Prenatal ultrasound of fetus with echogenic bowel and complicated structural abnormalities/chromosome abnormality / 中华医学超声杂志（电子版）

ABSTRACT

Objective To explore the prenatal ultrasonographic features of fetuses diagnosed as echogenic bowel and chromosomal abnormalities. Methods From September 2009 to June 2013, eighty cases diagnosed as echogenic bowel by prenatal ultrasound screening in our hospitals underwent chromosomal karyotype analysis and were followed up till fetal birth. The prenatal ultrasonographic features were carefully correlated with the postnatal findings. Results Prenatal ultrasoundand chromosomal findings of the 80 cases were(1) Fifty-eight cases of fetuses with echogenic bowel alone (72.5%, 58/80, without chromosomal karyotype abnormalities). (2) Eleven cases of fetuses with additional ultrasound soft markers (13.8%, 11/80, without chromosomal karyotype abnormalities). The ultrasound examination revealed 8 cases of choroid plexus cysts, 1 case of single umbilical artery, 1 case of shorter nasal bone, and 1 case of echogenic intracardiac focus. (3) Five cases of fetuses with severe functional abnormalities or complex structural malformations and normal chromosomal karyotype. The ultrasound examination revealed 3 cases of structural cardiac malformations, 1 case of heart failure and 2 cases of central nervous system malformations. Of them,one case showed complex malformations (right ventricular dysplasia syndrome, cerebellar dysplasia and single umbilical artery), whereas the remaining 4 cases only involve single malformation. (4)Six cases had chromosomal abnormalities (7.5%, 6/80), including 3 cases of abnormal chromosome microdeletions, and 3 cases of abnormal chromosome numbers (1 21-trisomy syndrome, 1 18-trisomy syndrome, and 1 triploid syndrome). All of them had severe structural malformations and abnormal soft markers. The ultrasound examination revealed 2 cases of severe cardiac malformations, 2 cases of central nervous system malformations, 1 case of pericardial/peritoneal effusion, and 1 case of placental chorionic multiple hemangioma. One case of holoprosencephaly (donor of the twins) ended with intrauterine death. The associated abnormal soft markers include nuchal fold (NF) thickening, choroid plexus cysts, umbilical cord cysts, single umbilical artery, and placental chorionic hemangioma. Conclusions The fetuses with echogenic bowelaloneusualyhaveagoodprognosis.Insomecases,echogenicbowelmaydisappearduringvfolow-up.The fetuses complicated with severe structural malformations and chromosomal abnormalities have poor prognosis. For the fetuses diagnosed of echogenic bowel by prenatal ultrasound screening, systematic ultrasound examination should be carried out and clinical chromosomal karyotype analysis was suggested.