Prenatal diagnosis, associated findings and postnatal outcome of fetuses with truncus arteriosus communis (TAC)

• Published in: Archives of gynecology and obstetrics Vol. 304; no. 6; pp. 1455 - 1466
• Main Authors: Abel, J. S., Berg, C., Geipel, A., Gembruch, U., Herberg, U., Breuer, J., Brockmeier, K., Gottschalk, I.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2021; Springer Nature B.V
• Subjects: Coronary vessels; Endocrinology; Female; Fetal Death; Fetus - diagnostic imaging; Fetus - surgery; Fetuses; Gestational Age; Gynecology; Heart Defects, Congenital - diagnostic imaging; Heart Defects, Congenital - surgery; Human Genetics; Humans; Infant; Infant, Newborn; Maternal-Fetal Medicine; Medicine; Medicine & Public Health; Obstetrics/Perinatology/Midwifery; Postoperative Complications; Pregnancy; Prenatal Diagnosis - methods; Pulmonary arteries; Retrospective Studies; Thoracic Surgical Procedures; Ultrasonography, Prenatal - methods; Congenital heart defect; Prenatal diagnosis; Aortopulmonary trunk; TAC; Fetus; Common arterial trunk; Truncus arteriosus communis
• ISSN: 0932-0067; 1432-0711; 1432-0711
• DOI: 10.1007/s00404-021-06067-x

Purpose To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) Methods All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. Results Thirty nine cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range 13–38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 87.5% and of TAC subtype in 90.5%. Prenatal diagnosis was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect (VSD) postnatally, one had hypo-plastic right ventricle with dextro transposition of the great arteries (d-TGA) with coarctation of the aorta and a third newborn had tetralogy of fallot (TOF) with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These 3 cases were excluded from further analysis. In 26.5% of cases, TAC was an isolated finding. 38.2% of fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in between 8.8% and 58.8%, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 17.6%. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range 6–104). Postoperative health status among survivors was excellent in 78.6%, but 46.2% needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 21.4% of survivors were significantly impaired due to non-cardiac problems. Conclusion Truncus arteriosus communis is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.