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Management options for echogenic intracardiacfocus and choroid plexus cysts: A review includingAustralian Association of Obstetrical andGynaecological Ultrasonologists consensusstatementM Bethune1,2,3

1Ultrasound Department, The Royal Women’s Hospital, 2Department of Medical Imaging, The Mercy Hospital for Women and3Melbourne Ultrasound for Women, Melbourne, Victoria, Australia

SUMMARY

Echogenic intracardiac focus and choroid plexus cysts are common findings at the midtrimester ultrasound. These

findings have been linked with an increased risk of Down syndrome and trisomy 18. Most fetuses with these find-

ings will, however, not have chromosomal abnormalities, especially when these findings are isolated. Patients expe-

rience considerable anxiety when informed of these findings and require extensive counselling in order to

minimize anxiety not only about aneuploidy but also about the structure and development of the heart and brain.

Although early studies showed an association with aneuploidies, several recent studies have cast doubt on this

association. Many of the early studies were carried out in high-risk populations or in populations that had not had

the benefit of other screening tests. Many Australian and New Zealand patients will access screening tests designed

to detect these aneuploidies before presenting for a midtrimester ultrasound. Patients who have been screened by

nuchal translucency, maternal serum screening or some combination of the two will already have had most cases

of Down syndrome and trisomy 18 detected, and any soft marker found will almost certainly be a false positive. It

is time to rethink the management of these markers. Recent evidence indicates that if these markers are found in

isolation in an otherwise low-risk pregnancy, then there is minimal or no increase in the risk of Down syndrome or

trisomy 18: these markers should be considered normal variants.The Australian Association of Obstetrical and

Gynaecological Ultrasonologists consensus statement on these markers is included.

Key words: Down syndrome; fetus; prenatal screening; soft marker; ultrasound.

INTRODUCTION

Midtrimester soft markers have been in use for many years.

Despite the large volume of literature on this topic, controversy

rages as to the significance of some of these markers. Echo-

genic intracardiac focus (EIF) and choroid plexus cysts (CPC)

are two markers that were the subject of discussion at the 2005

Australian Association of Obstetrical and Gynaecological Ultra-

sonologists (AAOGU) annual conference. A consensus state-

ment was drafted and unanimously endorsed by those present

at the meeting. This article explains the reasoning behind the

consensus statement. This article aims to review the current

literature relating to these markers in an attempt to provide

evidence-based guidance on the managements of fetuses

found to have one of these markers.

M Bethune MB BS, FRANZCOG, DDU, COGU.

Correspondence: Dr Michael Bethune, c/o Melbourne Ultrasound for Women, Level 1/62, Lygon Street, Carlton, Vic. 3053, Australia.

Email: [email protected]

Submitted 29 June 2006; accepted 15 January 2007.

doi: 10.1111/j.1440-1673.2007.01716.x

RadiologyReview Article Australasian Radiology (2007) 51, 324–329

ª 2007 The AuthorJournal compilation ª 2007 The Royal Australian and New Zealand College of Radiologists

This article addresses isolated markers only. A fetus with

a structural abnormality and a soft marker should be treated as

for the structural abnormality, the soft marker is incidental. It

follows from this statement that if the fetal anatomy has not

been clearly visualized, then one cannot be sure that the soft

marker is isolated, and it may be necessary to repeat the ultra-

sound scan in 1–2 weeks or refer the patient to a tertiary obs-

tetric hospital or specialist obstetric ultrasound centre for

a second-opinion scan. It is important that the patient is aware

that the repeat scan is being carried out because of suboptimal

images and not because of a soft marker identified at the scan.

Soft markers may be reported by imaging specialists

because of the fear that failure to report might lead to potential

for litigation if the pregnancy is subsequently found to be

affected by Down syndrome. Although there is a valid argument

that it is the role of the midtrimester ultrasound to highlight

potential problems for the pregnancy, one must always be

mindful of the well-established medical principle ‘primum non

nocere’ (first do no harm). Almost 10 years ago, an editorial was

published in the British Medical Journal entitled ‘Ultrasonic Soft

Markers of Fetal Chromosome Defects, Detecting Them May

Do More Harm Than Good.’1 Whittle argued that there are sig-

nificant consequences/costs involved with detecting soft

markers. After finding a marker the patient must be offered

counselling which should be ‘detailed and of high quality’. He

further stated that there would be fetal losses due to conse-

quent further testing. Whittle suggested that before soft

markers are introduced into standard practice, ‘the costs must

be justified by the benefits to women’. This warning has not

been heeded.

