Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first and early second-trimester echocardiography

U. Gembruch, Ahmet Baschat, G. Knöpfle, M. Hansmann

Research output: Contribution to journalArticle


Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.

Original languageEnglish (US)
Pages (from-to)391-396
Number of pages6
JournalUltrasound in Obstetrics and Gynecology
Issue number6
Publication statusPublished - 1997
Externally publishedYes



  • Cardiac anomalies
  • Chromosomal analysis
  • Fetal echocardiography
  • Fetal heart

ASJC Scopus subject areas

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

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