Common arterial trunk in the fetus

Characteristics, associations, and outcome in a multicentre series of 23 cases

P. Volpe, D. Paladini, M. Marasini, A. L. Buonadonna, M. G. Russo, G. Caruso, A. Marzullo, M. Vassallo, P. Martinelli, M. Gentile

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 cases, FISH analysis was done to detect 22q11 microdeletion. The following variables were evaluated: gestational age at diagnosis, anatomical variants of the CAT, presence of extracardiac and chromosomal anomalies, pregnancy, and fetal-neonatal outcome. Necropsy reports and postnatal files were available for confirmation of the prenatal diagnosis in all cases. Results: The prenatal diagnosis proved correct in 23 of 24 cases, the last being pulmonary atresia with ventricular septal defect (PAVSD). A second cardiovascular anomaly was present in eight cases (34.8%); extracardiac anomalies were found in 10 (43.4%). FISH ana ysis showed 22q11 microdeletion in six of 19 cases (31.6%). Outcomes were as follows: eight terminations of pregnancy (34.8%), two intrauterine deaths (8.7%), five postnatal deaths (before or after surgery) (21.7%); the remaining eight neonates (34.8%) are alive and thriving after surgery (six) or awaiting surgery (two). Conclusions: CAT can be reliably diagnosed and characterised in prenatal life, although differentiation from PAVSD may be challenging. The association with chromosomal anomalies is consistent (8.7%), but there is a higher risk of 22q11 microdeletion (31.6%), in agreement with postnatal studies. The relatively poor survival rate (34.8%) reflects the high rate of terminations and the unfavourable cardiac anatomy in some cases.

Original languageEnglish
Pages (from-to)1437-1441
Number of pages5
JournalHeart
Volume89
Issue number12
Publication statusPublished - Dec 2003

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Prenatal Diagnosis
Fetus
Karyotyping
Pregnancy
Gestational Age
Observational Studies
Echocardiography
Anatomy
Referral and Consultation
Incidence
Population
Pulmonary Atresia With Ventricular Septal Defect

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Volpe, P., Paladini, D., Marasini, M., Buonadonna, A. L., Russo, M. G., Caruso, G., ... Gentile, M. (2003). Common arterial trunk in the fetus: Characteristics, associations, and outcome in a multicentre series of 23 cases. Heart, 89(12), 1437-1441.

Common arterial trunk in the fetus : Characteristics, associations, and outcome in a multicentre series of 23 cases. / Volpe, P.; Paladini, D.; Marasini, M.; Buonadonna, A. L.; Russo, M. G.; Caruso, G.; Marzullo, A.; Vassallo, M.; Martinelli, P.; Gentile, M.

In: Heart, Vol. 89, No. 12, 12.2003, p. 1437-1441.

Research output: Contribution to journalArticle

Volpe, P, Paladini, D, Marasini, M, Buonadonna, AL, Russo, MG, Caruso, G, Marzullo, A, Vassallo, M, Martinelli, P & Gentile, M 2003, 'Common arterial trunk in the fetus: Characteristics, associations, and outcome in a multicentre series of 23 cases', Heart, vol. 89, no. 12, pp. 1437-1441.
Volpe, P. ; Paladini, D. ; Marasini, M. ; Buonadonna, A. L. ; Russo, M. G. ; Caruso, G. ; Marzullo, A. ; Vassallo, M. ; Martinelli, P. ; Gentile, M. / Common arterial trunk in the fetus : Characteristics, associations, and outcome in a multicentre series of 23 cases. In: Heart. 2003 ; Vol. 89, No. 12. pp. 1437-1441.
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abstract = "Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 cases, FISH analysis was done to detect 22q11 microdeletion. The following variables were evaluated: gestational age at diagnosis, anatomical variants of the CAT, presence of extracardiac and chromosomal anomalies, pregnancy, and fetal-neonatal outcome. Necropsy reports and postnatal files were available for confirmation of the prenatal diagnosis in all cases. Results: The prenatal diagnosis proved correct in 23 of 24 cases, the last being pulmonary atresia with ventricular septal defect (PAVSD). A second cardiovascular anomaly was present in eight cases (34.8{\%}); extracardiac anomalies were found in 10 (43.4{\%}). FISH ana ysis showed 22q11 microdeletion in six of 19 cases (31.6{\%}). Outcomes were as follows: eight terminations of pregnancy (34.8{\%}), two intrauterine deaths (8.7{\%}), five postnatal deaths (before or after surgery) (21.7{\%}); the remaining eight neonates (34.8{\%}) are alive and thriving after surgery (six) or awaiting surgery (two). Conclusions: CAT can be reliably diagnosed and characterised in prenatal life, although differentiation from PAVSD may be challenging. The association with chromosomal anomalies is consistent (8.7{\%}), but there is a higher risk of 22q11 microdeletion (31.6{\%}), in agreement with postnatal studies. The relatively poor survival rate (34.8{\%}) reflects the high rate of terminations and the unfavourable cardiac anatomy in some cases.",
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AU - Russo, M. G.

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N2 - Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 cases, FISH analysis was done to detect 22q11 microdeletion. The following variables were evaluated: gestational age at diagnosis, anatomical variants of the CAT, presence of extracardiac and chromosomal anomalies, pregnancy, and fetal-neonatal outcome. Necropsy reports and postnatal files were available for confirmation of the prenatal diagnosis in all cases. Results: The prenatal diagnosis proved correct in 23 of 24 cases, the last being pulmonary atresia with ventricular septal defect (PAVSD). A second cardiovascular anomaly was present in eight cases (34.8%); extracardiac anomalies were found in 10 (43.4%). FISH ana ysis showed 22q11 microdeletion in six of 19 cases (31.6%). Outcomes were as follows: eight terminations of pregnancy (34.8%), two intrauterine deaths (8.7%), five postnatal deaths (before or after surgery) (21.7%); the remaining eight neonates (34.8%) are alive and thriving after surgery (six) or awaiting surgery (two). Conclusions: CAT can be reliably diagnosed and characterised in prenatal life, although differentiation from PAVSD may be challenging. The association with chromosomal anomalies is consistent (8.7%), but there is a higher risk of 22q11 microdeletion (31.6%), in agreement with postnatal studies. The relatively poor survival rate (34.8%) reflects the high rate of terminations and the unfavourable cardiac anatomy in some cases.

AB - Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 cases, FISH analysis was done to detect 22q11 microdeletion. The following variables were evaluated: gestational age at diagnosis, anatomical variants of the CAT, presence of extracardiac and chromosomal anomalies, pregnancy, and fetal-neonatal outcome. Necropsy reports and postnatal files were available for confirmation of the prenatal diagnosis in all cases. Results: The prenatal diagnosis proved correct in 23 of 24 cases, the last being pulmonary atresia with ventricular septal defect (PAVSD). A second cardiovascular anomaly was present in eight cases (34.8%); extracardiac anomalies were found in 10 (43.4%). FISH ana ysis showed 22q11 microdeletion in six of 19 cases (31.6%). Outcomes were as follows: eight terminations of pregnancy (34.8%), two intrauterine deaths (8.7%), five postnatal deaths (before or after surgery) (21.7%); the remaining eight neonates (34.8%) are alive and thriving after surgery (six) or awaiting surgery (two). Conclusions: CAT can be reliably diagnosed and characterised in prenatal life, although differentiation from PAVSD may be challenging. The association with chromosomal anomalies is consistent (8.7%), but there is a higher risk of 22q11 microdeletion (31.6%), in agreement with postnatal studies. The relatively poor survival rate (34.8%) reflects the high rate of terminations and the unfavourable cardiac anatomy in some cases.

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