The detection and reporting of a soft marker causes a range

of consequences. It invokes anxiety in the patient; this anxiety

can reach clinically significant levels in comparison with control

groups.2 The patient then requires further counselling, usually

initially by the imaging specialist or sonographer in the ultra-

sound room. Counselling may also be sought from their refer-

ring obstetrician or general practitioner and, if available,

a geneticist or genetic counsellor. This requires a significant

investment in time and counselling skills. Some of the patients

will proceed on to further tests, which are expensive and require

specific training and expertise. Unfortunately, some patients

undergoing invasive testing may miscarry. Amniocentesis is

not without risk, although the original randomized control trial

showed a 1% risk of miscarriage,3 a more recent review of

almost 70 000 procedures showed a procedure related a loss

rate of 1 in 166 (0.6%).4

Few studies have evaluated the difficult issue of what to do

with patients who have had screening before presenting for

a midtrimester ultrasound. Many Australian and New Zealand

patients will have nuchal translucency (NT) and/or maternal

serum screening (MSST) performed. Most of the Down syn-

drome fetuses will be detected by these screening tests, mak-

ing it highly likely that any EIF or CPC found in these previously

screened patients will be a false positive. In one study of almost

17 000 women, none of the fetuses with isolated EIF in a pre-

viously screened population (NT or MSST) were affected by

Down syndrome.5

Bayes’ theorem can be used to sequentially modify

a patient’s risk. Likelihood ratios are generated and used to

calculate a new risk from the patient’s previous risk. The advan-

tages of this technique are multiple. It is not necessary to

embark upon a detailed discussion about the nature of the soft

marker, instead the patients are told their original risk (age or

based on previous screening) and is then given their new risk. If

the new risk is less than 1:250, then the patient can be consid-

ered to be at low risk for aneuploidy and need not consider

amniocentesis (1:250 is the current cut-off for the midtrimester

serum screening test). There is little increase in the false-

positive rate as only those patients who enter the high-risk

group need be offered further investigation. Emotive state-

ments such as ‘there is a cyst in the brain’, ‘there is a spot on

the heart’ are avoided.

Before discussing each marker individually, one must con-

sider the occasional fetus who presents with both an EIF and

a CPC (but no other finding). These are markers for indepen-

dent conditions. Echogenic intracardiac focus is associated

with trisomy 21 not trisomy 18. Choroid plexus cyst is associ-

ated with trisomy 18 but not with trisomy 21, and it has a likeli-

hood ratio of 1.0 for trisomy 21.6 Consequently, a fetus with both

these findings should be independently assessed for each find-

ing as outlined below.

