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Prenatal Sonographic Findings in Trisomy 22

Five Case Reports and Review of the Literature

Institute of Prenatal Medicine and Genetics, Düsseldorf, Germany.

Address correspondence to Rüdiger Stressig, MD, Institute of Prenatal Medicine and Genetics, Graf-Adolf-Strasse 35, 40210 Düsseldorf, Germany. E-mail: institut{at}praenatal.de

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.

Key Words: cerebellar defects • femur length • intrauterine growth restriction • nuchal thickening • sonographic markers • trisomy 22

Abbreviations: ASD, atrial septal defect • IUGR, intrauterine growth restriction • VSD, ventricular septal defect