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 Table of Contents  
ORIGINAL ARTICLE
Year : 2019  |  Volume : 7  |  Issue : 3  |  Page : 123-128

Spectrum of antenatally diagnosed cardiac anomalies in a tertiary referral center of North India


Department of Maternal and Reproductive Health, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Date of Web Publication30-Sep-2019

Correspondence Address:
Dr. Neeta Singh
Department of Maternal and Reproductive Health, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/heartindia.heartindia_32_19

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  Abstract 


Background: Congenital heart disease (CHD) is the most frequent fetal anomaly seen during pregnancy. Prenatal diagnosis of CHD helps in ascertaining the prognosis of fetus and planning management. Early diagnosis and prompt intervention after delivery helps to prevent serious morbidity and mortality.
Objective: To evaluate the type and pattern of fetal congenital cardiac anomalies to plan appropriate intervention.
Methods: This was a retrospective study of all fetal cardiac anomalies detected on antenatal ultrasound in pregnant women at a tertiary care hospital for high-risk pregnancy in northern India. A detailed clinical evaluation and ultrasound of the fetus to look for all malformations including detailed cardiac evaluation was done in all pregnant patients. All women were thoroughly counseled regarding the malformations, possible causes, prognosis, and need for fetal karyotyping.
Results: A total of 782 fetal malformations were observed during the study period, of which 211/782 (26.9%) fetuses were found to have cardiac malformation. 165/211 (78.2%) were isolated CHD and 46/211 (21.8%) had associated anomalies. The most common defect was ventricular septal defect (37/211, 17.5%) followed by fetal arrhythmias (29/211, 13.7%), hypoplastic left heart syndrome (27/211, 12.8%), tetralogy of Fallot (21/211, 9.9%), atrioventricular septal defect (18/211, 8.5%), and double outlet right ventricle (14/211, 6.6%). 96/211 (45.5%) couples opted for prenatal invasive testing, of which 14/96 (14.5%) fetuses were found to have abnormal genetic studies, most common being down syndrome.
Conclusion: The problem of CHD is of profound importance, and suspected cardiac anomaly is the main reason for referral. After identification of CHD, couple should be offered genetic studies and detailed counseling, and timely cardiac intervention should be planned when indicated.

Keywords: Congenital heart disease, fetal anomalies, prenatal diagnosis


How to cite this article:
Yadav S, Singh N, Pradhan M. Spectrum of antenatally diagnosed cardiac anomalies in a tertiary referral center of North India. Heart India 2019;7:123-8

How to cite this URL:
Yadav S, Singh N, Pradhan M. Spectrum of antenatally diagnosed cardiac anomalies in a tertiary referral center of North India. Heart India [serial online] 2019 [cited 2019 Oct 22];7:123-8. Available from: http://www.heartindia.net/text.asp?2019/7/3/123/268170




  Introduction Top


Congenital heart disease (CHD) is the most common congenital abnormality and accounts for 28% of all congenital malformations.[1] It remains a significant cause of neonatal morbidity and mortality in the world.[2] Asia has the highest birth prevalence of CHD estimated at 9.3/1000 live births which is highest globally.[3] Prevalence studies of CHD are necessary to establish the geographical trends which may help to raise awareness for early medical and surgical intervention. Determination of case burden of CHD will help in appropriate change in health policies. With the advent of high-resolution ultrasound and increasing awareness, more and more cases of CHD are being diagnosed antenatally. Etiology of CHD is multifactorial, and recurrence in the family suggests genetic basis.[4] The type of defect can range from simple defect to severe malformation. Clinical presentation varies according to the severity of defect which must be identified antenatally to avoid serious morbidity and mortality postnatally. Prenatal diagnosis of cardiac disease provides an opportunity to know the prognosis so that termination of pregnancy or appropriate intervention could be planned before and after delivery. It may be associated with chromosomal aneuploidies, single gene mutation, deletions, and duplications.[5] Accurate diagnosis of the underlying genetic cause if present, helps to ascertain the prognosis and recurrence risk, which aids in appropriate counselling. Unfortunately, facilities for detecting the malformation and antenatal genetic testing are lacking in many parts of developing countries. There is paucity of data on cardiac anomalies of fetus in Indian population, and various studies done in the children could be an underestimation of the fetal incidence due to neonatal mortality in certain undiagnosed conditions. We conducted this study to highlight the diversity of congenital cardiac defect in our population. Our aim is to provide insight in this matter so that appropriate intervention could be planned to minimize morbidity and mortality.


