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Fetal heart and increased nuchal translucency: anatomical, pathophysiological, diagnosticand clinical aspectsBarker Clur, Sally-Ann

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Citation for published version (APA):Barker Clur, S-A. (2010). Fetal heart and increased nuchal translucency: anatomical, pathophysiological,diagnostic and clinical aspects.

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SAB Clur, PM van Brussel, J Ottenkamp, CM Bilardo

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7B: Accuracy and Benefit of Prenatal Diagnosis of Cardiac Defects in a referral Centre

Chapter 7

18175_Clur binnenwerk.indd 101 18-10-2010 14:00:23

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Chapter 7

Abstract

BackgroundGood prenatal cardiac diagnosis (preDx) and management requires accurate and complete fetal

echocardiograms and can reduce postnatal morbidity and mortality.

AimsTo evaluate the accuracy and benefit of preDx in fetuses referred for echocardiography in our

institution.

MethodsA retrospective study of fetuses referred for echocardiography between April 1999 and December 2008

was performed. The prenatal and postnatal congenital heart defect (CHD) diagnoses were reviewed

and allocated a modified Aristotle (modA) and Wald-score and then compared. The Wald-score at

final diagnosis was used to evaluate the benefit of preDx.

ResultsOf the 600 included fetuses, 311 (51.8%) had a normal heart and 289 (48.2%) cardiac pathology

(CHDs in 232 (80.3%); arrhythmia in 39 (13.5%); cardiomyopathy, myocarditis or cardiac tumor

in 18 (6.2%)).

The average prenatal modA-score (4.3±5.7) correlated well with the postnatal score (4.1±5.7) (average

difference of 0.2±1.7).

In 51 fetuses the postnatal course differed from the prenatal expectation, negatively in 20, (5 potentially

critically). PreDx was beneficial in 71.7% (430/600) of the fetuses.

Aortic arch anomalies presented the largest diagnostic problem.

The mortality rate for the entire cohort was 27.7%, 50.4% (118/232) for fetuses with CHDs. The

average modA-score in surviving babies with CHDs and normal karyotype was 6.8±5.1 and 13.0 ±3.3

in those that died, (13.1±2.9 in cases of pregnancy termination (TOP)).

ConclusionsPreDx was accurate, beneficial and the counseling appropriate, except in cases of suspected

aortic arch abnormalities. The mortality was high. The decision for TOP and outcome

correlated with the CHD severity.


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Accuracy and benefit of prenetal diagnosis

Introduction

Congenital heart defects (CHDs) are the most common congenital malformations with a reported

incidence of 8-10/1000 live births. About a third are severe and are responsible for significant mortality

and morbidity in the neonatal period and infancy1-4. The majority of CHDs can be diagnosed

prenatally by fetal echocardiography. Although the detection rate of ultrasound screening for CHDs

remains disappointing, not exceeding 50%, after adequate selection and referral to a specialized unit,

fetal echocardiography can yield a complete diagnosis in 85-95% of cases 3-12. Early knowledge of

cardiac pathology allows for counseling, monitoring of progression, initiation of patient-tailored

treatment (intra-uterine and postnatally) and delivery plans, as required5,13. Prenatal cardiac diagnosis

(preDx) has been shown to reduce the postnatal morbidity and mortality of some CHDs (especially

ductally dependent ones)14-21. Furthermore it enables an understanding of the progression of complex

lesions with possible complications such as arrhythmias and cardiac failure4,19,22,23. As the counseling,

management options and determination of fetal prognosis depend on a correct and complete diagnosis,

it is crucial that the fetal echocardiogram is as accurate as possible.

Evaluation of the accuracy and benefit of preDx is challenging, owing to the different pre and postnatal

spectra of disease (the prenatal spectrum tending to be more complex and severe), the difficulty in

the description of complex CHDs, the progression of lesions during pregnancy, the complexity of

the postnatal course and the influence of associated anomalies4,8-10,21,23-25. In the literature various

scoring systems have been proposed to assess preDx. The Medical-Aristole-Personal and eXtracardiac

score26, based on the surgical Aristotle score of Lacour-Gayet et al.27, expresses accuracy of preDx

including an evaluation of the complexity and impairment of the CHD. The scoring system of Wald

and Kennard28,29 classifies CHDs according to the availability of, and necessity for, an intervention

that could improve outcome and is therefore a measure of the potential benefit of preDx using fetal

echocardiography.