ECHOGENIC INTRACARDIAC FOCUS

Echogenic intracardiac focus was originally described as a

normal variant7 and has been shown to be microcalcifications

within the papillary muscle.8 It is a common finding in normal

fetuses (3–5% of the normal population), has been shown

to cause no functional heart defect and is not considered to

be associated with an increased risk of structural heart

abnormalities.9

The papillary muscles are often visible as echogenic spots

in the ventricle, they must be as bright as the adjacent ribs to be

considered an EIF, and consequently false positives are com-

mon (Fig. 1). Reducing the intensity gain to ensure that the

focus does not fade out before the ribs is an important test to

minimize false positives (Fig. 2).10

There have been case reports that have suggested that

multiple EIF or foci in the right ventricle are believed to be of

greater significance.11

One of the early studies to show an association with Down

syndrome concluded that 5% of normal fetuses and 18% of

fetuses with trisomy 21 had an EIF. There were, however, only

four Down syndrome fetuses with EIF in this study, and only

two of these were isolated EIF; all fetuses were high-risk

MANAGEMENT OF EIF AND CPC 325


fetuses (older than 35 or abnormal serum screen).12 There

have also been isolated case reports associating this finding

with trisomy 13, but almost all of these fetuses will have other

detectable abnormalities at the midtrimester ultrasound.13 I

could only identify one reported case of trisomy 18 in a review

of the literature, although this case was mentioned in more

than one review.10,14

Recent studies have shown a difference in the prevalence

of EIF between ethnic groups, the original study found that

30% of Asian women had a fetus with an EIF (although there

were only 46 Asian fetuses in the study group).15 Ethnic varia-

tion of this marker has been confirmed in recent larger studies.16,17

Several recent studies have cast doubt on the significance

of EIF. Two case–control studies showed an increased likeli-

hood ratio for Down syndrome, but in each case, this was not

statistically significant with confidence intervals crossing 1

(group of Nyberg et al.: likelihood ratio 1.5, 95% CI 0.6–3.6,18

group of Bromley et al.: likelihood ratio 1.4, 95% CI 0.6–4.319).

Two recent studies have cast further doubt on the signifi-

cance of isolated EIF. These two studies were carried out in

low-risk patients and showed an isolated EIF in only 1 of 626

Down syndrome fetuses.20,21 Both studies concluded that iso-

lated EIF was not a marker for Down syndrome in low-risk

patients (21 839 total patients). A third recent study showed

176 cases of EIF;22 there were three trisomies within this group.

Two of the trisomies had other abnormalities visible on ultra-

sound. Only a single trisomy was found in the 141 isolated EIF

patients; this occurred in a 38-year-old patient. The authors

concluded that for patients younger than 35, an isolated EIF

does not increase the risk of aneuploidy.22 Despite appropriate

counselling, 30% of the patients younger than 35 years of age

opted to have an amniocentesis, indicating a significant poten-

tial for fetal loss.22

An analytical model of patients younger than 35 years of

age having an amniocentesis for isolated EIF has been carried

out; the authors assumed a likelihood ratio of 4.0. It was cal-

culated that 485 amniocentesis were required to diagnose one

fetus with Down syndrome; that is, up to 2.8 miscarriages of

normal fetuses would occur for every Down syndrome fetus

detected.23

Few studies have looked at soft markers in patients who

have had previous screening; one study that addressed this

issue looked at almost 17 000 pregnancies, all mothers were

offered NT or MSST. There were no cases of trisomy 21 in

the group of patients who had isolated EIF (144 cases, 1% of

the total).5

A recent meta-analysis of 11 studies24 involving almost

52 000 pregnancies and over 300 Down syndrome fetuses

showed that although there was an increased risk of Down

syndrome with an isolated EIF, the increased risk is minimal

and the authors ‘argue[s] further against the use of isolated or

even combined EIF for guiding the decision for amniocentesis

. in otherwise low-risk women’.24

A summary of the evidence to date would indicate that

although early studies provided evidence supporting the intro-

duction of EIF as a marker for Down syndrome in high-risk

patients, more recent studies have cast doubt about the role

of this marker in unselected or low-risk populations.

CHOROID PLEXUS CYSTS

Approximately 1–3% of the normal population will have CPC

identified within the fetal head at the midtrimester ultrasound

(Fig. 3).25 It has been suggested that CPC should not be

reported unless they are greater than or equal to 5 mm in max-

imum dimension; cystic spaces within the choroid less than this

size should be considered ‘mottled’ choroid and are unlikely

to be significant.26,27 The CPC are not associated with an

increased risk of trisomy 21, with a likelihood ratio of 1.06. They

have, however, been associated with trisomy 18; approximately

Fig. 2. This echogenic spot disappears with reduced gain before the

ribs – it should not be considered to be an EIF. 18 week pregnancy,

normal outcome.

Fig. 1. An EIF in the left ventricle (note it is as bright as the adjacent

rib). 19 weeks gestation, normal outcome.

