[Clinical courses of trisomy 18 (Edwards syndrome) - an update]. / Klinische Verläufe bei Trisomie 18 (Edwards-Syndrom) - Ein Update.

ABSTRACT

BACKGROUND: In current literature the prognosis of trisomy 18 is mainly described as inevitably lethal. After intervention of parental organisations infants have been treated with cardio surgery in the USA, later in Europe as well with good results. We report the consequences of this and similar developments on our pre- und postnatal approach after diagnosis in our department. PATIENTS AND CASE REPORTS 2 parents decided to carry the child to term after the recommendation for abortion. According to standard perinatological aspects one child was vaginally delivered, the second with Caesarean section. After informed consent with the parents we planned a supportive management without more resuscitation than stimulation and ventilation by mask. Both children could be stabilised with nasal CPAP. The first one had been operated on a double outlet right ventricle at the age of 6 months, the second needed to be operated for diaphragm hernia. The third child had been delivered by emergency Caesarean section. A bilateral choanal atresia had been operated in the first week of life, a double outlet right ventricle at the age of 15 days. One child is fed by a nasogastric tube, one is bottle-fed and one had a percutanous gastric tube until he died due to septicaemia, all have statomotorically retardation and had periods of pulmonary hypertension. The social situation of the families is characterised by a stable parental relationship and a safe socio-economical status. None of the children had an acute lethal malformation. DISCUSSION: In single cases a prospective management in patients with trisomy 18 can be possible. Besides medical issues, the emotional parental wish, their social network and economical status are crucial. CONCLUSION: The prognosis of trisomy 18 is poor. 3 patients and 20 months do not allow any general statements. However, our recent experience and the courses in the recent literature show that in single cases a more prospective management is possible.