OP06.07: Prenatal diagnosis of double aortic arch (DAA): report of 6 cases

7–11 October 2007, Florence, Italy

Methods: A retrospective study of infants with HLHS diagnosed in utero and delivered in one tertiary care center from 2000 to 2006. Results: Fifty-two cases with HLHS were seen at between 16 and 34 weeks’ gestation. 21/29 cases seen before 23 weeks were terminated, and the remaining 31 infants were delivered at term and had surgery in the first 10 days of life. There were 6 deaths (19%). The only patient undergoing an emergency procedure (surgical atrial septectomy) for restrictive/imperforated interatrial septum died one day after the procedure. Three infants died after the neonatal procedure (Norwood stage 1), two died after the second stage operation (bi-directional cavo-pulmonary anastomosis) because of progressive low cardiac output. Both had moderate to severe tricuspid insufficiency and contractility indices of systemic right ventricle below normal levels. Twenty-five patients survived and are in good clinical condition. Two have already undergone the third surgical procedure (Fontan operation). Neurologic development is within the normal range in all cases. Conclusions: Our results indicate that HLHS is a curable though extremely severe congenital cardiac lesion, with a survival rate much greater than reported in previous prenatal series.

OP06.05 Prenatal diagnosis of atrioventricular septal defect – associated anomalies and outcome in 246 consecutive cases C. Berg1 , C. Kaiser1 , A. Geipel1 , R. Axt-Fliedner2 , M. Krapp2 , J. Breuer3 , U. Herberg3 , U. Gembruch1 1

Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany, 2 Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Lubeck, Germany, ¨ 3 Department of Pediatric Cardiology, University of Bonn, Germany

Objectives: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. Methods: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. Results: 246 cases of AVSD were detected in the study period: 129 (52%) chromosomal anomalies; 72 (29%) heterotaxy syndromes; 17 (7%) non-chromosomal malformation syndromes; 16 (7%) isolated complex cardiac malformations; five (2%) singular extracardiac malformations; seven (3%) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (P < 0.05). Associated intracardiac malformations were present in 109/246 (44%) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD, while in heterotaxy syndromes unbalanced AVSD with multiple further cardiac defects were the predominant findings (P < 0.05). Hydrops was present in 45/246 (18%) and was significantly associated with left isomerism (in the presence of complete heart block) and chromosomal anomalies (P < 0.05). Among the 246 cases, 144 (58.5%) underwent termination of pregnancy, 18 (7.3%) died in utero, 17 (6.9%) in the neonatal period and 19 (7.7%) in infancy. Only the presence of heart block and hydrops was significantly correlated with non-survival. Forty-eight (19.5%) children survived with a mean follow up of 28.9 ± 21.4 months. Fetuses with trisomy 21 had significantly higher rates of successful biventricular repair than those with heterotaxy syndromes (P < 0.05). Conclusions: Among fetuses with AVSD those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy and have higher rates of biventricular repair than those associated with heterotaxy syndromes. Isolated AVSD are very rare in fetal life.

Ultrasound in Obstetrics & Gynecology 2007; 30: 456–546

Oral poster abstracts

OP06.06 Prenatal diagnosis of tricuspid atresia – intrauterine course and outcome in 41 consecutive cases C. Berg1 , R. Lachmann1 , A. Geipel1 , R. Axt-Fliedner2 , M. Krapp2 , U. Herberg3 , J. Breuer3 , U. Gembruch1 1

Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany, 2 Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Lubeck, Germany, ¨ 3 Department of Pediatric Cardiology, University of Bonn, Germany

