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.