326 M BETHUNE


30–50% of fetuses with trisomy 18 have been shown to have

CPC.28 The vast majority of these fetuses will, however, have

additional abnormalities, with an estimated 80% of trisomy

18 fetuses having detectable structural abnormalities at the

midtrimester ultrasound.29 The detection of CPC has been esti-

mated to increase the background rate of trisomy 18 by a factor

of 9 times (likelihood ratio = 9).30 A recent study showed a similar

likelihood ratio of 7.09.31

Recent studies have raised doubt about the significance of

isolated CPC. Coco and Jeanty looked at almost 13 000 unse-

lected patients, and there were 366 isolated CPC, and none of

these fetuses were affected by trisomy 18.32 Another study

reviewed 38 prenatally detected trisomy 18 fetuses, although

50% showed CPC, none were isolated; all of these fetuses had

multiple other abnormalities.33 A recent study reported on

almost 50 000 patients34 including 50 in trisomy 18 fetuses.

The authors reported 1060 cases of isolated CPC with normal

hand appearances; none of these fetuses were affected by tri-

somy 18. There were, however, three trisomy 18 fetuses with

clenched hands and CPC as the only findings. This shows the

importance of assessing appropriate hand movement (fingers

open) in all midtrimester ultrasounds.34

The Journal of Ultrasound in Medicine recently published an

editorial position paper written by and supported by many of the

major researchers in obstetric and gynaecological ultrasound.35

The editors stated that isolated CPC (with normal hands in

particular) or EIF did not increase the risk of aneuploidy, con-

sequently ‘these findings do not need to be discussed with the

patient’.35 They contended that these findings could be consid-

ered to be a ‘normal variant’. The authors also reminded the

reader that it is not the role of the midtrimester scan to assess

the risk of aneuploidy unless the patient specifically consents to

this as there are other more accurate methods available

(screening or diagnostic).

This position statement not surprisingly sparked consider-

able debate, and a dissenting opinion was published in the

same journal 1 month later.36 The dissenting authors believed

that it was paternalistic not to share a potential modification of

a patient’s risk with that patient.

CONCLUSION: HOW SHOULD WE MANAGE EIF

AND CPC?

The literature to date leaves us in doubt about how to proceed

after the identification of isolated EIF or CPC at the midtrimester

ultrasound.

One option would be to treat these markers the same as the

other soft markers and to modify the previous risk by appropri-

ate likelihood ratios to generate a new risk. The suggested likeli-

hood ratios are 2.8 times the background risk of trisomy 21 for

an isolated EIF (95% CI 1.5–5.5) and nine times the back-

ground rate of trisomy 18 for an isolated CPC.30 This approach

is supported by much of the early literature in this field and

ensures that each patient receives an individualized risk as-

sessment at the end of the ultrasound.

This approach is based on the premise that ‘the patient has

a right to know any material risk’. This would involve alerting

each and every patient as to the presence of an EIF and a CPC.

This requires a lengthy explanation and counselling, which is

expensive in terms of time and skills required to counsel

patients. The report conclusion could be in a form similar to

Table 1.

This approach would involve notifying every patient of the

new risk, but focussing on the risk rather than on the ultrasound

finding: ideally minimizing patient’s anxiety about ‘holes/cysts in

the head’ or ‘problems with the heart’. Significant anxiety cannot

be avoided in all cases, and some low-risk patients may request

amniocentesis on the basis of the finding and subsequent anx-

iety, and this will potentially cause more miscarriages of unaf-

fected fetuses than detected Down syndrome fetuses. This may

also adversely affect patient’s perceptions of the remainder of

the pregnancy (‘medicalizing’ the pregnancy). Patients may

request further ultrasound scans later in the pregnancy to reas-

sure themselves that the heart or brain is in fact developing

appropriately.

Fig. 3. Large bilateral choroid plexus cysts. 18½ weeks pregnancy,

normal outcome.

Table 1. A possible format for reporting EIF or CPC found at a routine

midtrimester ultrasound

An ultrasound soft marker (EIF/CPC) has been noted. The

presence of this isolated soft marker has no clinical or functional

significance to this fetus and does not need review.

This marker has been shown to slightly increase the risk of

aneuploidy from a prior risk of 1 in xxx to a new risk of 1 in xxx.

This remains in the low-risk category.

