Prenatal and postnatal evaluation of cases with minor fetal abnormalities

Abstract

Objective: Prenatal detection of minor abnormalities by fetal ultrasonographic examination are associated with increased aneuploidy risk. The aim of the study was to evaluate the prenatal and postnatal outcomes of cases with minor fetal abnormalities.

Material and Methods: We reviewed 3833 women who had second-trimester ultrasonographic examination at Zeynep Kamil Research and Training Hospital, retrospectively. Three hundred sixty-nine women with fetal minor abnormalities were assigned to case group, 3464 women without fetal abnormality were assigned to control group.

Results: Two hundred ninety-five (79.95%) women had isolated fetal minor abnormality and 74 (20.05%) women had multiple minor abnormalities. There were 10 (3.4%) infants with trisomy 21, 1 (0.3%) infant with trisomy 18, 4 (1.4%) infants with cystic fibrosis, 2 (0.7%) infants with congenital cardiac anomalies, and 4 (1.4%) infants with congenital renal anomalies in the single minor fetal abnormality group. There were 7 (18.9%) infants with trisomy 21, 1 (2.7%) infant with trisomy 18, 3 (8.1%) infants with congenital cardiac anomalies, and 3 (8.1%) infants with congenital renal anomalies in cases with hyperechogenic foci in the fetal heart combined with any other minor markers.

Conclusion: There were statistically significant differences between the case group and control group with regard to aneuploidy. Isolated hyperechogenic bowel, isolated short femur-humerus and combination of hyperechogenic foci in the fetal heart, renal pyelectasis and hypoplasia of the nasal bone were associated with increased trisomy 21 risk.