Objectives: To evaluate the intrauterine course and outcome of tricuspid atresia (TA) detected in fetal life. Methods: Retrospective review of all cases of TA detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. Results: Forty-one cases of TA were detected in the study period at a mean gestational age of 22.93 ± 4.3 weeks: 19 cases (46%) had concordant ventriculoarterial connection and 22 (54%) had discordant ventriculoarterial connection. Nineteen (46%) cases had an unobstructed right outflow tract, 12 (29%) had pulmonary stenosis and 10 (24%) had pulmonary atresia. Further associated intracardiac anomalies included aortic stenosis/atresia (n = 3), common arterial trunk (n = 3), atrioventricular and ventriculoarterial discordance (n = 1) and total anomalous pulmonary venous connection (n = 1). 36 (88%) cases were associated with a ventricular septal defect. Among the five (12%) with intact ventricular septum one had a ventriculocoronary fistula and another had an absent pulmonary valve syndrome. Although the pulsatility in the ductus venosus (DV) was elevated in 60% of the cohort, no cases of hydrops occurred. TA was an isolated finding in 33 (80%) cases. In the remainder three had chromosomal anomalies, two had a VACTERL association, one had right isomerism, one unilateral renal agenesis and one agenesis of the ductus venosus. A single umbilical artery was present in nine (22%) cases. Among the 41 cases, 13 (32%) underwent termination of pregnancy, two (5%) died in utero, two (5%) in the neonatal period and one (2%) in infancy. Twenty-two (54%) children survived with a mean follow-up of 30 months: nine received their initial palliation and 13 underwent univentricular correction. Conclusions: Tricuspid atresia is a rare cardiac anomaly in fetal life. Most cases are isolated findings. A prenatal differentiation of the different types and the associated cardiac and extracardiac conditions is feasible. Elevated pulsatility in the DV in TA does not indicate cardiac failure.

OP06.07 Prenatal diagnosis of double aortic arch (DAA): report of 6 cases G. Campobasso1 , P. Volpe1 , D. Paladini2 , V. De Robertis1 , N. Volpe1 , M. Gentile3 1

Department of Obstetrics and Gynecology, Hospital Di Venere, A. S. L. BARI, Italy, 2 Fetal Cardiology Unit, Department of Obstetrics and Gynecology, University Federico II, Naples, Italy, 3 Department of Medical Genetics, ASL Bari, Italy Objectives: To assess the accuracy of prenatal diagnosis, the incidence of associated cardiac and chromosomal anomalies, including 22q11 microdeletion, and the pre- and postnatal outcome in a case series of six DAA fetuses. Methods: The study population comprised a group of six DAA fetuses that had been examined by 2D and 4D echocardiography, for all of whom a thorough postnatal workup was available. FISH for the DiGeorge critical region (22q11) was performed in all cases. Results: In the study period (2004–2006) six cases of DAA were found at two referral centers. In 5/6 cases, the diagnosis of DAA was made at fetal echocardiography. In the remaining case, it was suspected at fetal echocardiography and the final diagnosis was made only after birth. FISH analysis showed 22q11 microdeletion

473

17th World Congress on Ultrasound in Obstetrics and Gynecology

Oral poster abstracts

in one of the six cases, the only case where DAA was associated with another heart defect. As to pregnancy outcome, there was one termination of pregnancy. Of the five newborns, three required surgery and two remain asymptomatic at over 6 months of age. Conclusions: The anomaly most likely to cause a symptomatic vascular ring is DAA. Fetal echocardiography appears to reliably diagnose DAA albeit with some limitations in the thorough assessment of the pathology. Establishment of 22q11 microdeletion status in those cases with associated cardiac anomalies is important.

this study was to investigate and compare the prenatal detection rates of five major congenital cardiac malformations over a ten-year period from 1995 to 2004 between private and public institutions in Singapore. Methods: Data on major cardiac malformation cases born in the period from 1995 to 2004 were retrieved from the National Birth Defect Registry and analyzed in two 5-year periods, 1995–1999 and 2000–2004. Results: Between the periods 1995–1999 and 2000–2004, detection rates improved significantly (P < 0.05) from 9.2% to 47.3% for Fallot’s tetralogy (overall 24.1%), 16.4% to 45.2% for transposition of great vessels (overall 29.6%), 12.7% to 44.9% for coarctation of aorta (overall 31.6%), 43.9% to 70.1% for hypoplastic left heart (overall 58.8%) and 44.2% to 70.0% for atrioventricular septal defect (overall 59.2%). This improvement in detection rates occurred uniformly in both private and public institutions. Detection rates for all five cardiac malformations, however, were significantly higher in the public institutions compared to private hospitals for both time periods (P < 0.05). Conclusions: The improvement in overall detection rates reflects greater awareness and better diagnostic skills due to a concerted educational and awareness program amongst Singaporean obstetricians, as well as improvements in diagnostic equipment. The gap in detection rates between public and private institutions reflects possible differences in operator training, skill and experience. To this end, a comprehensive national training program is proposed as the key healthcare implementation for detection and prevention of CHD. The ideal training center should be one with a high throughput of abnormal cases and demonstrated good detection rates.

