Trissomia 18: revisão dos aspectos clínicos, etiológicos, prognósticos e éticos

Abstract

Knowledge on the clinical picture and on the prognosis of Edwards syndrome patients is of great importance regarding the neonatal care and the decisions about invasive treatments. The speed to have a confirmed diagnosis is important for making decisions about medical procedures. Often, interventions are performed under emergency conditions, without many opportunities for discussion, and they involve difficult medical and ethical issues.

Trisomy 18: A Difficult Decision for the Family

“…Trisomy 18 is a syndrome with a very limited prognosis, involving more than 130 different abnormalities in the literature and affecting almost all organs and systems, none of which are pathognomonic [2]. In the etiology, it is caused by the incomplete disjunction of the 18th chromosome during the meiosis of the parents' germ cells.…”

“…Although advanced maternal age has been reported in multiple studies, trisomy 18 has also been described in young mothers, including those at the age of 20 [8]- [10]. It is twice more common in female babies [2] [4]- [7].…”

“…The incidence of pre-eclampsia in the mothers of trisomy 18 babies has been reported to be 12.5% -17% [2] [7]. The frequency of cesarean delivery is very high like 48% -90% and low Apgar scores at minutes 1 and 5, preterm labor, and low birth weight are common in these babies [2] [7] [12].…”

“…The appearance of overlapping fingers is typical. The most common congenital abnormalities are VSD, atrial septal defect (ASD), patent ductus arteriosus (PDA), and pulmonary hypertension [2] [7]. Lin et al reported 94% VSD, 77% PDA and 68% ASD in their series of 39 cases and found complex congenital heart defect in 32% [7].…”

“…It is estimated to occur in 1/3600 -1/8500 live births in different regions of the world such as North America, Europe, and Australia. It is two times more common in females [2]- [7].…”