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

Abstract

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.

• Authors: Rüdiger Stressig, Stefani Körtge-Jung, Gaby Hickmann, Peter Kozlowski
• Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine (J Ultrasound Med) Vol. 24 Issue 11 Pg. 1547-53 (Nov 2005) ISSN: 0278-4297 [Print] England
• PMID: 16239659 (Publication Type: Case Reports, Journal Article, Review)

Topics

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