The aims of this study were to evaluate the accuracy of specialized fetal echocardiography in the

diagnosis of CHD in our institution, as well as to evaluate the appropriateness of the prenatal

counseling given and the benefit of preDx, using modifications of existing scoring systems.

Methods

A retrospective study of all fetuses referred to our Fetal Medicine Unit (FMU) for specialized

echocardiography between April 1999 and December 2008 was performed. Standard referral

indications for echocardiography at our FMU for echocardiography are an enlarged NT, suspicion of

cardiac pathology or an a-priori risk of a CHD.

The data collected included: referral indication; gestational age at cardiac diagnosis; prenatal

echocardiographic diagnosis; extra-cardiac anomalies; fetal karyotype; postnatal cardiac diagnosis


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Chapter 7

(based on the postnatal echocardiogram, cardiac catheterization report, operation report, MRI

report, or post mortem report); pre- and postnatal management (drug therapy, diagnostic cardiac

catheterization, interventions: cardiac catheterization or surgery) and outcome. Data was collected

from fetal echocardiography reports, the prenatal patient registry (ASTRAIA), internal electronic

patient records (ZORGDESKTOP), patient files and telephonic consults.

Modified Aristotle scoreComplex CHDs were classified according to the major defect present with the careful notation of

additional features such as ventricular size, vessel stenosis and the presence and size of septal defects.

Heterotaxia was classified separately. In order to consider the full implication of diagnoses made, we

chose to score the pre- and postnatal cardiac diagnoses using a modified Aristotle score, (modA-score),

based on the Aristotle score of Lacour-Gayet et al.27. Their Aristotle scoring method allows precise scoring

of congenital heart surgical procedures and takes into consideration the cardiac diagnosis, the surgical

procedure required (palliation/repair), operative complexity, repeated operations and co-morbidity.

The basic score, (1.5–15), reflects operative procedure complexity (1.5–5.9 correspond to level 1;

6.0–7.9 to level 2; 8.0–9.9 to level 3 and 10.0–15.0 to level 4 respectively). The basic score was added

to the complexity score, (reflecting additional complexity factors related to the specific patient), to get

the comprehensive score (≤25).

We made the following modifications to the Aristotle score: 1) a complexity score of 1 was added

for fetuses with Trisomy 18; 2) when a patient was expected to require (or had) more than one

operation, the Aristotle score attributed was that of the operation with the highest score. To include

the additional morbidity related to several operations, a score of 2 was added in such cases; 3) a score

of 1 was allocated for mild cardiac lesions not requiring surgery or catheter intervention; 4) a score

of 0 was allocated for a normal heart. A patent arterial duct and secundum atrial septal defects were

scored as a normal heart as these postnatal defects are physiological in the fetus. Cardiomyopathies

and primary arrhythmias were not scored as they generally do not require a surgical intervention.

A ventricular septal defect (VSD), for example, without any co-morbidity requiring one operation for

surgical closure was allocated a score of 6 while hypoplastic left heart syndrome in a fetus with Turner’s

syndrome was allocated 14.5 (Norwood operation scores the highest of the three operations expected

in the Fontan pathway) +2 (several operations expected) +0.5 (Turner’s syndrome) = 17.

The pre- and postnatal modA-scores were compared to evaluate the accuracy of the preDx and

appropriateness of the prenatal counseling.

Wald scoreThe pre- and postnatal diagnoses were also classified according to the availability of, and necessity

for, an intervention that could improve outcome according to Wald and Kennard28,29. The pre- and


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postnatal Wald classifications were then compared for differences to further evaluate the accuracy of

the counseling. The postnatal diagnosis Wald score was used to evaluate the benefit of preDx.

