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Fetal heart and increased nuchal translucency: anatomical, pathophysiological, diagnosticand clinical aspects

Barker 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, IB Mathijssen, E Pajkrt, J Ottenkamp, CM Bilardo

Prenat Diagn.in revision.

7A: Audit of 10 years of referrals for fetal echocardiography

Chapter 7

18175_Clur binnenwerk.indd 89 18-10-2010 14:00:16

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Abstract

ObjectivesEvaluation of trends in time, indications, diagnoses, co-morbidity and outcome of fetuses referred to

a tertiary center for echocardiography.

MethodsData were gathered on all referrals for fetal echocardiography between April 1999-2009.

Results623 fetuses were included; 301, (48%), had cardiac pathology.

243/301 (81%) had congenital heart defects (CHDs), mostly in the severe spectrum. 26% (63/243)

fetuses with CHDs had chromosomal anomalies. The chromosomally normal fetuses with CHDs had

a mortality rate of 43% (77/180) and 23% (41/180) had extra-cardiac anomalies.

The termination of pregnancy (TOP) rate for all cardiac pathology was 24.9% (75/301) and for

CHDs it was 29.6% (72/243). The TOP rates for CHDs diagnosed before 19 and 24 weeks’ gestation

were 61% (28/46) and 44% (68/155), respectively.

An increase in referrals followed the introduction of a national screening program, (nuchal translucency

(NT) and routine ultrasound screening). The main referral indication was an increased NT (>95th

percentile), (32% of cases). CHDs were found in 81/239 (34%) fetuses with an increased NT.

ConclusionsThe increased NT is a strong marker for CHDs. Referral indications for fetal echocardiography were

appropriate, (almost 50% had cardiac pathology). The mortality was high. Fetal outcome and TOP

decision correlated with CHD severity and presence of co-morbidity.


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Prenatal diagnosis audit

Introduction

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

incidence of 8-10/1000 live births, and about a third of these CHDs are severe (Dolk and Loane,

2001; Hoffman and Kaplan, 2002; Vaartjes et al., 2007). They are responsible for significant mortality

and morbidity in the neonatal period and infancy (Dolk and Loane, 2001; Nelle et al., 2009),

with an overall mortality rate (perinatal and termination of pregnancy (TOP) rate) in Europe of

0.7/1000 births (Dolk and Loane, 2001). The majority of CHDs can be diagnosed prenatally by fetal

echocardiography. After adequate selection and referrals to specialized units a prenatal detection rate

of 85-95% is possible in experienced hands (Meyer-Wittkopf et al., 2001; Tegnander and Eik-Nes et

al., 2006; Berkley et al., 2009; Nelle et al., 2009).

As ultrasonographic skills improve, referrals for specialized fetal echocardiography owing to suspicion

of cardiac pathology increase. For efficient resources allocation, verification of referral indications is

required. A knowledge of fetal outcome is important to adequately counsel parents.

The aim of this study was to document the final cardiac diagnoses, co-morbidity and outcome in fetuses

referred for specialized fetal echocardiography with special attention to trends in time, especially after the

introduction of a Prenatal Screening program including the nuchal translucency (NT) measurement, as

part of the combined test, and routine ultrasound examination at 20 weeks’ gestation.

Methods

A retrospective study of all fetuses referred to our Fetal Medicine Unit for fetal echocardiography

between the 1st of April 1999 and 31st March 2009 was performed. The data collected included:

referral indication; gestational age at cardiac diagnosis; NT measurement; extra-cardiac anomalies; fetal

karyotype; cardiac diagnosis (based on the pre- and 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 retrieved from fetal echocardiography reports, the prenatal patient database

(ASTRAIA), electronic hospital patient records (ZORGDESKTOP), patient files and telephonic

consultations.

Complex CHDs were classified according to the major defect present; heterotaxia was classified

separately.

Results

A total of 628 fetuses underwent specialized echocardiography. The examinations were performed by

a Fetal Medicine specialist and a Pediatric Cardiologist. During the study period an increase in the

number of referrals per year was recorded, (Figure 1). The most common referral indications were:


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increased NT measurement (>95th percentile) in 200 (32.1%); a suspected CHD in 169 (27.1%);

positive family history of a CHD in 94 (15.1%) and suspected fetal arrhythmia in 52 (8.4%). The

referral indications are listed in Table 1.

