Atrioventricular Septal Defect in the Fetus – Associated Conditions and Outcome in 246 Cases

Zusammenfassung

Ziel: Das Spektrum, die assoziierten Fehlbildungen und das Outcome pränatal diagnostizierter atrioventrikulärer Septumdefekte (AVSD) sollen erfasst werden. Material und Methoden: Retrospektive Auswertung aller zwischen 1998 und 2005 an zwei Zentren für Pränatale Medizin diagnostizierten Fälle. Ergebnisse: 246 fetale AVSD wurden im Studienzeitraum diagnostiziert: 129 (52,4 %) chromosomale Anomalien; 72 (29,3 %) Heterotaxie-Syndrome; 17 (6,9 %) nichtchromosomale Fehlbildungssyndrome; 16 (6,5 %) isolierte komplexe kardiale Vitien; 5 (2,0 %) isolierte extrakardiale Fehlbildungen; 7 (2,8 %) isolierte AVSD. Chromosomale Anomalien wurden in einem signifikant früheren Schwangerschaftsalter diagnostiziert (p < 0,01). Zusätzliche Herzfehler lagen bei 109 / 246 (44,3 %) der Fälle vor. Feten mit Down-Syndrom waren signifikant mit isoliertem AVSD und balancierter Ventrikelmorphologie assoziiert (p < 0,01). Von den 246 Schwangerschaften wurden 144 (58,5 %) abgebrochen, 18 (7,3 %) Feten verstarben in utero, 17 (6,9 %) in der Neonatalperiode und 19 (7,7 %) danach. Achtundvierzig Kinder (19,5 %) überlebten mit einem mittleren Follow-up von 34,94 ± 18,6 Monaten. Nach Ausschluss letaler Fehlbildungen betrug die Überlebensrate unter den Lebendgeborenen 64,9 % (48 / 74). Nach Ausschluss der Schwangerschaftsabbrüche hatten Feten mit Trisomie 21 signifikant bessere Überlebensraten (p < 0,01) und wurden signifikant häufiger biventrikulär korrigiert (p < 0,01) als Feten mit normalem Karyotyp. Schlussfolgerung: Unter Feten mit AVSD werden die mit Trisomie 21 assoziierten früher diagnostiziert, haben weniger schwerwiegende Herzfehler, werden öfter biventrikulär korrigiert und haben bessere Überlebensraten. Aufgrund der niedrigen Fallzahl in unserer Studie bleibt unklar, ob dieser offensichtliche Vorteil der Feten mit Down-Syndrom auch für Kollektive mit isoliertem AVSD gilt.

Abstract

Purpose: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. Materials and 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 (52.4 %) chromosomal anomalies; 72 (29.3 %) heterotaxy syndromes; 17 (6.9 %) non-chromosomal malformation syndromes; 16 (6.5 %) isolated complex cardiac malformations; 5 (2.0 %) singular extracardiac malformations; 7 (2.8 %) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (p < 0.01). Associated intracardiac malformations were present in 109 / 246 (44.3 %) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD (p < 0.01). 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. Forty-eight children (19.5 %) survived with a mean follow-up of 34.94 ± 18.6 months. After exclusion of lethal malformations, the survival rate among live births was 64.9 % (48 / 74). Fetuses with trisomy 21 had significantly better survival rates among continued pregnancies (p < 0.01) and significantly higher rates of successful biventricular repair among survivors who received their final corrective procedure (p < 0.01) than fetuses with normal karyotypes. Conclusion: Among fetuses with AVSD, those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy, higher rates of biventricular repair and better survival rates. Due to the limited sample size in euploid fetuses, it remains unclear whether this apparent protection afforded to Down syndrome accounts also for cohorts with isolated and balanced AVSD.

Key words

heart - echocardiography - fetus - atrioventricular septal defect - trisomy 21

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2 ^*both authors contributed equally to the manuscript