The data suggest women participating in prenatal screening are likely to experience distress, unrealistic perceptions of their risk, and lingering feelings of worry. In addition, interventions such as counseling may decrease their stress.8,30 Tools such as the State Trait Anxiety Inventory and Miller Behavioral Style Scale are available to measure anxiety and assess coping.30,43 CONCLUSION
An isolated finding of ICEF in a woman whose screening tests reported a low risk for trisomy 21 has a low predictive value for trisomy 21 and does not predict later cardiac function.1,2,14–17 However, the finding can cause the woman and her partner to worry about the fetus’ health. Informed consent prior to the ultrasound, and debriefing and counseling immediately after Volume 60, No. 1, January/February 2015
a finding of abnormal or ambiguous results, can decrease anxiety and worry in couples. Although additional testing is not warranted, some women and their partners would like additional testing to allay their concerns. AUTHORS
Heather Murphy, CNM, MSN, is staff nurse-midwife at the University of South Florida Physicians Group in the Division of Midwifery in Tampa, FL. She is an adjunct instructor at the Midwifery Institute of Philadelphia University. Julia C. Phillippi, CNM, PhD, FACNM, is Assistant Professor at the Vanderbilt School of Nursing in Nashville, Tennessee. She teaches in their MSN and DNP programs and practices in their faculty practice. CONFLICT OF INTEREST
The authors have no conflicts of interest to disclose. REFERENCES 1.Rodriguez R, Herrero B, Bartha JL. The continuing enigma of the fetal echogenic intracardiac focus in prenatal ultrasound. Curr Opin Obstet Gynecol. 2013;25(2):145-151. 2.Shanks AL, Odibo AO, Gray DL. Echogenic intracardiac foci: Associated with increased risk for fetal trisomy 21 or not? J Ultrasound Med. 2009;28(12):1639-1643. 3.American College of Obstetricians and Gynecologists. ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217-227. 4.Aagaard-Tillery KM, Malone FD, Nyberg DA, et al. Role of secondtrimester genetic sonography after Down syndrome screening. Obstet Gynecol. 2009;114(6):1189-1196. 5.Bricker L, Garcia J, Henderson J, Mugford M, Neilson J. Ultrasound screening in pregnancy: A systematic review of the clinical effectiveness, cost effectiveness and women’s views. Health Technol Assess. 2000;4(16):193. 6.Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V. The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening. Prenat Diagn. 2013;33(8):804806. 7.Ahman A, Runestam K, Sarkadi A. Did i really want to know this? Pregnant women’s reaction to detection of a soft marker during ultrasound screening. Patient Educ Couns. 2010;81(1):87-93. 8.Ahman A, Axelsson O, Maras G, Rubertsson C, Sarkadi A, Lindgren P. Ultrasonographic fetal soft markers in a low-risk population: Prevalence, association with trisomies and invasive tests. Acta Obstet Gynecol Scand. 2014;93(4):367-373. 9.Chasen ST, Razavi AS. Echogenic intracardiac foci: Disclosure and the rate of amniocentesis in low-risk patients. Am J Obstet Gynecol. 2013;209(4):377 e1-e3. 10.Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic performance of intracardiac echogenic foci for Down syndrome: A meta-analysis. Obstet Gynecol. 2003;101(5 Pt 1):1009-1016. 11.Perles Z, Nir A, Gavri S, Golender J, Rein AJ. Intracardiac echogenic foci have no hemodynamic significance in the fetus. Pediatr Cardiol. 2010;31(1):7-10. 12.Estroff JA. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy. Pediatr Radiol. 2012;42(Suppl 1):S5-S23. 13.Facio MC, Hervias-Vivancos B, Broullon JR, Avila J, Fajardo-Exposito MA, Bartha JL. Cardiac biometry and function in euploid fetuses with intracardiac echogenic foci. Prenat Diagn. 2012;32(2):113-116. 14.Kurtulmus S, Mese T, Taner CE, et al. Evaluation of tissue Dopplerderived myocardial performance index in fetuses with intracardiac
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36.Carroll FE, Al-Janabi H, Flynn T, Montgomery AA. Women and their partners’ preferences for Down’s syndrome screening tests: A discrete choice experiment. Prenat Diagn. 2013;33(5):449-456. 37.American College of Nurse-Midwives. Core Competencies for Basic Midwifery Practice. Silver Spring, MD: American College of NurseMidwives; 2012. 38.Knutzen DM, Stoll KA, McClellan MW, Deering SH, Foglia LM. Improving knowledge about prenatal screening options: Can group education make a difference? J Matern Fetal Neonatal Med. 2013;26(18):1799-1803. 39.Making decisions about prenatal tests for birth defects. J Midwifery Womens Health. 2013;58(4):483-484.
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