Complete follow up was available in 623 (99.2%) fetuses and these were considered in the analysis.

The five fetuses where no follow-up data was available were excluded from data analysis.

Cardiac pathology was diagnosed in 301/623 (48.3%) fetuses. The cardiac diagnoses were: CHD in

243 (80.7%); primary arrhythmia in 39 (13%) and cardiomyopathy/ myocarditis/cardiac tumor in

19 (6.3%). The cardiac diagnoses are shown in Table 2. Postnatally a normal heart was found in 322

(51.7%) babies. The prenatal diagnosis was made before 19 and 24 weeks’ gestation (cut-off for legal

TOP in The Netherlands) in 210 (33.7%) and 412 (66.1%) of the 623 included fetuses respectively.

Karyotyping was performed in 425 of the 623 fetuses (68.2%) and was abnormal in 91 (21.4%).

25.9% (63/243) of the fetuses with CHDs had an abnormal karyotype and 69.2% (63/91) of those

with an abnormal karyotype had CHDs. Table 2 shows the chromosomal abnormalities found along

with the cardiac diagnoses and the TOP frequency per karyotype. Trisomy 21 was the most commonly

detected aneuploidy (49/91=53.9%).

Extra-cardiac anomalies were found in 134 fetuses (21.5%), 26.9% of which had abnormal

chromosomes. Of the fetuses with CHDs, 29.2% had extra-cardiac abnormalities, 54.9% were

chromosomally normal or assumed normal and 71.8% subsequently died, (Table 3). The extra-

cardiac abnormalities associated with mortality in fetuses with a normal heart were: a chromosomal

abnormality (18), hygroma colli/ very large nuchal translucency (7), non-cardiac fetal hydrops (3),

diaphragmatic hernia (2), bilateral hydrothoraces (1), ventriculomegaly (1), Apert syndrome (1),

Gauchers disease (1) and omphalocoele (1).

Figure 1. Trends in referrals for echocardiography over a ten year period.Black, data from the reported cohort; Grey, data from 1st April 2009 until 31st March 2010. Note the increase in referrals around the beginning of 2007 when the 20 week scan became available for all pregnant wo-men.


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The mortality rate for the whole cohort was 28.1% (175/623) and the TOP rate was 16.7% (104/623).

72.1% (75/104) of the TOPs were for cardiac pathology. The outcome of the 243 fetuses diagnosed

with CHDs is shown in Figure 2 and Table 3. The overall mortality rate for fetuses with CHDs

was 51.4% and the TOP rate was 29.6% (72/243), (46% in the chromosomal abnormality cases).

The TOP rate for CHDs diagnosed before 19 and 24 weeks’ gestation was 61% (28/46) and 44%

(68/155), respectively. A postmortem examination was performed in 37 (54.4%) of these fetuses,

(Table 3.). There were 36 perinatal deaths. Surgery or an interventional heart catheterization was

performed on 82 babies. Of the surviving 118 babies, 24 still require cardiac medication and 3 have

had a pacemaker implanted.

Diagnoses made in the cardiomyopathy group included the following; Rhabdomyomata (2),

Cardiomyopathies (10) (Diabetes mellitus in mother-3, CDG type 1A-2, Gauchers disease-1,

Cytochrome C Oxygenase deficiency-1, as yet unspecified mitochondrial respiratory transport chain

defect-1, endocardial fibroelastosis-1, familial dilated cardiomyopathy-1), Myo/pericarditis (4),

Cardiac failure due to extra-cardiac shunt (3), (Vein of Galen malformation-1, placental vascular

tumour-2). Fourty two percent of the fetuses in the cardiomyopathy group died. No chromosomal

abnormalities were detected in the 9 fetuses in this group that were tested. Of the 11 surviving babies

one still requires cardiac medication, (Table 3.).

The diagnosed arrhythmias included: Supra-ventricular tachycardia (16), atrial/ ventricular ectopy

(15), atrial flutter (5) and complete heart block (3). The mortality rate for arrhythmias was 7.7%

Table 1. Indications for fetal echocardiography and cardiac pathology found per indication.

