Prenatal Sonographic Findings in Trisomy 22

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.