|Year : 2016 | Volume
| Issue : 1 | Page : 35-38
Fetal echocardiography for early detection of conotruncal anomalies in high risk pregnancies: One year follow-up
Hala Salah Hamza1, Khaled Ramzy Gaber2, Wessam Abdel Raouf1, Ahmed Mohamed Dohain1, Gaser Sayed Abdel Mohsen1, Ahmed Nabil Abdd Elfattah2, Sameh Mohammed Senousy2, Heba E Abozid2, Wael Ahmed Attia1
1 Department of Pediatrics, Cardiology Division, Cairo University, Giza, Egypt
2 Department of Prenatal Diagnosis and Fetal Medicine, National Research Centre, Cairo, Egypt
|Date of Web Publication||6-Jan-2016|
Wael Ahmed Attia
Department of Pediatrics, Cardiology Division, Cairo University, Giza
Source of Support: None, Conflict of Interest: None
Background: Fetal echocardiography (FE) has contributed in early identification of serious conotruncal anomalies that require early intervention in postnatal life. Objective: Our study aims to evaluate the incidence of development of conotruncal anomalies in pregnant women with high-risk pregnancies referred for extended FE. Subjects and Methods: One hundred and fifty-one pregnant mothers were referred between 2013 and 2014, from the feto-maternal clinic for FE in a pediatric cardiology unit, as they had risk factors for developing fetal cardiac anomalies. Results: Consanguineous marriage was reported in 62% of cases. Twelve studies (7.9%) showed abnormal cardiac examination, nine of which were outcomes of consanguineous marriage. Two cases had Ebstein anomaly; both cases were outcomes of consanguineous marriage, in one of them the mother received Aspirin during the 1st trimester. Another two cases were diagnosed as a muscular ventricular septal defect, one had a family history of congenital heart defects and was the outcome of consanguineous marriage, the other had a history of Aspirin administration during the 1st trimester and nonconsanguineous marriage, only one case had hypoplastic left heart syndrome, and the maternal age was 36 years. Six cases (3.9%) had fetuses with conotruncal anomalies; all were outcomes of consanguineous marriage. Conclusions: FE is valuable in early detection of serious defects as conotruncal anomalies that may require early peri-natal intervention, especially in cases with high risk. Positive consanguinity is a major problem in developing countries, possibly associated with serious problems in offspring.
Keywords: Conotruncal anomalies, fetal echocardiography, high-risk pregnancies
|How to cite this article:|
Hamza HS, Gaber KR, Raouf WA, Dohain AM, Mohsen GS, Elfattah AN, Senousy SM, Abozid HE, Attia WA. Fetal echocardiography for early detection of conotruncal anomalies in high risk pregnancies: One year follow-up. J Clin Neonatol 2016;5:35-8
|How to cite this URL:|
Hamza HS, Gaber KR, Raouf WA, Dohain AM, Mohsen GS, Elfattah AN, Senousy SM, Abozid HE, Attia WA. Fetal echocardiography for early detection of conotruncal anomalies in high risk pregnancies: One year follow-up. J Clin Neonatol [serial online] 2016 [cited 2019 Oct 22];5:35-8. Available from: http://www.jcnonweb.com/text.asp?2016/5/1/35/173278
| Introduction|| |
Congenital heart defects (CHD) are gross structural anomalies of the heart or intrathoracic vessels; they represent about 5–10/1000 live births and are regarded as a major cause of infant mortality resulting from congenital anomalies., Fetal echocardiography (FE) has a role in improving surgical outcomes in certain patients with congenital heart disease and hence decreasing morbidity and mortality.,
Conotruncal heart anomalies are structural abnormalities involving the outflow tract of the heart, including a wide range of phenotypes, the most common of which are Fallot's tetralogy (TOF) and transposition of the great arteries (TGA). Most of these anomalies may be life-threatening immediately after birth and usually require early surgical intervention.
Conotruncal heart defects like dextro-TGA, TOF, double outlet right ventricle, and truncus arteriosus may have a normal four-chamber view in FE evaluation, so detailed and extended cardiac examination especially ventriculoarterial connection is of paramount importance.,,
The aim of our study was to evaluate the incidence of development of conotruncal anomalies in pregnant women with high-risk pregnancies referred for extended FE examination.
| Subjects and Methods|| |
The study is a retrospective study that evaluated the outcome of FE evaluation of 151 pregnant mothers referred from the feto-maternal outpatient clinic, who had risk factors for developing fetal cardiac anomalies [Table 1]. The evaluation was performed by the Pediatric Cardiology Team, Pediatric Cardiology Division, Children Hospital, between 2013 and 2014. The study was approved by the Ethical Committee for research in our department.
|Table 1: Indications for performing fetal echocardiography in screened mothers|
Click here to view
Consanguineous marriages are routinely encountered in our prenatal clinics. Each mother was asked during the first prenatal interview whether she and her partner were biological relatives or not.
