Ultrasound markers which indicate chromosome analysis

Research output: Contribution to journalReview article


This article summarizes the incidence of chromosome abnormalities detected in cases of different positive ultrasound findings. We have studied malformations with subcutaneous edema: non-immune hydrops is often associated with X-monosomy and trisomy 21, and cystic hygroma with X-monosomy and trisomy. In cases of nuchal edema we measure in the first-trimester nuchal translucency, and, in the second trimester, nuchal thickening, higher values indicating higher risks of trisomy 21 and other trisomies. In terms of cerebral malformations, ventriculomegaly increases the risk of trisomy 21, and choroid plexus cysts increase the risk of trisomy 18. In cases of other cranial malformations the incidence rate of chromosome abnormalities is higher Holoprosencephaly and cleft lip and palate increase the risk of trisomy 13, and in the case of rossa posterior cyst the risk of trisomy 18 is higher. In terms of cardiac malformations, an echogenic intracardiac focus increases the risk of trisomy 21, but is also present in the normal population. In cases of ventricular/atrioventricular septal defects, mainly the risk of trisomy 21 is higher, but the incidence rate of other aneuploidies (mainly trisomy 18) also increases. In cases of other cardiac (heart and large blood vessels) malformations (coarctation of the aorta, double outlet right ventricle, hypoplastic left heart syndrome, truncus arteriosus, tetralogy of Fallot) the rate of abnormal karyotypes is high. In some cases of diaphragmatic hernia, 12 isochromosome mosaicism is present, which is detectable only from fibroblast and not from lymphocyte culture in some instances. In a case of pyelectasis the risk of trisomy 21 is higher. Regarding abdominal malformations, omphalocele (exomphalos) mainly increases the risk of trisomy 18, and to a lesser extent trisomy 13, and in a case of duodenal atresia, the risk of trisomy 21 is higher. Occurring even in normal pregnancies, echogenic bowel is associated with a higher risk of trisomy 21. In cases of short femur and humerus, the observed/expected ratio (≤ 0.91) and the biparietal diameter/fetal length ratio (> 1.5 SD) are suitable parameters. If both the humerus and the femur are shorter, the risk of chromosome anomalies is higher. In cases of single umbilical artery the risk of chromosome abnormalities is higher, mainly when the left artery is missing.

Original languageEnglish
Pages (from-to)259-272
Number of pages14
JournalUltrasound Review of Obstetrics and Gynecology
Issue number4
Publication statusPublished - Dec 1 2003


  • Chorionic villus sampling
  • Chromosome abnormalities
  • Cytogenetics
  • Genetic amniocentesis
  • Karyotyping
  • Ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynaecology

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