Referral indication No. % Cardiac % Referrals Pathology Cardiac Pathology

Increased nuchal translucency 200 32.1 50; (47 CHD) 16.6Suspected cardiac anomaly 169 27.1 132 43.8Family history of CHD 94 15.0 25 8.3Arrhythmia 52 8.3 43 14.2Extra-cardiac abnormality 25 4.0 14 4.7Obstetrical indications* 24 3.9 14 4.7Unfavorable combination test† 18 2.8 6 1.9Advanced maternal age 14 2.3 7 2.4Insulin dependent diabetes 6 1.0 4 1.3Chromosome defect in earlier pregnancy 5 0.8 0 0Auto-immune disease in mother 3 0.5 2 0.7Echo markers for increased risk 3 0.5 2 0.7Maternal drug usage 3 0.5 2 0.7Twin pregnancy 3 0.5 0 0Other 2 0.3 0 0Consanguinity 1 0.2 0 0Parental chromosomal translocation 1 0.2 0 0TOTAL 623 301

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


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(3/39). Of the 36 surviving babies 8 (22.2%) still require cardiac medication and 1 required a neonatal

radio-frequency ablation for refractory arrhythmias postnatally, (Table 3.).

Of the 322 fetuses with a normal heart, 39 (12.1%) died. A TOP was performed in 29 fetuses, due to

an abnormal karyotype in 18 and due to an expected poor prognosis (deteriorating hydrops in 3, very

large NT in 4 and an extra-cardiac abnormality in 4) in the remaining 11, (Table 3.).

An increased NT was the referral indication in 200 (32.1%), but was actually increased in 239 of the

383 (62.4%) fetuses where it was measured (median 3.2mm, range 0.2–22mm). Figure 3. shows the

Table 2. Frequency of cardiac diagnoses and chromosomal defects identified.

Diagnoses No. AbN Tri 21 Tri 18 Del 45,X Other Chro 22q11.2

Normal heart 322 28 19* 4 2 3†Arrhythmia 39 0AVSD 30 20 19 1Ventricular Septal Defect 28 9 3 2 1 3‡Transposition of Great Arteries 23 1 1 ††Double Outlet Right Ventricle 23 9 7 1 1 §Hypoplastic left heart syndrome 22 5 1 2 2¶Minor cardiac defects 20 3 3Cardiomyopathy/ myocarditis/ tumor 19 0Heterotaxia 19 0Hypoplastic Right Ventricle 13 1 1Tetralogy of Fallot (including PA) 13 5 1 4Aortic arch abnormalities 12 2 1 1Ventricular disproportion 8 4 3 1**Abnormal Systemic Venous Return 7 1 1‡‡Double Inlet Left Ventricle 8 0 Aortic valve abnormalities 5 1 1§§Truncus Arteriosus 6 2 2Pulmonary Atresia + IVS 2 0Absent pulmonary valve syndrome 1 0Sinus venosus Atrial Septal Defect 1 0Giant right atrium 1 0Scimitar Syndrome 1 0TOTAL 623 91 49 16 7 6 13

* Mos 48,XX,+7,+21[2]/47,XX,+21[8] in 1 case; † 46,XY,der(10p); Triple X Syndrome; Klinefelter Syndrome; ‡ 47,XY,+i(12)(p10)[9]/46,XY[1]; 46,XY,r(14); Trisomy 13; § 46,XX,del(5)(q31q33)¶ 46,XY,rec(18)dup(18q)inv(18)(p11.2q21)mat; 46,XX,del(18)(p11.2); **46,X,r(Y)(p11.32q11.1)†† 46,XX,del(10)(p21.1); ‡‡ Mos 47,XX,+20[3]/46,XX[12]; §§ 46,XX,der(14)t(1418)(p11;q11).AS, Aortic Stenosis; AVSD, Atrioventricular Septal Defect; CoA, Coarctation of the Aorta; HLV, Hypoplastic Left Ventricle; HRV, Hypoplastic Right Ventricle; IAA, Interrupted Aortic Arch; IVS, intact ventricular septum; N0.,number; PA, pulmonart atresia, TA/TS, Tricuspid Atresia/ Tricuspid Stenosis.


