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Prenatal Color Doppler Echocardiography:
Its Usefulness in Examination
and Therapeutical Handling
of Fetal Cardiac Pathology

Schroh, Ana; Correa, Alberto;
Crocco, Hugo; González, Jorge

Instituto Ginecomamario, Mendoza, Argentina

Objectives: Prenatal diagnosis of congenital heart disease as an important aspect of cardiological practice in pediatry, because an appropriated management of cardiac disease would help to decrease the mortality in this group of patients.
Method: All patients referred to our institution for fetal color Doppler echocardiography were included in the study, in view of suspecting a possible cardiac abnormality. The reason for referral, they personal background, diagnosis made and the current hemodynamic status of this patients were documented.
Results: Congenital heart disease was diagnosed in 14 patients among a total of 61 studies (22.9%) between February 1999 and December 2000.
The most frequent reasons for derivation of patients were: 1) Obstetric echo with suspicion of cardiopathy (31.14%), maternal causes (19.67%) and fetal arrhythmia (16.39%).
Intracardiac structural anomalies were detected in 14 patients.
a) 3 ventricular septal defect (VSD): two large muscular and one small midventricular connection.
b) 2 atrioventricular septal defect
c) 2 pulmonary atresia (PA) with intact interventricular septum
d) 1 Fallot
e) 2 single ventricle with transposition of great arteries
f)  1 Ebstein anomaly
g) 1 common truncus arteriosus
h) 1 coarctation of aorta
i)  1 dextrocardia with congenitally corrected transposition, VSD and PA
There was omission of diagnostic in 3 patients (6.38%) among 47 studies considered as normal: 2 large perimembranous VSD and a small midventricular muscular VSD; partial diagnosis: 5/14 (35.7%) and complete diagnosis in the remaining 9 patients (64.28%).
There were no intrauterine deaths; 50% of children with complex cardiopathies diagnosed in the prenatal stage have died. Conclusion: 1) Very high percentage of congenital heart disease among population appropriately selected by an obstetrician.
2) Detection of severe cardiopathies (93%) requiring early surgical treatment. 3) Prepare and arrange the delivery in an institute ready for neonatal handling of newborn cardio path patients. 4) Difficulty in prenatal diagnosis of perimembranous VSD, in spite of a systematic search.


   Congenital cardiopathies are reported as the most frequent congenital structural anomaly in human fetus.
Fetal cardiac anatomy and function may be reliably assessed by means of a bi-dimensional echocardiography complemented by pulsed cardiac Doppler and color flow mapping.

   The diagnosis and handling of a prenatally diagnosed congenital heart disease is an important aspect of pediatric cardiologic practice. Its precocious recognition and treatment will contribute to a decrease of children's mortality.
This work is aiming to determinate the impact of prenatal diagnosis of a cardiac disease upon its natural history, its evolution and its prognosis.

   All patients referred for fetal echocardiographic survey were included in the study, in view of suspicion of a possible cardiac abnormality. The reason why they have been directed to us, their personal history, obstetrical record, the diagnosis carried out and the current hemodynamic situation at the time of the assessment, have been documented.
The period of the respective studies was comprised between February, 1999 and December, 2000.

   The research total refers to 61 patients. The maternal age was comprised between 16 and 45 (mean age = 28.6); the paternal age between 16 and 50 (mean age 31.1), and the gestational time between 23 and 39 weeks (mean gestation: 32.1 weeks).

   The most frequent reasons for examination of patients were: 1) Obstetric echo with suspicion of cardiopathy: 19 patients (31.14%), maternal causes: 12 patients (19.67%) and fetal arrhythmia: 10 patients (16.39%), followed by obstetrical causes (polyhydraminios, etc.), other fetal malformations (digestive, neurological or renal), abnormal nuchal translucency (hypoechogenic space at cervical spine, measured between 11th. and 14th. weeks) or chromosomal anomalies diagnosed through study of karyotype (genetic) and the 1st. degree relatives concerning congenital cardiopathies history (5 patients in each case: 8.19%).

    All echocardiographic studies were performed by means of a ATL HDI 3000 and 5000 ultrasound apparatus. The fetal cardiac anomalies were studied from multiple levels, including 4 and 5 chambers, short and long axis, and views of aortic and ductal arch.

   The morphological study was complemented by pulsed Doppler and color flow mapping in order to facilitate identification of major blood vessels and determine the presence and severity of valvular obstruction or regurgitation, and to assess the flow through the foramen ovale. M-mode echocardiogram was employed to assess fetal arrhythmias, placing the cursor at intersection of auricle and ventricle, registering the relation between auricular and ventricular contractions. It was complemented through pulsed Doppler register of aorta or pulmonary artery flow.

   From a total of patients attended for fetal echocardiogram, pathologic findings were found in 19 patients, corresponding to 5 fetuses with alteration of cardiac rhythm, and 14 congenital cardiopathies.

   Cardiac arrhythmia was detected in 5 to 10 fetuses attended due to alteration of rhythm (50%), 80% (4 patients) of the same due to supraventricular extrasystolia, and 20% remaining (1 patient) to incessant supraventricular paroxysmal tachycardia, determining maternal hospitalization and use of digoxin to control the episode. In neither of them the obstetrical conduct was modified.

   Heart arrhythmia, during the fetal echo, was not detected in any other patient.

   From among 19 pregnancies attended for supposed congenital cardiopathy, the same was confirmed in 14 (73.68).
   The following congenital cardiopathies were detected:
1) Isolated VSD: 3 cases corresponding to 2 large muscular and 1 small midventricular communication.
2) 4 abnormal chambers: 5 cases. Atrioventricular septal defects (2); a single ventricle with transposition of great vessels (2) and Ebstein´s anomaly (1).
3) Ventricular asymmetry: 3 cases. Pulmonary atresia with intact ventricular septum (2) and coarctation of aorta (1).
4) Troncoconal malformation: 3 cases. Fallot (1); Common truncus arteriosus (1); congenitally corrected transposition of great vessels with VSD and atresia pulmonary in situs inversus (1).