  Methods Top


This was a retrospective study conducted from January 2014 to June 2019 in the Department of Maternal and Reproductive Health at Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, which is a tertiary referral hospital for high-risk pregnancies in North India. All antenatal women who were found to have cardiac anomaly on ultrasound were included in the study. A detailed history of the women including drug exposure, fever with rash, presence of diabetes or epilepsy, family history, and history of previous baby with CHD was taken. Detailed ultrasound evaluation of the fetus was done to look for all malformations using Voluson S8 (GE Healthcare, UK) Ultrasound machine. In addition to the standard 4-chamber view, extended cardiac examination incorporating the outflow tracts and systemic and pulmonary venous inflow was done. If there was more than one cardiac lesion, it was put in the category of the most important lesion and only 1 diagnosis was recorded for each case. Every woman was thoroughly counseled regarding the malformations, possible causes, prognosis, and need for fetal karyotyping antenatally or from cord blood after delivery.


  Results Top


A total of 782 fetal malformations were observed during the study period. Of them, 221/782 (26.9%) fetus had cardiac malformation. Most common indication for referral was suspected cardiovascular malformation in 161/211 (76.3%). This was followed by extracardiac anomaly and raised risk on serum screening. The indications for referral are presented in [Table 1].
Table 1: Common indications for referral of pregnant woman with fetal CHD

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Of 221 fetuses with cardiac malformation, 165/211 (78.2%) had isolated cardiac malformation and 46/211 (21.8%) were associated with extracardiac anomalies. Central nervous system malformation was the most common extracardiac anomaly followed by gastrointestinal malformation.

Mean maternal age was 28.32 ± 3.75 years (range 20–39 years). 70/221 (31.7%) women were primigravida. 11/211 (5.2%) women had uncontrolled diabetics in the periconceptional period, 10 (4.7%) women had immunological disorder, and one was on antiepileptic drug (sodium valproate). Mean gestational age at the time of presentation was 24.18 ± 5.26 weeks (range 14–38 weeks). 56/211 (26.5%) fetuses were detected to have malformations at <20 weeks which is the legal limit of termination of pregnancy in India. Rest were diagnosed after 20 weeks of gestation.

Spectrum of cardiac malformation diagnosed [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12] is presented in [Table 2]. Most frequent malformation was ventricular septal defect (VSD) which was seen in 37/211 (17.5%) followed by fetal arrhythmias (29/211, 13.7%), hypoplastic left heart syndrome (HLHS) (27/211, 12.8%), tetralogy of Fallot (TOF) (21/211, 9.9%), atrio VSD (AVSD) (18/211, 8.5%), and double outlet right ventricle (14/211, 6.6%).
Figure 1: Congenital heart block

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Figure 2: Supraventricular tachycardia (Fetal heart rate showing 270)

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Figure 3: Ventricular septal defect on color Doppler

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Figure 4: Transposition of great arteries

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Figure 5: Hypoplastic left heart syndrome

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Figure 6: Hypoplastic left heart syndrome (color Doppler)

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Figure 7: Tetralogy of Fallot (4 chamber showing ventricular septal defect)

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Figure 8: Tetralogy of Fallot (3-vessel view showing pulmonary stenosis)

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Figure 9: Double outlet right ventricle

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Figure 10: Atrioventricular septal defect

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Figure 11: Left ventricular diverticulum with pericardial effusion

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Figure 12: Left ventricular diverticulum (color)

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Table 2: Distribution of various congenital heart defect

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Prenatal invasive testing was offered in all women. 96/211 (45.5%) couples opted for prenatal invasive testing, of which 14/96 (14.5%) fetuses were found to have abnormal karyotype, most common being down syndrome. One fetus with cardiac defect along with upper limb abnormality was found to have Holt–Oram syndrome, two had multiple anomalies and were found to have VACTERL association which is a disorder that affects many body systems (VACTERL stands for vertebral defect, anal atresia, cardiac anomaly, trachea-oesophageal fistula with oesophageal atresia, renal and limb anomaly association. One with pulmonary stenosis was found to have Noonan syndrome, and both rhabdomyoma were found to have tuberous sclerosis.

