Trisomy 18 (Edward Syndrome) - A Case Report Diagnosis and Management

Ni Luh Lany Christina Prajawati ^[2] | Anak Agung Gede Putra Wiradnyana ^[6]

Abstract: Trisomy 18 (Edward Syndrome) is the second most common autosomal trisomy in newborn and almost always lethal, in 95 % survive less than a month and 5 % life to a year. The incidence is about 1 in 5000 live birth. We present a case of Edward Syndrome due to its rarity. A 39 y. o. female, G3P2A0 came with polyhydramnion, breech presentation and fetal multiple congenital abnormalities (Ventricular Septal Defect - Cardiomegaly, Omphalocele, Dandy Walker Malformation) at 22-23 weeks GA. Amniocentesis done at 23-24 weeks GA, with karyotyping result 47 XX + 18 (Edward Syndrome). It decided to do pregnancy termination with C-section and sterile at 27 weeks GA with delivery of 810 gram female baby, Apgar scores 8-9, congenital abnormalities (Strawberry shaped fetal head, Cyanotic Congenital Heart Disease-VSD, Rupture of Giant Omphalocele sac, clenched fists with overlapping fingers which matched with Edward Syndrome. The baby was died 2 days after born. In conclusion, Edward syndrome is a rare genetic disorder associated with multisystem involvement. Hence, data collection and frequent review of cytogenetically proven cases is must to study in detail about the association of genetic defect and organ system involved. It is also helpful to compare with other known genetic disorder.

Keywords: Karyotyping, Amniocentesis, Edward Syndrome, Ventricular Septal Defect, Omphalocele, Dandy Walker Malformation

Edition: Volume 7 Issue 9, September 2018,

Pages: 201 - 203