Edward syndrome: a case report. Perinatal Journal 2014;22(3):SE12
- S.B. Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Perinatoloji Kliniği- İstanbul TR
Murat Muhçu, S.B. Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Perinatoloji Kliniği- İstanbul TR,
Conflicts of Interest
No conflicts declared.
Edward syndrome, is the second common autosomal trisomy and most of the cases are lost during their first year of life because of severe cardiac pathologies. We aimed to present a case of Edward Syndrome which is prenatally diagnosed and to discuss the management in these cases.
A 35-year-old gravida 2, para 1 patient was referred to our clinic at 17 weeks gestation. A detailed ultrasound scan was revealed that alobar holoprosencephaly, proboscis, hypotelorism, polydactyly and midfacial cleft palate-lip. Parents were informed about the fetal prognosis and termination of pregnancy was put forward as an option. Karyotype analysis was performed.
Edward Syndrome can include holoprosencephaly and midfacial defects. Karyotype analysis should be performed and termination of pregnancy should be offered as an option for these cases.
Edward Syndrome, Trisomy 18, Prenatal diagnosis
Edward Syndrome- Polydactyly
Edward Syndrome- Facial Defects,Proboscis