Aspirin was given to 36 cases (23%) with suspected antiphospholipid or systemic lupus especially with the history of previous abortions. The mothers received 75 mg/day, and it was stopped at 34–36 weeks of gestation.
Detailed fetal echocardiography was performed using Philips HD 7 echocardiography machine (Philips Medical Systems, The Netherlands), a curvilinear C 2-5 probe was used, sequential segmental analysis and evaluation using basic views was performed; the structural disorders were evaluated by two-dimensional, color Doppler, and pulsed-wave (PW), Doppler. Rhythm abnormalities were evaluated by M-mode and PW Doppler.
| Results|| |
In the studied population, risk factors were listed in [Table 1].
There were 14 mothers (10.4%) older than 35 years. Consanguineous marriage was found in 94 cases (62.2%) of the studied population.
Out of the studied cases; 139 studies (92.1%) had a normal cardiac examination, 12 studies (7.9%) showed abnormal cardiac examination, and all were the outcome of a 1st degree consanguineous marriage. Two cases had Ebstein anomaly, both cases were the outcomes of a consanguineous marriage, and in one of those cases the mother was receiving Aspirin during the 1st trimester. Another two cases were diagnosed as muscular ventricular septal defect, one of which had a family history of CHD and was an outcome of a consanguineous marriage, the other had a history of Aspirin Administration during the first trimester and the fetus was an outcome of a nonconsanguineous marriage, only one case in our screening population had hypoplastic left heart syndrome (HLHS), the maternal age was 36 years.
Six cases (6/151; 4%) had fetuses with conotruncal anomalies [Table 2], all of them were the outcome of a 1st degree consanguineous marriage [Figure 1] and [Figure 2].
|Figure 1: Fetal echocardiography in a case of tetralogy of Fallot (Case I). AO – Aorta, LA – Left atrium, LV – Left ventricle, VSD – Ventricular septal defect|
Click here to view
|Figure 2: Fetal echocardiography in case of truncus arteriosus Type I (Case VI). LV – Left ventricle, PA – Pulmonary artery, RV – Right ventricle, VSD – Ventricular septal defect|
Click here to view
| Discussion|| |
Conotruncal heart malformations are serious anomalies that may require early intervention, in particular, the structural abnormalities of the outflow tract of the heart, encompassing a wide array of phenotypes. The most prevalent are TOF and TGA. They are potentially life-threatening conditions, often requiring surgical intervention.
Fetal diagnosis of structural heart defects is currently increasing due to the policy of prenatal screening for cardiac malformations during routine obstetrical ultrasounds. This is a very critical factor that may affect the incidence of CHD in cases where termination of pregnancy is indicated.,
The progress in ultrasound imaging technology has significantly improved prenatal diagnosis of intrauterine heart diseases., FE is a costly procedure of long duration that needs high skilled and experienced operator. Thus it is not feasible to perform FE to all pregnant females as a routine procedure in developing countries. That is why it is very important to define the indications for performing FE. The indications are fetal, maternal and hereditary factors; which are high risks for having a fetus with CHD. However, it has been reported that most of the fetuses with CHD are in the low-risk group and were suspected during routine screening by second-trimester detailed ultrasound.,
We reported 12 cases (7.9%) of the referred cases with structural cardiac anomalies. Todros et al. had detected the prevalence of CHD as 4.9% of 4523 pregnant females by FE, and Perri group had reported the prevalence to be 2.7% of 1696 pregnant females. The rates were different from the results of Ozkutlu et al. where the rates were around 10.3%. This variability in the prevalence of prenatal CHD may result from more common FE applications, different health policies or a specific society screening in these countries.
A consanguineous marriage was characterized by the degree of relatedness between the partners; first cousins, double first cousins, half first cousins, first cousins once removed, second cousins, second cousins once removed, and third cousins.
In the present study, consanguineous marriage was reported in 94 cases (62.2%), mostly first and double first cousins. Nine cases (75%) out of the 12 cases who had structural heart defects were the outcome of consanguineous marriage. The risk was higher in patients with conotruncal anomalies as all cases (100%) were the outcome of consanguineous marriage. Similar results were found by Al-Ani in 2013, where (77.9%) of the patients with CHD in Iraq resulted from consanguineous marriage. Becker et al. in 2001 reported that 40.4% of the parents to the CHD patients in their study in Saudi Arabia were first cousins. Ul Haq et al. in 2011 reported the occurrence of positive consanguinity in 48.8% of their patients with congenital heart disease in Pakistan.
In the present study, conoventricular anomalies were reported in six cases (4% of referred cases, and 50% of cases with structural heart diseases). These rates are similar to the levels reported in literature, Tometzki et al. reported conotruncal anomalies in 2.5% (61/2470) of referred cases, Vaidyanathan et al. reported 5.3% (68/1292) of referred cases.