   No one of the patients evidenced signs of fetal heart insufficiency.   

   In 6 of among 14 patients where a neonatal cardiological assistance was deemed as necessary, the parents were advised with respect to election of the right place of delivery, in order to rely on appropriate means for the case.

   The neonatal cardiological assessment allowed the prenatal diagnosis to be evaluated, upon which 3 groups of patients were established: 1) those where their cardiopathy has not been recognized during their fetal life; 2) those where cardiopathy was only partially recognized; and 3) where the morphological diagnosis was complete, in all cases excluding the persistence of arterious duct and atrial septal defect (ASD).

   There was diagnosis omission in 3 patients, among 47 normal deemed studies (6.38%): 2 huge sub-tricuspid VSD and 1 small midventricular muscle VSD. The diagnosis was partial in 5 of 14 fetuses (35.7%), and complete in the remaining 9 patients (64.28%).

   With regard to the partial diagnosis, in all cases it was consistent with complex cardiopathies: 1) In a patient with large infundibular VSD, a double outlet of right ventricle with pulmonary valve agenesis was omitted; 2) a complete A-V septal defect, actually was a right isomerism with transposition, pulmonary stenosis and a totally anomalous pulmonary venous return; 3) a case with pulmonary atresia and intact interventricular septum, the correct diagnosis corresponded to 1A-type tricuspid atresia (with pulmonary atresia and septum intact); 4) the child with common truncus arteriousus evidenced also an significant truncal insufficiency; 5) a patient with coarctation of aorta, presenting a severe right ventricle (RV) enlargement, furthermore a peri-membranous VSD diagnosis was performed, due to an impressive ventricular convexity septal discontinuity which did not appear in the neonatal stage. There were no intrauterine deaths; 92.85% of cardiopathies diagnosed in this series during the fetal period, in some point of their development will require a surgical treatment, and 50% of surgical cardiopathies already required surgery during their neonatal period. In all cases, the parents were appropriately and timely advised whether the patient would necessitate an immediate neonatal surgical intervention or not. There were 2 non-diagnosed surgical cardiopathies related with major sub-tricuspid VSD where a surgery intervention was pointed out during the childhood.
50% of the children with complex cardiopathies, diagnosed during the prenatal period, have died.

   Congenital cardiopathies constitute the most frequent congenital malformations of human fetuses, being responsible and origin for more than 50% of deaths because of congenital anomalies during infancy (1).

   Several hazard factors for congenital cardiopathy have been identified, including those cardiac and maternal ones.
Fetal echocardiography may identify the majority of cardiac structural anomalies, and traditionally has been reserved for congenital cardiopathies in high-risk deliveries (2).

   Congenital cardiopathy was detected in 22.9% of fetuses derived for cardiovascular assessment. If we consider only those of 4 chambers, referred to as abnormal by the obstetrician, then 73.68% turned out to have a cardiac anomaly. Therefore, it is of fundamental and primary importance that obstetrician echographers be conscientiously encouraged and motivated in systematic searching of fetal cardiac anomalies.

   The first trimester screening using nuchal translucency measurements has facilitated early diagnosis of major chromosome anomalies and proved to be an effective method of screening in search of cardiac malformations in absence of chromosomal abnormalities (3-4).

   Congenital cardiopathy was detected in 20% of patients with abnormal nuchal translucency.

   92.8% of diagnosed cardiopathies were surgical, among which 50% required neonatal surgery. Only 50% of patient whose fetal diagnosis was congenital cardiopathy, are alive. Just as published by other authors, a poor diagnosis of congenital heart disease diagnosed in uterus is frequently attributed to the fact that in fetus are detected the most severe forms of cardiopathy (5).

   The prenatal Doppler color echocardiography had 82% sensitivity and 100% specificity.

   1) Very high percentage of congenital cardiopathies inquiry among population appropriately selected by an obstetrician.

   2) Detection of severe congenital cardiopathies (93%) requiring early surgical treatment.

   3) Counsel that the delivery can take place in an institute with available comprehensive neonatal handling of newborn cardiopathy patients, preferably with cardiosurgery facilities, given the high quirurgical need of patients with cardiopathies diagnosed during the fetal life.

   4) Difficulty in prenatal diagnosis of perimembranous VSD, in spite of a systematic search of 5 chambers.


1. Hoffman JIE, Christianson R.: "Congenital heart disease in a cohort of 19,502 births with long-term follow-up" Am. J. Cardiol. 1978; 42:641.

2. Allan LD; Sharland GK; Milburn A; Lockhart SM; Groves AMM; Anderson RH; Cook AC; Fagg NLK: Prospective diagnosis of 1006 consecutive cases of congenital heart disease in the fetus". J.Am.Coll. Cardiol. 1994; 23:1452

3. Nicolaides KH, Brizot ML, Snijders RSM.: "Fetal nuchal translucency thickness: ultrasound screening for fetal trisomy in the first trimester of pregnancy". Br. J. Obstet. Gynaecol. 1994; 101:782.

4. Hyett JA, Perdu M, Sharland GK et al.: fetal nuchal translucency to screen for major congenital cardiac defects at 10 to 14 weeks of population based cohort study". British Med. Journal, 1999; 318:81.

5. Huggon IC, Cook AC, Smeeton NC, Stat C, Magee AG, Sharland GK: "Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome". J. Am. Coll. Cardiol. 2000; 36:593.



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