The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel

Abstract

Objective: Our aim is to determine the frequency of chromosomal abnormalities and also to identify the role of structural malformations on the chromosomal abnormality risk among fetuses with echogenic bowel.

Methods: Over a 6-year period fetuses with echogenic bowel (FEB) were retrospectively evaluated. The pregnancies with intra-amniotic bleeding history, congenital infection, cystic fibrosis and intrauterine growth retardation were excluded from the study. Types and frequency of sonographically detected fetal malformations were identified. Chromosomal abnormality incidences according to association with soft markers and major fetal abnormalities were compared.

Results: Of the 281 fetuses with echogenic bowel, 105 (37.37%) were isolated, 78 (27.76%) were associated with soft markers and 98 (34.87%) were associated with major abnormalities. There were 30 (10.7%) fetuses with abnormal karyotypes. The chromosomal abnormality rate of the groups of isolated FEB, FEB + soft markers and FEB + major abnormalities were 6.7%, 7.7% and 17.4%, respectively.

Conclusions: Chromosomal abnormality risk in fetuses with echogenic bowel should be evaluated according to additional sonographic findings. Association of structural malformations increases the chromosomal abnormality risk, although this risk is not significant with the presence of soft markers alone.

• Fetal anomaly
• fetal karyotype
• isolated echogenic bowel
• soft marker
• structural abnormality

Declaration of interest

The authors report no declarations of interest.