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Table 3. Outcome per cardiac diagnosis

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

CHD (n=243) 22.4 63 71 72 18 32 37 118 (11-40) (29.2) (29.6) (7.4) (13.2) (15.2) (48.6)Arrhythmia (n=39) 31.4 0 4 0 2 1 1 36 (19-40) (10.3) (0) (5.1) (2.6) (2.6) (92.3)CMO (n=19) 28.2 0 8 3 1 3 3 11 (12-37) (42.1) (15.8) (5.3) (15.8) (15.8) (57.9)Normal Heart (n=322) 18.4 28 51 29 8 2 10 283 (11-36) (15.8) (9) ( 2.5) (0.6) (3.1) (87.9)Total (n=623) 21.4 91/ 425 134 104 29 38 51 448* (11-40) (21.5) (16.7) (4.7) (6.1) (8.2) (71.9)

Abn Chr, abnormal chromosomes; CHD, congenital heart defect; CMO. cardiomyopathy/ cardiac tumor/ myocarditis; Dx, diagnosis; ECA, extra-cardiac abnormalities; Gest age Dx, gestational age in weeks at diagnosis; IUD, intra-uterine death; NND, neonatal death; PM, post mortem examination; TOP, termination of pregnancy,*4 deaths occurred after the neonatal period.

Figure 2. Flow chart showing the outcome of the 243 fetuses with Congenital Heart Disease.AbN, abnormal; CHD, Congenital Heart Disease; IUD, intra-uterine death; meds, medication; preOK,before surgery; TOP, termination of pregnancy.


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Chapter 7

outcome of the 239 fetuses with an increased NT. Cardiac pathology was diagnosed in 36% (86/239).

In 34% (82/239) this was a CHD (57% (47/82) of these had normal chromosomes).

Discussion

This study shows that the referrals for specialized fetal echocardiography to our Fetal Medicine Unit

are appropriate as almost half of the referred fetuses (48.3%) had cardiac pathology. The mortality

rate in this cohort (28.1% overall and 51.4% for CHDs) was high and there was a high co-morbidity

rate (29.2% incidence of extra-cardiac anomalies and 25.9% incidence of abnormal chromosomes in

fetuses with CHDs). An increased NT was the main referral indication, accounting for almost a third

of the cases. Its role as a strong marker for CHDs is confirmed by the fact that it was increased in

33.7% of the fetuses with CHDs.

The goal of the study was not to verify accurateness of prenatal diagnosis of CHDs, but to report on

the final cardiac diagnosis and outcome of a group of fetuses referred for echocardiography to a third

level centre.

Figure 3. Flow chart showing the outcome of the 239 fetuses with an increased Nuchal Translucency (>95th percentile). AbN, abnormal; CHD, Congenital Heart Disease; CMO, cardiomyopathy, ECA, extra-cardiac abnorma-lity; IUD, intra-uterine death; NND, neonatal death; TOP, termination of pregnancy.


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The spectrum of encountered CHDs in this series is very similar to other published series with the

majority falling into the more severe and complex spectrum (Bull, 1999; Garne et al., 2001; Stoll et

al., 2002; Khoshnood et al., 2005; Tegnander et al., 2006; Russo et al., 2008).. This and the presence

of co-morbidity has a profound impact on the prognosis and needs to be taken into consideration

when counseling families (Allan and Huggon, 2004; Vesel et al., 2006; Kaguelidou et al., 2008; Nelle

et al., 2009) and planning management decisions. The 26% incidence of chromosomal abnormalities

in the presence of CHDs is also similar to the 25 to 42% reported in other studies (Allan et al., 1994;

Tennstedt et al., 1999; Paladini et al., 2002). Although chromosome analysis was advised in all cases

of prenatally diagnosed CHDs, 22q11 deletion was only looked for in cases of cono-truncal defects.