The Wald classification divides CHDs into 6 categories as follows:

A. Defect that would lead to intrauterine/neonatal death regardless of treatment.

B. Defect that is not satisfactorily reparable and can lead to serious disability, and for which the offer

of a termination of pregnancy would be discussed. This category includes those defects for which

a significant proportion of parents may elect to terminate the pregnancy.

C. Defect that is not satisfactorily reparable after birth, for which in-utero treatment reduces

morbidity.

D. Defect that can be diagnosed prenatally but for which evidence of benefit is lacking in terms of

cardiac survival following prenatal diagnosis.

Table 1. Cardiac diagnoses made pre- and postnatally.

Diagnoses No. Prenatal No. <24 weeks No. Postnatal

Normal heart 290 240 311Arrhythmia 40 5 39AVSD (+HLV) 30 (7) 19 30 (5)Ventricular Septal Defect 33 21 28Transposition of Great Arteries (DD) 20 (5) 13 23 (5)Double Outlet Right Ventricle (+HLV) 29 (11) 18 22 (8)Hypoplastic left heart syndrome 19 15 19Minor cardiac defects 30 20 19Cardiomyopathy/ myocarditis/ tumor 19 4 18Heterotaxia 19 12 18HRV (TA/TS, Ebstein’s anomaly, Critical Pulmonary) 14 (6, 3, 4, 2) 9 13 (6, 3, 3, 2)Stenosis, Pulmonary atresia + IVSTetralogy of Fallot (+ Pulmonary Atresia) 9 (3) 7 13 (6)Aortic arch abnormalities (CoA, IAA) 13 (8, 4) 6 11 (5, 5)Ventricular disproportion 10 3 8Abnormal Systemic Venous Return 6 4 7Double Inlet Left Ventricle 6 4 6Aortic valve abnormalities (Critical AS, Aortic atresia, 4 (2, 1, 1) 2 5 (3, 1, 1)Aortic regurgitation)Truncus Arteriosus 4 4 4Absent pulmonary valve syndrome 1 1 1Sinus venosus Atrial Septal Defect 1 0 1Giant right atrium 1 1 1Scimitar Syndrome 0 0 1TOTAL 600 408 600

AS, Aortic Stenosis; AVSD, Atrioventricular Septal Defect; CoA, Coarctation of the Aorta; DD, double discordance; HLV, Hypoplastic Left Ventricle; HRHS, Hypoplastic Right Heart Syndrome; HRV, Hypoplastic Right Ventricle; IAA, Interrupted Aortic Arch; IVS, intact interventricular septum; No., number; TA/TS, Tricuspid Atresia/ Stenosis.NB. Three cases of suspected Double Outlet Right Ventricle (DORV) with malposition of the great arteries turned out to be Transposition of the Great Arteries (TGA), one case thought to be TGA with HLV turned out to have HLHS and one case of TGA was missed. One suspected HLHS in a fetus with Trisomy 21 turned out to be a normal heart. Two cases of suspected Double Outlet Right Ventricle turned out to be Tetralogy of Fallot, One case of suspected Truncus Arteriosus turned out to be Tetralogy of Fallot with pulmonary atresia and one case of malaligment VSD turned out to be Truncus Arteriosus.


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Chapter 7

E. Defect that is not serious enough to require intervention in childhood, so antenatal detection is

not warranted.

F. Defect that if diagnosed prior to birth would lead to altered postnatal management for which

there is evidence that this improves prognosis.

As there may be some discussion about the allocation of these categories, we followed the

allocations as given in Wald et al29 strictly. We added an additional category to the original

classification:

G. Normal heart.

Results

Complete follow up was available in 600 (99.2%) of the 605 fetuses referred for specialized

echocardiography. The preDx was made before 24 weeks’ gestation (cut-off for legal TOP in The

Netherlands) in 408 (68%) fetuses. The referral indications, median gestational age at diagnosis,

incidence of extra-cardiac anomalies and outcome are depicted in Tables 2 and 3. The pre- and

postnatal cardiac diagnoses and the percentage diagnosed before 24 weeks gestation are shown in

Table 1. Postnatally a normal heart was found in 311 (51.8%) babies and 289 (48.2%) had cardiac

pathology. The cardiac diagnoses were: CHD in 232 (80.3%); primary arrhythmia in 39 (13.5%) and

cardiomyopathy, myocarditis or cardiac tumor in 18 (6.2%).