OP06.08 Prenatal constriction of ductus arteriosus – analysis of 30 cases K. Janiak, M. Respondek-Liberska Polish Mother’s Memorial Hospital Research Institute and Medical University, Poland Objectives: The aim of the study was to estimate echocardiographic indices of ductus arteriosus constriction in fetuses with regard to its etiology. Methods: Among 9035 fetuses examined between 1994 and 2005 an isolated prenatal closing of DA was diagnosed in 30 cases (0.4%). The study group was divided into two subgroups: (1) spontaneous DA closure (47%); (2) DA closure after pharmacotherapy (53%). Results: Mean gestational age at the time of diagnosis was 34 weeks in subgroup 1 and 32 weeks in subgroup 2. There was a statistically significant difference in PI in the DA between the subgroups (P = 0.009). In addition to abnormal ductal PI other echocardiographic anomalies were present: myocardial hypertrophy, tricuspid valve insufficiency, heart disproportion in favor of the right side, hypokinesis of the right ventricle. In 97% cases echocardiographic features of prenatal DA constriction disappeared during pregnancy and newborns were delivered at a mean of 33 days after the prenatal diagnosis. During the first day of postnatal life RV overload was observed at 27%, however there were no symptoms at a mean age of 6 months. In our series there was one case with complete DA occlusion, which required emergency CS. Conclusions: Premature constriction of the ductus arteriosus was caused by pharmacotherapy or was idiopathic in an equal number of cases. In addition to abnormal flow in the DA other echocardiographic anomalies were usually present as well. Prenatal closing of the DA may be only temporary and may have no adverse effect on survival.

OP06.09 Prenatal detection of major congenital heart malformations in Singapore: a comparison of public and private institutions from 1995–2004 K. B. L. Tan, G. S. H. Yeo National Birth Defects Registry, Singapore Objectives: Various studies have shown differences in detection rates of CHD between tertiary and non-tertiary institutions. The aim of

OP06.10 Prenatal diagnosis of cardiomyopathy, development and outcome D. R. Hartge1 , A. Chiriac1 , A. Schwarze1 , M. Krapp1 , U. Gembruch2 , U. Germer3 , R. Axt-Fliedner1 1

Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Luebeck, Germany, 2 Division of Obstetrics and Prenatal Medicine, University of Bonn, Germany, 3 Caritas Hospital St. Josef, Regensburg, Germany

Objectives: Prenatal diagnosis of fetal cardiomyopathy (CM) and postnatal outcome. Methods: Prenatal complete ultrasounds, including echocardiography, performed in a tertiary referral center between January 1996 and March 2007 were reviewed. Results: In 6 of 35 220 cases the diagnosis of a CM was established. All fetuses proved to have a normal karyotype as well as no structural heart defects and were Caucasians. All diagnoses were achieved after 24 weeks of gestation with a range between 24+0 and 33+4, and a mean of 29+1 GW. In all cases earlier ultrasound scans showed no evidence of a CM or other structural cardiac defect. TORCHserology remained negative. There were three cases of a secondary and two of an idiopathic genesis. One case was related to a familial endocardial fibroelastosis. All cases resulted in live births (Table).

OP06.10: Table GA at time of diagnosis

Category

Sonographic pathologies

Type of CM

1 2

29 + 3 25 + 1

Idiopathic Idiopathic

Hypertrophic Dilated

Normal cardiac function Ongoing pregnancy

3

33 + 4

Secondary

Oligohydramnios, VES Akinetic right ventricle, TI, MI, Hydrops fetalis AV-Block III◦ , VES, TI, PI, Oligohydramnios

Dilated

Neonatal death at day 5

4

31 + 6

Secondary

Hypertrophic

5 6

31 + 1 24 + 0

Secondary Familial

Biphasic umbilical vein flow, full normalization during pregnancy MoDi twins, FFTS (acceptor) Endocardial fibroelastosis

Normal cardiac function, congenital deafness Neonatal death at day 1 Normal cardiac function

Case

474

Hypertrophic Hypertrophic

Outcome

Etiology

No related findings – Positive ANA-antibodies due to maternal SLE SVT FFTS (acceptor) Rhabdomyoma right ventricle, Endocardial fibroelastosis

Ultrasound in Obstetrics & Gynecology 2007; 30: 456–546