CPC, choroid plexus cyst; EIF, echogenic intracardiac focus.



This approach also ignores the fact that recent studies have

cast doubt on the relevance of these two markers in low-risk

women. It may not be advisable to take a test with a known good

detection rate (e.g. approximately 90% for the combined first

trimester screen) and then modify the generated risk by the

results of a test with a very poor (and unknown) detection rate.

An alternative approach would be to decide not to report

isolated EIF or CPC in low-risk women. This approach implies

that these findings can be ignored as normal variants, provided

that adequate views have been obtained of all structures and

the in particular the fingers are seen to open and are not

clenched.

Not reporting EIF and CPC is contrary to the early estab-

lished literature in high-risk patients but implies that likelihood

ratios generated in high-risk patients are not necessarily appli-

cable to low-risk patients. It relies on the principle that manage-

ment should not be based on unproven and possibly unreliable

tests as there is a growing body of evidence casting doubt

on the role of EIF and CPC in the detection of aneuploidies.

This approach is not paternalistic if one takes the view that there

is insufficient good evidence of a link between these markers

and aneuploidy on the basis of recent studies involving unse-

lected and low-risk patients. This approach is supported by 22

leading American subspecialists in a recently published con-

sensus opinion.35

Not reporting isolated EIF and CPC has been endorsed by

the AAOGU in their recent consensus statement (Appendix I).

ACKNOWLEDGEMENTS

The author would like to thank Associate Professor Lachlan

deCrespigny, Principal Fellow, Department of Obstetrics and

Gynaecology, The University of Melbourne, for reviewing the

manuscript. The author would also like to acknowledge the staff

of the medical imaging and perinatal departments of the Mercy

Hospital for Women for their advice and feedback during the

development of protocols to manage soft markers. The com-

ments of Dr Susan Walker, Department of Perinatal Medicine,

were particularly helpful.

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29. Nyberg DA, Kramer D, Resta RG et al. Prenatal sonographic find-

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33. Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D,

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APPENDIX I

Australian association of obstetrical and

gynaecological ultrasonologists consensus

statement

Soft markers at the midtrimester anomaly ultrasound

This consensus statement was ratified unanimously at the

recent annual scientific meeting of the AAOGU (Launceston,

November 2005) and is planned for review on a regular basis.

Members present and endorsing

this statement

Dr Michael Bethune, Dr Danny Challis, Dr Rebecca Chalmers,

Dr Fung Yee Chan, Dr Jackie Chua, Associate Professor

Lachlan de Crespigny, Dr Andrew Edwards, Dr Bev Hewitt,

Dr Victor Hurley, Dr Louise Kornman, Dr Valeria Lanzarone,

Dr AndrewMcLennan, Dr Stanley Ng, Dr Debbie Nisbet, Dr Emily

Olive, Dr Sofie Piessens, Dr John Phillips, Dr Gary Pritchard,

Dr RB Richardson, Dr Alistair Roberts, Dr Amanda Sampson,

Dr Karen Shand, Dr Sashi Siva, Dr Paul Shekleton, Dr John

Smoleniec, Dr Mark Teoh, Dr Stephanie The, Dr Debbie Wass,

Dr Sue Walker, Dr Susan Winspear and Dr Nicole Woodrow.

There are effective prenatal screening tests available for chromo-

somal abnormalities (including Down syndrome) with detection

rates of up to 90%. The second trimester ultrasound has a much

lower detection rate and is therefore not intended as a Down syn-

drome screening test.

Recent studies have cast doubt as to the significance of some

ultrasound findings as markers for chromosome abnormalities.

These markers are: echogenic intra-cardiac focus; mild renal pelvis

dilatation; and choroid plexus cyst(s).

The detection of one of these markers in a routine mid-trimester

ultrasound is a warning sign to ensure that the ultrasound exami-

nation is of sufficient quality to reliably check for structural abnor-

malities, and in particular that the hands are not clenched.

If one of these markers in isolation is found in an otherwise low

risk patient then it may be considered to be a normal variant and

does not necessitate further discussion or investigation. Mild renal

pelvis dilatation should still be reported due to its association with

paediatric renal problems.



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