Accuracy

Modified Aristotle Score: A modA-score was allocated to 541 fetuses pre- and postnatally; 232 with

CHDs and 309 with a normal heart. Figure 1 shows the frequency of the different scores allocated

according to the final diagnosis stratified by karyotype.

Table 2. Indications for fetal echocardiography.

Referral indication No. Cardiac Pathology

Increased nuchal translucency 195 49Suspected cardiac anomaly 153 121Family history of CHD 93 25Arrhythmia 51 43Extra-cardiac abnormality 25 14Obstetrical indications* 24 14Unfavorable combination test** 18 6Advanced maternal age 14 7Insulin dependent diabetes 6 4Other causes of increased risk of CHD 21 6TOTAL 600 289

CHD, congenital heart defect; no., number; * IUGR, multiple gestation, fetal demise, post dates, pregnancy loss, placenta previa, vaginal bleeding; **First trimester serum test for PAPP-A, free β HCG and nuchal translucency measurement.


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The overall average modA-score was 4.3 ±5.7 prenatally and 4.1 ±5.7 postnatally and 9.1±5.1

prenatally and 9.3±5.2 postnatally for the fetuses with CHDs. The pre- and postnatal scores correlated

well with an average difference of 0.2±1.7 (range -10.8 to +16.5). In 442 (81.7%) of the 541 fetuses,

the pre- and postnatal scores were identical and in 99 (18.3%) they differed. In 55 of these 99 (55.6%)

fetuses, there was only a difference of 1 point between the pre- and postnatal scores. In 64/99 the

prenatal score was higher than the postnatal score. The 21 cases where a difference of 6 or more was

found between the pre- and postnatal modA-score are depicted in Table 5.

Wald Score: The same 541 fetuses were also allocated a pre- and postnatal Wald score. The correlation

between the pre- and postnatal Wald-score is shown in Figure 2. The pre- and postnatal score correlated

in 490/541 (90.6%) fetuses and differed in 51/541 (9.4%) fetuses. The postnatal outcome was worse

than expected in 20 fetuses (five cases where the postnatal management is crucial for benefit (Wald

category F), one case thought to be a mild defect that finally warranted allocation to category D and

Figure 1. Frequency of the mo-dified Aristotle scores allocated to the final diagnosis stratified for karyotype and the presence of a CHD.Abn = abnormal; CHD = con-genital heart defect; N = nor-mal; *Column 0-<1 has been scaled down by a factor of 10.

Table 3. Median gestational age at diagnosis and outcome per cardiac diagnosis

Cardiac Dx Median Abn ECA TOP IUD NND PM Alive gest age Dx Chr (%) (%) (%) (%) (%) (%) (range)

CHD 22 61

71 67 18 30) 34 114(n=232) (11-40) (30.6) (28.9) (7.8) (12.9 (14.7) (49.1)Arrhythmia 31

0 4 0 2 1 1 36

(n=39) (19-40) (10.3) (0) (5.1) (2.6) (2.6) (92.3)CMO 27

0 7 3 1 3 3 11

(n=18) 5(12-37) (38.9) (16.7) (5.6) (16.7) (16.7) (61.1)Normal Heart 18

27 50 28 8 2 10 273

(n=311) (11-40) (16.1) (9) (2.6) (0.6) (3.2) (87.8)Total 21

88/412 132 98 29 36 48 434

(n=600) (11-40) (22) (16.3) (4.8) (6) (8) (72.3)

Abn Chr, abnormal chromosomes; CHD, congenital heart defect; CMO,cardiomyopathy or cardiac tumour or myocarditis; Dx, diagnosis; ECA, extra-cardiac abnromalities; Gest age Dx, gestational age in weeks at diagnosis; IUD, intra-uterine death; NND, neonatal death; PM, all post mortem examinations; TOP, termination of pregnancy.


