The association between congenital heart disease and Down syndrome in prenatal life

D. Paladini, A. Tartaglione, A. Agangi, A. Teodoro, F. Forleo, A. Borghese, P. Martinelli

Research output: Contribution to journalArticlepeer-review


Objective: To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero. Design: Retrospective case series. Subjects: Fifty-two fetuses with a cytogenetic diagnosis of DS managed at our Fetal Cardiology Unit in the study period. In particular, two populations of fetuses with DS were studied: A group of 41 DS fetuses referred to our unit for fetal echocardiography due to the chromosomal anomaly and a second group of 274 fetuses referred because of suspected CHD, 11 of which were found to have DS. Methods: All fetuses were submitted to detailed ultrasound evaluation of fetal anatomy. Associated extra-cardiac anomalies, and presence and type of CHD, were recorded for all fetuses. Karyotyping was obtained by means of cordocentesis or amniocentesis. Necropsy or neonatal echocardiograms were sought for confirmation of the prenatal diagnosis. Results: In the group of 41 fetuses with known DS, the incidence of CHD was 56% ([atrioventricular septal defect (AVSD) 44%, ventricular septal defect (VSD) 48%], the remainder having other heart defects). Conversely, considering the incidence of DS in fetuses with CHD, 43% of all AVSDs (53% of AVSD with normal visceral situs) were associated with DS, whereas none of the 39 cases of VSD was associated with trisomy 21. Ventricular septal defects were diagnosed only in fetuses referred to our center with a known diagnosis of aneuploidy. Conclusions: We have confined that more than half of the fetuses with DS bear a CHD, which is an AVSD in 44% of cases. Conversely, 43% of fetuses with an AVSD have trisomy 21. For VSDS, the situation is controversial, due to the relatively low detection level of this heart defect at the routine mid-trimester obstetric scan.

Original languageEnglish
Pages (from-to)104-108
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Issue number2
Publication statusPublished - 2000


  • Atrioventricular septal defect
  • Congenital heart defect
  • Down syndrome
  • Ventricular septal defect

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Acoustics and Ultrasonics


Dive into the research topics of 'The association between congenital heart disease and Down syndrome in prenatal life'. Together they form a unique fingerprint.

Cite this