Of 29 fetuses having dysrhythmia, 14 fetuses had heart block, 9 had extrasystole, and 6 had supraventricular tachycardia (SVT). Of 14 cases of congenital heart block, 4 were due to structural malformation and 10 were due to maternal Ro and La autoantibodies. Four fetuses with complete heart block were hydropic at the time of presentation and had intrauterine death. 5 of 6 fetuses with SVT were managed with digoxin and 1 was managed with digoxin and amiodarone with good outcome.


  Discussion Top


30%–50% of fetal CHD can be detected in four-chamber view of the fetus.[6] Addition of ventricular outflow tract view and 3-vessel view allows the diagnosis of great artery abnormalities and increases the detection rate to 70%–90%.[7],[8] Thus, we utilized the combined use of different fetal echocardiography views for the diagnosis of CHD. This is of paramount importance when termination of pregnancy is considered. Ozkutlu et al. compared their past and recent study and found considerable improvement in the sensitivity of fetal echo over the years (sensitivity: 78%, specificity: 100%).[9]

Our result suggests that around one-third of total malformation in our study group comprised of CHD. Suspected cardiac anomaly in the low-risk population was the most common referral when compared to other indications. This highlights the importance of anomaly scan as most of the anomalies occurred in low-risk population. Identification of cardiac anomaly prompts for detailed scan and can help in finding other anomalies which helps in prenatal counseling. In our study, 21.85% of cardiac malformations were associated with extracardiac malformation. The presence of associated anomaly may help in clinching the diagnosis of genetic syndrome which warrants detailed counseling and may require parental testing.

73.5% of CHD was diagnosed after 20 weeks in our study which is beyond the legal limit of termination of pregnancy in our country, thus causing significant mental agony to the parents and contributing to neonatal morbidity and mortality. Thus, we emphasize that fetal cardiac examination should be a routine part of prenatal ultrasonographic examination so that termination of pregnancy is possible when desired, particularly in complex cases. In order to achieve this, a nationwide training program is needed in our country.

We found most common prenatally detected cardiac anomaly to be VSD followed by HLHS and TOF. Tegnander et al. in Norway found AVSD (21.6%) as the most common CHD followed by transposition of great arteries (17.5%), while VSD was in only 9.3% of CHD.[10] Eronen et al. found VSD as the most common cardiac anomaly in Finland followed by HLHS similar to our study,[11] but the incidence of TOF was less in their study which is the third most common cardiac anomaly in our study. Wei et al. from China found single ventricle as the most common anomaly followed by AVSD while HLHS was not in top five types of CHD.[12] This difference in the pattern of CHD may be because of ethnic and geographic variation.

Only 96/211 (45.5%) couples opted for prenatal testing which points to poor acceptability of genetic testing in our population in spite of thorough counseling. This may be because of educational and socioeconomic reasons and highlights the need for increasing awareness regarding the need for the same which is essential in decision-making. 14.5% fetuses of those tested were found to have chromosomal abnormality.

If there are other sonographic abnormalities along with cardiac anomaly, a careful attention should be paid to the maternal medical and drug history and look for genetic syndromes. If there is perinatal death or termination of pregnancy, we should try to store the DNA, and a post-mortem examination should be offered to the parents to exclude the possibility of subtle congenital anomalies which might help in the diagnosis of a genetic syndrome.

