Trysomy 18: an update on prenatal diagnosis and management. A case report

I. Dragan, C. Herghelegiu, S. Vladareanu, A. Moldoveanu, D. Oprescu

Abstract: Trisomy 18, also known as Edward’s syndrome, represents the second most common chromosomal abnormality after trisomy 21 or Down’s Syndrome, with an incidence of 1:6000 live births. However, the prevalence of the condition in the general population is significantly higher (i.e. 1:2000 pregnancies), and this is due mainly to the prenatal natural history of the condition which associates high rates of intrauterine fetal demise and pregnancy termination due to poor outcome. Although the prevalence of the condition has increased over the past 20 years mostly due to advanced maternal age at conception, the number of life births has decreased. Most obstetricians would agree that trisomy 18 is a lethal abnormality and would therefore counsel for termination of pregnancy leaving little, is any cases as evidence on the prenatal natural history of the condition. Interestingly, over the last couple of years, case report regarding infancy survival of children with trisomy 18 and their internet spread success-stories have begun to shift parental perception on the lethality of the condition. This case report of trisomy 18 is important because it presents the late third trimester diagnosis based on ultrasound features that are highly specific. It also reviews the few options of management available in a country were late termination is illegal.
DOI:10.18643/gieu.2017.30

Keywords: trisomy18, prenatal diagnosis, natural history, screening aneuploidy.