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Chapter 7

fourteen cases of minor CHDs (Wald category E) that were missed). In 29 cases the postnatal outcome

was better than prenatally anticipated (13 cases of suspected CHDs where a normal heart was found

postnatally, 11 cases of minor CHDs (VSD, mild pulmonary and aortic stenosis) incorrectly classified

as D or F, 4 cases allocated to category F instead of D and 1 case incorrectly allocated to category B

instead of D).

Fetal echocardiography was the most inaccurate in the diagnosis of aortic arch anomalies; 10 of the

18 (55.6%) cases with a difference of 6 or more between the pre- and postnatal modA scores fitted

into this category. Of the 22 prenatally suspected aortic arch abnormalities, (10 cases of ventricular

disproportion, 8 cases of suspected CoA and 4 cases of suspected aortic interruption), only 9 were

Table 4. Terminations of Pregnancy (TOP) per Wald category.

Wald Category No. Total No. TOP

A 2 0B 39 18C 0 0D 59 19E 47 2F 85 28G 309 28No score 59 3TOTAL 600 98

N,number, TOP ,Termination of Pregnancy.

Table 5. Major differences (≥6 points) between the pre- and postnatal modA scores.

Prenatal diagnosis Prenatal Postnatal diagnosis Postnatal modA score modA score

Normal heart 0 Interrupted aortic arch 10.8Normal heart 0 Transposition of Great Arteries 10Malalignment VSD 6 Truncus arteriosus 13VSD (minor defect) 1+0.5=1.5 VSD (swiss cheese, major 6+0.5+2=8.5+ del 22q11 defect, 2 operations) + del 22q11Ebstein’s anomaly 7 Ebstein’s anomaly (minor 1(major defect) defect, no surgery)10 cases of suspected CoA/ 8 x 8, 1x 10, 6 x ventricular 4 x 0IAA (ventricular disproportion); 1x 11 disproportion that 1x 0.5isolated (3); +VCSS (1); (1x abN Y resolved, (2 abN 5 x 1+VSD and VCSS (1); +VSD chromosome + chromosomes)(2); +abN chromosomes (2); 1x 47XY+21) 1 x VSD, ASD and VCSS;+extra-cardiac abnormality (1) 2x VSD; 1x VCSSSitus ambiguous, hypoplastic (14.5+2+2)= Situs inversus, borderline 7*left ventricle, mitral and aortic 18.5 left ventricle, mitral andstenosis, VCSS, CoA aortic stenosis, VCSS, CoAHypoplastic left heart (14.5+2+1)= Normal heart 1*syndrome + 47XY+21 17.5 + 47XY+21

abN, abnormal; ASD, atrial septal defect; CoA, coarctation of the aorta; del, deletion; IAA, Interrupted aortic arch; modA, modified Aristotle score; VCSS, vena cava superior sinistra; VSD, ventricular septal defect; * Norwood and Fontan operations not required as prenatally anticipated.


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confirmed postnatally. In 6 cases ventricular disproportion was seen postnatally which resolved as the

pulmonary resistance reduced, 4 had minor cardiac lesions (VSD in 3, one with a vena cava superior

sinistra (VCSS) and atrial septal defect and one with a VCSS and no right VCS), and 3 had normal

hearts. All four of the prenatally suspected cases of interruption of the aortic arch were confirmed

postnatally but one case of aortic interruption was missed.

Benefit

1) According to Wald et al29, categories B, C and F are diagnoses likely to benefit from preDx.

2) A termination of pregnancy (TOP) was performed in 28 fetuses with normal hearts (twelve of

these fetuses had normal chromosomes or unknown karyotype, assumed normal) due to the presence

of non-cardiac problems. A TOP was also performed in19 fetuses in Wald category D. In these 31

Figure 2. Correlation between the pre- and postnatal Wald scores.The diagonal grey blocks re-present correct prenatal evalu-ations, those with grey figures being those where the fetus be-nefited from prenatal diagnosis. The black blocks represent in-correct prenatal diagnoses that affected the fetus negatively.

