Prenatal sonographic findings in trisomy 22: five case reports and review of the literature

J Ultrasound Med. 2005 Nov;24(11):1547-53. doi: 10.7863/jum.2005.24.11.1547.


Objective: The purpose of this study was to survey prenatal sonographic findings and their frequencies in fetuses with complete trisomy 22 and to identify potential sonographic markers of this aneuploidy.

Methods: Sonographic examinations of 5 fetuses were performed and chromosome analysis was conducted after amniocentesis, chorionic villus sampling, cordocentesis, or a combination thereof. The sonographic findings were compared with other prenatal cases in the literature.

Results: Intrauterine growth restriction, hypoplastic femurs, nuchal thickening, cerebellar defects, and oligohydramnios were the most frequently observed anomalies in all considered cases of late first-, second-, and third-trimester scans.

Conclusions: These anomalies represent commonly accepted sonographic markers for chromosomal defects in general, some recognizable from the time of first-trimester screening (12th-14th weeks of gestation) and stress their importance for prenatal sonographic scans.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 22*
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / genetics*
  • Humans
  • Trisomy*
  • Ultrasonography, Prenatal*