Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome

Abstract

The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, severe anomalies of digestive system or abdominal wall in 25% of patients. Nine surgical operations were performed during hospitalization (4 were palliative cardiac surgeries). Six patients (30%) survived the neonatal period and were discharged from the NICU. The median survival of the neonates who died was 20 days. In 4 cases cardiac problems implicated their death; in others, deaths were attributed to multiorgan failure, prematurity and/or infection. Further improvement of efficiency of prenatal ultrasound screening for diagnosis of trisomy 18 in the fetus is necessary. A lack of prenatal diagnosis of trisomy 18 in the fetus results in a high rate of unnecessary caesarean sections in these pregnancies. Despite the aggressive treatment most neonates with trisomy 18 died during the neonatal period. The majority of deaths were attributed to cardiorespiratory and multiorgan failure. Concerning the poor prognosis, prompt karyotyping (using FISH) of clinically suspected trisomy 18 is very important, because many invasive procedures and surgeries may then be avoided.

Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

“…Little valuation of life is evidenced in the recommendations of Goc et al [14]. The authors do not recommend caesarean sections or surgery in the immediate postnatal period for newborns with t18.…”

“…Writers in the areas of palliative care and bioethics largely recommend limited medical intervention or only the provision of comfort care for this population [12][13][14][15][16].…”

Klinische Verläufe bei Trisomie 18 (Edwards-Syndrom) – Ein Update

“…Zu diesem Zeitpunkt traf dann auch das Ergebnis der aufgrund der Fehlbildungen durchgef ü hrten Chromosomenanalyse ein und best ä tigte die Verdachtsdiagnose Trisomie18. [9,13] . Der erste Patient mit Trisomie 18, der am Herzen operiert wurde, lebte anschlie ß end noch mehr als 2 Jahre [12,15] .…”

“…Neben den akut lebensbedrohlichen Faktoren ist die oft fehlende neurologische Entwicklung ein Hauptaspekt von Menschen mit Trisomie 18. Bemerkenswert ist dabei, dass die Eltern die Entwicklungsretardierung weniger schwer einsch ä tzen als der behandelnde Arzt [8,9] . Trotz schwerer Sch ä den erreichen manche Kinder Meilensteine, machen wenige und langsame Entwicklungsschritte und sind in geringem Masse zu nonverbaler Kommunikation und sozialer Interaktion in der Lage [10] .…”

FlashFISH™: a novel technique for rapid diagnosis of aneuploidies in dysmorphic neonates

“…Rapid aneuploidy detection (RAD) methods such as quantitative fluorescence PCR (QF-PCR), fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and BACs-on-Beads were developed with the primary aim to alleviate parental anxiety [1][2][3][4][5][6]. In addition, RAD methods will allow invasive procedures and surgeries to be avoided in aneuploidies with poor prognosis [7]. However, these methods are unable to produce results within the same day of sample collection due to technical limitations.…”