Edward syndrome: a case report

Objective 

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.

Case 

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.

Conclusion 

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.

Keywords

Edward Syndrome, Trisomy 18, Prenatal diagnosis

	File/Dsecription
	Figure 1 Edward Syndrome- Polydactyly
	Figure 2 Edward Syndrome- Facial Defects,Proboscis
	Figure 3 Edward Syndrome-Holoprosencephaly