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.

[Analysis of the cardiac arrhythmias in premature infants throughout the 24 hours following birth using Holter method]. / Holterowska ocena zaburzen rytmu serca u wczesniaków w pierwszej dobie zycia.

The aim of the study was to determine the heart rhythm (the frequency and disturbances) in premature infants in satisfactory clinical condition throughout the 24 hours following birth using Holter method. The influence of some maternal parameters (number of previous pregnancies, delivery mode, usage of pregnancy maintaining drugs) on newborn's heart rhythm and the influence of child's parameters (sex, birthweight, gestational week, clinical state according to Apgar score) were studied. Digital Holter registration system with two channels real-time recording Silicon Beat 2000 version 3.2 by Medea (Poland) was used. Sixty two premature infants were studied. Cardiac arrhythmias were found in 38 cases. They were mainly benign disturbances. The most frequent ones were supraventricular extrasystolic beats. The analysis of the influence of definitive features of mothers and children on arrhythmias and the values of heart rate revealed, that in naturally born infants naturally born and in these ones with low Apgar score the supraventricular extrasystolic beats were significantly more common as compared with those born by Caesarean section and with higher Apgar score. In younger subjects (< 30 gestation weeks) and with lower birthweight (< 2000 g) the sinus tachycardia was significantly more frequent as compared with older and heavier ones.

[Significant aortic valve stenosis in the prenatal period--diagnosis, treatment, outcome. Two-center study]. / Istotne zwezenie zastawki aortalnej w okresie prenatalnym--diagnostyka, rokowanie, leczenie. Badania dwuosrodkowe.

OBJECTIVE: Retrospective analysis of the spectrum of fetal aortic valve stenosis with completed neonatal follow-up. METHODS: Fetal echocardiograms of 12 fetuses with aortic stenosis (AS) were analyzed. Mean gestational age at the time of diagnosis was 29.6 weeks. RESULTS: In all 12 cases critical AS has been detected. The left ventricle was estimated as small in three cases, in 7 cases as enlarged and hypokinetic LV (SF<28%) and in the next two cases the LV was well formed. In 6 AS cases, endocardial fibro-elastosis has been detected. Six fetuses presented mitral valve insufficiency; in three cases small LV mitral valve stenosis was diagnosed. Cardiomegaly occurred in 7 cases, including 5 cases with HA/CA > 0.5. Hypoplastic aorta has been detected in 2 cases and in one coarctation of the aorta. Retrograde flow in aortic arch and poor left ventricular function was diagnosed in ten cases. In 2 fetuses extracardiac malformations were present: hydrocephalus and pylorostenosis. In 83% of the cases CS had been performed and 17% were delivered vaginally (2 intrauterine fetal deaths). Four neonates had been qualified to percutaneous balloon valvuloplasty, in three cardiac surgery had been performed. Three neonates with AS (25%) survived--two after valvuloplasty (one of them required also cardiac surgery) and one after Norwood procedure. CONCLUSIONS: 1. Poor prognostic factors for neonates with critical fetal AS were as follows: small LV, retrograde flow in aortic arch, poor left ventricular function and presence of extracardiac anomalies. 2. Neonates who survived with fetal SA, had isolated CHD and well formed LV (also with endocardial fibroelastosis).

[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.