Congenital cataract as an only sign in Down Syndome: case report

Case 

42 year old pregnant woman has been sent to perinatology policlinic for double test. Her first trimester combined test result was 1/1240. She was appointed for second trimester detailed sonography for advanced maternal age.Bilateral opacities in orbital examination were seen on sonography. She was given genetic consultation for this but she opted to continue her pregnancy without karyotyping. Planned c/s section was done for previous c/s endication at 39th week. A female 3450 gr fetüs was born with an Apgar score 8-9. Her face was characteristic with upward slanting of the palpebral fissures, congenital cataract and macroglosi. Postnatal karyotype was concordant with Down syndome.

Conclusion

In high risk groups orbital examination should be included in prenatal sonography.

Keywords

Down syndome, eye, cataract