In this study the overall mortality rate for chromosomally normal fetuses with CHDs is similar to

other reports (Bull, 1999; Russo et al., 2008, Song et al., 2009). The prenatal diagnosis was made

before 19 and 24 weeks’ gestation (cut-off for legal TOP in The Netherlands) in 33.7% and 66.1%

of the 623 included fetuses respectively, allowing for TOP as a management option in these fetuses.

Interestingly, the TOP rate for CHDs in our cohort, (29.6% overall and 61% when the diagnosis was

made before 19 weeks’ gestation), was lower than the 50-56% overall and 70-75% when the CHD was

diagnosed before 19 weeks’ gestation reported for the United Kingdom (Bull, 1999; Allan, personal

communication 2010). This difference possibly reflects the attitude of parents towards acceptance of

a child with an anomaly, where cultural, religious and social differences play an important role (Garne

et al., 2001; Brick and Allan, 2002; Khoshnood et al., 2005).

Over the past ten years a general increase in the detection rate of CHDs at routine ultrasound

screening has been observed (Bull, 1999; Stoll et al., 2002; Khoshnood et al., 2005; Tegnander et al.,

2006; Russo et al., 2008; Dolk and Loane 2009). However, detection rates in routine settings remain

disappointing with 50% of major CHDs still being missed. Therefore efforts towards increasing the

skills of ultrasonographers are mandatory (Tegnander et al., 2006). In the Netherlands the 20 week

scan has officially only been available since 2007. This has produced a dramatic increase in referrals

with suspicion of a CHD. Over four years the referrals to our FMU for fetal echocardiography in fact

have doubled, (from 69 in 2005 to 123 in 2008).

A new potential for early detection of CHDs is offered by first trimester screening and NT measurement

(Carvalho, 2004; Clur et al., 2009). In this series an increased NT was the most common referral

indication (32.1%) and led to the diagnosis of 16.6% of the fetuses with cardiac pathology, performing

second to the referral indication ‘suspicion of a cardiac anomaly’ which led to the diagnosis of 43.8%

of the fetuses with cardiac pathology. However NT is a marker for CHDs, whereas suspicion is

based on abnormal cardiac images. Unfortunately in the Netherlands the association between the

increased NT and CHDs is not addressed in the counseling for first trimester screening. Many women

do not consider Trisomy 21 a reason for termination, leading to a remarkably low uptake for NT

measurement (combined test) in the Netherlands (approximately 25%). However, with increasing

awareness of the relationship between an increased NT, abnormal ductus venosus flow and tricuspid


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Chapter 7

regurgitation at 11-14 weeks’ gestation and CHDs (Bilardo et al., 2001, 2010; Huggon et al., 2003;

Maiz et al., 2008; Clur et al., 2009; Timmerman et al., 2010), a shift of referrals for echocardiography

to earlier in pregnancy can be expected in future. Earlier diagnosis of CHDs may be associated with

a higher incidence of TOP potentially resulting in a reduction in the postnatal incidence of CHDs

(Bull, 1999). The advantage of earlier diagnosis is that, should the parents decide to terminate the

pregnancy, this can be performed more safely (Yagel et al., 2007) and with less long-term psychological

sequelae (Korenromp et al., 2005). It is unclear whether earlier diagnosis of CHDs actually has an

impact on the postnatal incidence of CHDs as the prenatal spectrum of CHDs tends to be more

severe and many of the cases where a TOP is performed may not survive to term if undiagnosed.

However the significant developments in prenatal and perinatal care and improved surgical outcome

with reduced mortality and better prognosis of babies born with CHDs should also be addressed in

prenatal counseling.

The responsibility of health systems is on one hand to improve the efficiency of prenatal diagnosis

through teaching programs and on the other hand to correctly inform health care providers (midwives

and sonographers) and patients on new diagnostic possibilities including the NT measurement,

focusing on primary prevention, early treatment (including improved prenatal diagnosis) and the

ongoing care of children and adults with CHDs if they are to reduce the burden of CHDs.

In conclusion the referrals of fetuses for prenatal echocardiography were appropriate in our institution.

The cardiac diagnoses are not different from other series and the lesions tended to be in the more severe

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

the severity of the CHD and the presence of co-morbidity. The increased NT was confirmed as a

strong marker for cardiac pathology in early pregnancy.


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