Prenatal karyotype results of fetuses with nuchal edema, cystic hygroma, and non-immune hydrops.

PURPOSE: Subcutaneous edema detected sonographically in the forms of nuchal edema, cystic hygroma (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities. The aim of this study was to investigate the chromosome abnormality incidence in fetuses with nuchal edema, CH, or NIH.

MATERIALS AND

METHODS

The authors performed cytogenetic analysis of 218 singleton fetuses with ultrasound diagnosis of subcutaneous edema in the forms of nuchal edema in the first and second trimesters.

RESULTS

Chromosomal abnormality rates were 30.4, 10.4, 36.8, 34.1, and 60% in the nuchal translucency (NT), nuchal fold thickness (NF), CH, NIH, and CH with NIH groups, respectively. In 71 cases with detected chromosomal abnormalities, 37%, 44%, 15%, and 4% of the pathologic karyotypes were identified as monosomy X, trisomy 21, trisomy 18, and trisomy 13, respectively.

CONCLUSIONS

This study confirms that subcutaneous edema detected sonographically, in the forms of nuchal edema, CH, or NIH, is a significant indicator of abnormal karyotype and deserves further investigation.