In our studied cases, three had lesions requiring urgent postnatal intervention, and parents were instructed to deliver in a tertiary center ready to treat such cases. In one case, with HLHS, the outcome was explained to be unfavorable, yet termination of pregnancy was not accepted due to religious reasons. Three cases were having lesions that would need surgical intervention later in life and were instructed to follow-up in our pediatric cardiology clinic to be prepared for surgery when indicated.
| Conclusion|| |
FE is a very valuable tool in early detection of serious defects as conotruncal anomalies that may require early fetal or postnatal intervention, especially in cases with high risk. Positive consanguinity is a major serious problem in developing countries which is usually associated with serious major problems in offspring and thus needs early screening to detect defects that may need early intervention or even pregnancy termination.
We would like to thank all our collaborators in Prenatal Diagnosis and Fetal Medicine Department, National Research Centre, and Pediatric Cardiology Division in Pediatric Department, Cairo University. This study was partially supported by a grant from the German Academic Exchange Service (DAAD), Project No. 57030690, to Wael Attia.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Bosi G. Congenital heart defects and disease: An epidemiological overview. Ital J Pediatr 2004;30:261-6.
Lee K, Khoshnood B, Chen L, Wall SN, Cromie WJ, Mittendorf RL. Infant mortality from congenital malformations in the United States, 1970-1997. Obstet Gynecol 2001;98:620-7.
Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, et al.
Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation 1999;99:916-8.
Tworetzky W, McElhinney DB, Reddy VM, Brook MM, Hanley FL, Silverman NH. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation 2001;103:1269-73.
Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900.
Stümpflen I, Stümpflen A, Wimmer M, Bernaschek G. Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease. Lancet 1996;348:854-7.
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.
Chaoui R. The four-chamber view: Four reasons why it seems to fail in screening for cardiac abnormalities and suggestions to improve detection rate. Ultrasound Obstet Gynecol 2003;22:3-10.
American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med 2013;32:1067-82.
Garne E, Stoll C, Clementi M; Euroscan Group. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: Experience from 20 European registries. Ultrasound Obstet Gynecol 2001;17:386-91.
Stoll C, Alembik Y, Dott B, Roth MP. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2002;45:115-21.
Ozkutlu S, Elshershari H, Akçören Z, Ondergolu LS, Tekinalp G. Visceroatrial situs solitus with atrioventricular alignment discordance double outlet right ventricle and superoinferior ventricles: Fetal and neonatal echocardiographic findings. J Am Soc Echocardiogr 2002;15:749-52.
Ozkutlu S, Ayabakan C, Karagöz T, Onderoglu L, Deren O, Caglar M, et al.
Prenatal echocardiographic diagnosis of congenital heart disease: Comparison of past and current results. Turk J Pediatr 2005;47:232-8.
Ozkutlu S, Akça T, Kafali G, Beksaç S. The results of fetal echocardiography in a tertiary center and comparison of low-and high-risk pregnancies for fetal congenital heart defects. Anadolu Kardiyol Derg 2010;10:263-9.
Perri T, Cohen-Sacher B, Hod M, Berant M, Meizner I, Bar J. Risk factors for cardiac malformations detected by fetal echocardiography in a tertiary center. J Matern Fetal Neonatal Med 2005;17:123-8.
Todros T, Faggiano F, Chiappa E, Gaglioti P, Mitola B, Sciarrone A. Accuracy of routine ultrasonography in screening heart disease prenatally. Gruppo Piemontese for Prenatal Screening of Congenital Heart Disease. Prenat Diagn 1997;17:901-6.
Hamamy H. Consanguineous marriages: Preconception consultation in primary health care settings. J Community Genet 2012;3:185-92.
Al-Ani ZR. Association of consanguinity with congenital heart diseases in Al-Ramadi Maternity and children's teaching hospital, Western Iraq. J Clin Exp Cardiolog 2013;9:4-8.
Becker SM, Al Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet 2001;99:8-13.
Ul Haq F, Jalil F, Hashmi S, Jumani MI, Imdad A, Jabeen M, et al.
Risk factors predisposing to congenital heart defects. Ann Pediatr Cardiol 2011;4:117-21.
Tometzki AJ, Suda K, Kohl T, Kovalchin JP, Silverman NH. Accuracy of prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies. J Am Coll Cardiol 1999;33:1696-701.
Vaidyanathan B, Kumar S, Sudhakar A, Kumar RK. Conotruncal anomalies in the fetus: Referral patterns and pregnancy outcomes in a dedicated fetal cardiology unit in South India. Ann Pediatr Cardiol 2013;6:15-20.
[Figure 1], [Figure 2]
[Table 1], [Table 2]