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

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.

[Circulatory system in twin to twin transfusion syndrome]. / Uklad krazenia w zespole przetoczenia w ciazy blizniaczej.

BACKGROUND: Twin to Twin Transfusion Syndrome (TTTS) is a common and severe complication of monochorionic twin pregnancies associated with high perinatal loss rates and significant morbidity and morality in the surviving neonate. In recent years substantial progress has been made in understanding the pathogenesis, in the early diagnosis and methods of TTTS treatment, but many controversies still exist. Dynamic advance in the therapy of this foetal pathology considerably limited the morality: enlarging the number of neonates and children who require multidisciplinary intensive care. OBJECTIVE: The purpose of this study was to evaluate the circulatory system lesions in TITS during foetal life, after birth and in long term follow up. MATERIAL AND METHODS: We reviewed the available information on TTTS with special attention focused on circulatory system pathophysiology. CONCLUSIONS: A variety of cardiac system lesions seen in TTTS patients, many doubts and controversies concerning its aetiology and outcome create the necessity for further investigations including detailed circulatory system evaluation in the foetal life as well as in the neonatal period and long term follow-up.