Severity of anomaly, presence of associated extracardiac anomalies, karyotype, and availability of postnatal treatment are the factors determining the decision of couple. Neonates that require patency of ductus arteriosus benefit with early postnatal interventions (prostaglandin E1) to prevent closure of ductus. Prenatal diagnosis of conditions which require transcatheter intervention such as balloon valvuloplasty for aortic stenosis or pacing for congenital heart block soon after birth helps in early postnatal stabilization of baby after birth.

During the study period, 5529 obstetric ultrasounds were done and diagnosis of cardiac malformation was made in 211/5529 pregnancies making the prevalence as 3.8%. This may not be the accurate picture as this study was conducted in high-risk pregnancy unit, and true prevalence will require a large study in pregnancies representative of the entire population. It is thus essential to incorporate fetal cardiac examination as part of routine antenatal care along with detailed anomaly scan.


  Conclusion Top


CHD is a problem of profound importance and when it remains undiagnosed may pose tremendous challenge to the families, especially in complex defect. It is thus imperative to increase awareness, and the community needs to be sensitized regarding the need to improve antenatal detection of CHD to decrease morbidity and mortality. This study stresses the need to incorporate fetal cardiac examination into routine prenatal ultrasound screening. Patients diagnosed with CHD should be offered detailed fetal anatomic sonogram and fetal karyotyping for counseling about pre- and post-natal management of cases. Intrauterine identification can be extremely beneficial in those requiring immediate neonatal intervention.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Ramegowda S, Ramachandra NB. An understanding the genetic basis of congenital heart disease. Indian J Hum Genet 2005;11:14-23.  Back to cited text no. 1
  [Full text]  
2.
Huang RT, Wang J, Xue S, Qiu XB, Shi HY, Li RG, et al. TBX20 loss-of-function mutation responsible for familial tetralogy of fallot or sporadic persistent truncus arteriosus. Int J Med Sci 2017;14:323-32.  Back to cited text no. 2
    
3.
van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, et al. Birth prevalence of congenital heart disease worldwide: A systematic review and meta-analysis. J Am Coll Cardiol 2011;58:2241-7.  Back to cited text no. 3
    
4.
Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Recurrence of congenital heart defects in families. Circulation 2009;120:295-301.  Back to cited text no. 4
    
5.
Prasad C, Chudley AE. Genetics and cardiac anomalies: The heart of the matter. Indian J Pediatr 2002;69:321-32.  Back to cited text no. 5
    
6.
Wong SF, Chan FY, Cincotta RB, Lee-Tannock A, Ward C. Factors influencing the prenatal detection of structural congenital heart diseases. Ultrasound Obstet Gynecol 2003;21:19-25.  Back to cited text no. 6
    
7.
Sklansky MS, Berman DP, Pruetz JD, Chang RK. Prenatal screening for major congenital heart disease: Superiority of outflow tracts over the 4-chamber view. J Ultrasound Med 2009;28:889-99.  Back to cited text no. 7
    
8.
Carvalho JS, Mavrides E, Shinebourne EA, Campbell S, Thilaganathan B. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 2002;88:387-91.  Back to cited text no. 8
    
9.
Ozkutlu S, Ayabakan C, Karagöz T, Onderoǧlu L, Deren O, Caǧlar M, et al. Prenatal echocardiographic diagnosis of congenital heart disease: Comparison of past and current results. Turk J Pediatr 2005;47:232-8.  Back to cited text no. 9
    
10.
Tegnander E, Williams W, Johansen OJ, Blaas HG, Eik-Nes SH. Prenatal detection of heart defects in a non-selected population of 30,149 fetuses – Detection rates and outcome. Ultrasound Obstet Gynecol 2006;27:252-65.  Back to cited text no. 10
    
11.
Eronen M. Outcome of fetuses with heart disease diagnosed in utero. Arch Dis Child Fetal Neonatal Ed 1997;77:F41-6.  Back to cited text no. 11
    
12.
Wei YJ, Liu BM, Zhou YH, Jia XH, Mu SG, Gao XR, et al. Spectrum and features of congenital heart disease in Xi'an, China as detected using fetal echocardiography. Genet Mol Res 2014;13:9412-20.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]
 
 
    Tables

  [Table 1], [Table 2]



 

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