Figure 3. Number of preg-nancy terminations performed stratified for karyotype and the presence of CHD and modA score. AbN, Abnormal; CHD, Con-genital Heart Disease; N, normal; TOP, Termination of Pregnancy


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Chapter 7

fetuses and those with an arrhythmia or in the cardiomyopathy group, prenatal diagnosis was also

assessed as having been beneficial.

3) In 225 (72.3%) of the 311 fetuses with a normal heart, (95 with an increased nuchal translucency),

the chromosomes were normal (140), or unknown but assumed normal (85), and no extra-cardiac

abnormalities were found allowing for a justifiable positive reassurance of the parents30.

PreDx was thus potentially beneficial in the above mentioned fetuses, ie in 437 (72.8%) of the 600

fetuses evaluated but actually beneficial in 430 (71.7%) of these fetuses.

One hundred and sixty six of the 600 (27.7%) fetuses died. Overall parents elected for a TOP in

16.3% (98/600) of the fetuses. A cardiac pathology was present in 71.4% (70/98) cases of TOP and

a postmortem examination followed in 36 (51.4%) fetuses. The average modA-score of babies with

CHD and normal karyotype was 6.6±5.1 in the survivors and 13.3±3.3 in those that died, (13.1±2.9

in those where a TOP was performed). Karyotyping was performed in 412 (68.7%) fetuses and was

abnormal in 88 (21.4%), a TOP followed in 44 (50%). The relationship between CHD, TOP and

karyotype is shown in Figure 3. The TOPs per Wald category is depicted in Table 4. The incidence of

TOP was higher in the more serious Wald categories.

Discussion

This study shows that fetal echocardiography in our FMU was accurate and preDx beneficial. The

counseling regarding expected postnatal course was appropriate in most cases, except for aortic arch

anomalies. PreDx was potentially beneficial in 72.8% fetuses seen and actually beneficial in 71.7%.

The mortality rate was high and the fetal outcome and the decision for TOP correlated with the

severity of the CHD.

A complete and accurate echocardiogram is fundamental to good preDx allowing for; appropriate

counseling about management options (biventricular versus palliative single ventricle repair or

TOP, where appropriate), emotional support of parents, detection of associated extra-cardiac and

chromosomal abnormalities23, medical therapy, fetal interventions (balloon valvuloplasty and balloon

atrial septostomy)31-33, and planning the type, time of and place of delivery and immediate postnatal

care5,13. Timely postnatal administration of prostaglandins in ductal dependant lesions and the

performance of a balloon atrial septostomy can be lifesaving14-20.

Evaluation of the accuracy and benefit of preDx is challenging owing to the complexity of many

CHDs, their progression/ regression during pregnancy, the complexity of the postnatal course and

the influence of associated anomalies. Prenatally detected CHDs tend to be more severe10, varying

from minor to lethal lesions such as an atrioventrciular septal defect (AVSD) with left isomerism and

complete heart block. Ventricular or main artery size, degree of valvular stenosis and co-morbidity may

have a profound impact on the prognosis and need to be considered when counseling families and

planning management4,21,23,31. Scoring systems assist in the evaluation of preDx by transforming the


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diagnoses into categories (Wald score)28,29 or numerals (modA-score) representing CHD complexity,

management, impairment and co-morbidity. All important aspects are thus evaluated. For example,

using the modA-score a complete AVSD gets a score of 9 whereas a trisomy 21 fetus with a complete

unbalanced AVSD and pulmonary stenosis requiring a Blalock-Taussig shunt and later a Fontan

operation gets a score of 12. However all minor lesions receive a score of 1 and single-ventricle lesions

where a standard Fontan route is required may receive a similar high modA-score. As the operative

implications and co-morbidity are responsible for the major impact preDx23,25, this shortcoming is

acceptable.

