Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect

Abstract

Purpose To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD).

Methods All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers.

Results 50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1 neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25 of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5–15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319).

Conclusion The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.

Zusammenfassung

Ziel Beurteilung des intrauterinen Verlaufs, assoziierter Anomalien und des postnatalen Outcomes von Feten mit Pulmonalatresie mit Ventrikelseptumdefekt (PAVSD).

Methoden Retrospektive Auswertung aller über einen Zeitraum von 10 Jahren in den Universitätsfrauenkliniken Köln und Bonn sowie bei pränatal.de diagnostizierten Feten mit PAVSD und einem postnatalen Follow-Up von mindestens 6,5 Jahren.

Ergebnisse 50 PAVSD wurden pränatal diagnostiziert. 44,0 % der Feten hatten isolierte PAVSD, 4,0 % assoziierte kardiale und 10,0 % extrakardiale Anomalien, 38,0 % hatten chromosomale Anomalien, 4,0 % nicht chromosomale Syndrome. Von den 32 Lebendgeborenen hatten 56,3 % der Kinder einen reversen Fluss über einen offenen Ductus arteriosus, 25,0 % hatten major aortopulmonale Kollateralarterien (MAPCAs) mit Ductusagenesie und 18,7 % hatten einen double supply. 17 (34 %) Schwangerschaften wurden abgebrochen, 1 Fötus (2 %) verstarb intrauterin, 1 Kind (2 %) in der Neonatal-Zeit, 6 Kinder (12 %) im Säuglingsalter. 25 von 30 (83,3 %) Lebendgeborenen mit intention-to-treat lebten beim letzten Follow-Up. Das durchschnittliche Follow-Up unter den Überlebenden betrug 10,0 Jahre (range 6,5–15,1). 56 % der Kinder erhielten eine 2-zeitige Korrektur, 44 % wurden 1-zeitig operiert. Nach Ausschluss der Kinder mit chromosomalen oder syndromalen Anomalien waren 88,9 % der Kinder gesund, 11,1 % waren leicht beeinträchtigt. Die Inzidenz von MAPCAs unterschied sich nicht signifikant zwischen Verstorbenen und Überlebenden (p = 0,360), zwischen 1-zeitig und 2-zeitig operierten (p = 0,656) und zwischen gesunden und beeinträchtigten Kindern (p = 0,319).

Schlussfolgerungen Die Prognose der PAVSD ohne assoziierte chromosomale oder syndromale Anomalien ist gut, die Mehrzahl der Kinder überlebt ohne Einschränkungen. MAPCAs beeinflussen weder die Prognose noch den postoperativen Gesundheitszustand. Lediglich die Inzidenz wiederholter Interventionen durch rekurrierende Stenosen war nach 2-zeitiger operativer Korrektur signifikant häufiger als nach 1-zeitiger Korrektur.

Key words

ventricular septal defect - congenital heart defect - prenatal diagnosis - fetus - pulmonary atresia

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