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.