Prenatal sonographic findings in trisomy 22: five case reports and review of the literature.
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.
Stressig
Rüdiger
R
Institute of Prenatal Medicine and Genetics, Graf-Adolf-Strasse 35, 40210 Düsseldorf, Germany. institut@praenatal.de
Körtge-Jung
Stefani
S
Hickmann
Gaby
G
Kozlowski
Peter
P
D000328:Adult; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D014314:Trisomy; D016216:Ultrasonography, Prenatal