We used the Wald score to evaluate the benefit of preDx in our FMU. Although the real benefit of

preDx can only be estimated in a population study where postnatal outcome and prenatal detection of

CHDs is known in all cases, this was not the setting of the present study which focused on the outcome

of a preselected population (referred fetuses because of a suspicion of a CHD). The literature suggests

that preDx is beneficial, but this has only been shown for ductal dependant lesions14-20, Wald category

F29. In this study we could not measure the detrimental effect of lack of preDx in the not referred

fetuses born with undetected ductal dependent CHDs, therefore we defined benefit as the initiation

of intra-uterine therapy that could improve outcome as in arrhythmias and cardiomyopathy and

the supposed reduction in morbidity and mortality of the neonates with ductal dependent defects29.

Moreover we considered beneficial the reassurance given to parents in case of normal findings and the

offering of TOP as management option in cases of CHDs or after the detection of a chromosomal

and/or an extra-cardiac anomaly.

The study population consisted of fetuses referred for specialized echocardiography making this a selected

high-risk population with all echocardiograms performed by experienced fetal echocardiographers.

The aim of the study was to evaluate the accuracy of specialized fetal echocardiography in our FMU

and not to evaluate detection rates of prenatal screening for CHDs. Previous studies have reported

accuracy rates between 85-95% for specialized prenatal echocardiography in experienced hands4,5,11,12.

In this study accuracy was evaluated using the modA- and Wald scores28,29. Probably a numerical

score is more specific for this indication. Using the modA-score, preDx was accurate in 81.5% of

cases and in 10.2% the scores differed by only 1 point. The average difference in modA-score pre

and postnatally was 0.2 ±1.7. The pre- and postnatal Wald-scores on the other hand correlated in

90.6% and the postnatal outcome was worse than expected in only 3.7%. There were more positive

differences in modA-scores than negative ones implying a less complex postnatal diagnosis and better

prognosis than prenatally expected; or regression (spontaneous closure of VSDs) of lesions. Complex

lesions, however may show a progressive and complicated course prenatally4,22,23,34-36, making an

exact prediction of the postnatal condition difficult, especially when the diagnosis is made in early

pregnancy. When counseling parents the usual and most likely outcome should be explained but the

worst and best outcomes also need to be addressed23 so that parents and medical staff are also prepared

for the worst eventual scenario.


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Chapter 7

Three major CHDs were missed; transposition of the great arteries, truncus arteriosus and interrupted

aortic arch. Furthermore only 9 of the 24 prenatally suspected aortic arch abnormalities were confirmed

postnatally. Despite the finding of ventricular disproportion in 75% (18/24) of fetuses with CoA or

interruption by Allan et al.37, the sensitivity of this finding in our study was only 40.1%, (9/22).

The identification of an abnormal ratio of aorta to pulmonary artery size, a discrete posterior shelf,

(progressive) hypoplasia of the transverse arch and isthmus, a duct to isthmus ratio >0.75 and reversed

flow in the distal arch may help in the prenatal diagnosis of CoA37-40. Nonetheless the antenatal

diagnosis of CoA remains challenging, if not impossible in some cases, particularly when ventricular

disproportion presents in late gestation39,41.

The mortality rate of the entire cohort was 27.5% (165/600), 50.4% (117/232) in all fetuses

with CHDs and 40.1% (67/167) in those with normal chromosomes, confirming the high

mortality rate reported by others9,25,42. The preDx was made before 24 weeks’ gestation (cut-off

for legal TOP in The Netherlands) in 408 (68%) fetuses, allowing for TOP as a management

option. The modA-scores were higher and Wald categories more severe in the fetuses with an

isolated CHD where parents opted for a TOP, reflecting the appropriateness of this decision.

In conclusion the preDx in our FMU was accurate and beneficial and the counseling appropriate,

except for cases of aortic coarctation. The mortality rate was high in these high-risk fetuses and the

fetal outcome and the decision for TOP correlated with the severity of the CHD.


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