Antenatal diagnosis of total anomalous pulmonary venous connection in functional single ventricle hearts: Outcomes over 13-year period.

INTRODUCTION: A functionally single cardiac ventricle seen on foetal ultrasound scan carries a guarded prognosis. The antenatal diagnosis of anomalous pulmonary venous connection (APVC) remains challenging, if there is no associated structural cardiac abnormality. Antenatally, a combination of complex cardiac anomaly with suspected isomerism should raise the possibility of associated total anomalous pulmonary venous connection (TAPVC). There needs to be a high index of suspicion for TAPVC, in functional single ventricle and suspected isomerism, as this carries a very grim outcome postnatally. We illustrate foetal echocardiographic findings of suspected TAPVC and review outcomes of antenatal versus postnatal diagnosis of TAPVC with functional single ventricle. METHODS: We retrospectively reviewed our database over 13 years, focusing on foetal cardiac diagnosis, pregnancy outcomes, management and outcomes of livebirths with diagnosis of TAPVC with functional single ventricle. RESULTS: Thirteen patients were included in the review. For the nine antenatal patients, three pregnancies were terminated and six babies were born alive (four babies had compassionate care, two babies had cardiac surgery). One baby is alive at 8.5 years, after Fontan surgery. For the four postnatal patients, three babies had compassionate care (one alive at age 8.1 years) and one baby had cardiac surgery (died age nine weeks). Ten of the 13 patients have right atrial isomerism. Of these 10 patients, only two are alive. For the three non-isomeric babies, only one baby is still alive. There is heterogeneity of the type of TAPVC diagnosed with no particular group that offered better survival. CONCLUSION: Antenatal diagnosis of TAPVC, even in the context of functional single ventricle remains challenging. If isomerism is suspected, targeted evaluation of pulmonary venous connection should be done. This combination of cardiac lesion carries a very grim outcome. The ability to make this diagnosis antenatally will add to the information and counselling given to these parents.

Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study.

BACKGROUND: Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. METHODS: From March 2008 to February 2010, 142 children with developmental quotient (DQ) <70 and without definitive etiologic diagnosis, were included. Prenatal and perinatal risk factors known to be associated with disordered neonatal brain function were identified. Participants underwent a thorough investigation, an individualized habilitation plan was recommended, and the children were followed-up regularly for a period of 2 < years. The effect of prenatal and perinatal risk factors on the severity and outcome of GDD was assessed by regression analysis. RESULTS: The mean age at enrolment was 31 ± 12 < months, and the mean DQ 52.2 ± 11.4. Prematurity and intrauterine growth restriction (IUGR) were found to be independently associated with lower DQ values. The mean DQ after the 2-year follow-up was 62.5 ± 12.7, and the DQ difference from the enrollment 10.4 ± 8.9 (median 10; range-10 to 42). DQ improvement (defined as a DQ difference?≥?median) was noted in 52.8% of the children. IUGR, low socio-economic status, and poor compliance to habilitation plan were found to be independently associated with poorer developmental outcomes. CONCLUSIONS: Prematurity and IUGR were found to be significantly and independently related to the severity of GDD in cases without definitive etiologic yield. Poorer 2-year developmental outcome was associated with IUGR, low socioeconomic status and non compliance to habilitation plan. Prematurity was a significant determinant of the outcome only in association with the above mentioned factors.

Trends of transcutaneous bilirubin in neonates who develop significant hyperbilirubinemia.

OBJECTIVES: To provide data on the natural course of transcutaneous bilirubin (TcB) levels in neonates before the development of significant hyperbilirubinemia, and to assess the effect of different demographic and perinatal factors on the rate of TcB increase. METHODS: We analyzed 2454 TcB measurements from 419 neonates before the development of significant hyperbilirubinemia. Mean TcB values and TcB percentiles for designated times were calculated, and the effect of different risk factors on the rate of TcB increase was assessed. TcB percentile curves were plotted for comparison on a population-based TcB nomogram. RESULTS: Blood incompatibilities and glucose-6-phosphate dehy-drogenase deficiency were associated with higher rates of TcB in-crease during the first 36 to 48 postnatal hours, whereas smaller gestational age, increased weight loss, and exclusive breastfeeding had a similar but later effect. Compared with general population norms, a different pattern of TcB increase was noted in neonates who developed significant hyperbilirubinemia, but with a sub-stantial overlap of TcB values during the first 24 to 48 postnatal hours. CONCLUSIONS: We provide data on the natural course of TcB levels before the development of significant hyperbilirubinemia in a white population of term and near-term neonates. Smaller gestational age, blood incompatibilities, glucose-6-phosphate dehydrogenase deficiency, increased weight loss, and exclusive breastfeeding significantly affected the rate of TcB increase in a time-dependent manner. These findings may assist in assessing the risk for significant hyperbilirubinemia and planning appropriate follow-up strategies for neonates with borderline bilirubin levels.

Transcutaneous bilirubin levels in late preterm neonates.

OBJECTIVE: To examine transcutaneous bilirubin (TcB) levels in late preterm neonates. STUDY DESIGN: Between July 2006 and December 2009, we performed 4387 TcB measurements with a BiliCheck bilirubinometer in 793 healthy late preterm neonates at designated times up to 120 postnatal hours. TcB percentiles are presented on an hour-specific nomogram. Mean increment TcB rates and the rates of increase for different percentiles are calculated as well. RESULTS: We present a percentile-based nomogram that reflects the natural history of TcB in late preterm neonates up to the fifth day of life. TcB levels demonstrated a different pattern of increase in neonates who developed significant hyperbilirubinemia compared with those who did not. However, the rates of TcB increase were quite similar up to age 48 hours, with a substantial overlap of TcB values between the two groups. CONCLUSIONS: We developed of a TcB nomogram designated for hour-specific evaluation of hyperbilirubinemia in neonates born between 35(0/7) and 37(6/7) weeks' gestation.

Transcutaneous bilirubin levels for the first 120 postnatal hours in healthy neonates.

OBJECTIVE: The objective of this study was to provide data on transcutaneous bilirubin (TcB) levels for the first 120 postnatal hours and to develop an hour-specific TcB nomogram for healthy term and near-term neonates. METHODS: From September 2005 to August 2008, we obtained 14864 TcB measurements from 2818 healthy neonates (gestational age >or= 35 weeks and birth weight >or= 2000 g). All measurements were performed with the BiliCheck bilirubinometer, at designated times from 12 to 120 postnatal hours. TcB percentiles for each designated time were calculated and used for the development of an hour-specific nomogram. TcB percentiles for neonates who required phototherapy are also presented. RESULTS: The developed TcB nomogram reflects the natural history of TcB levels in healthy neonates up to the fifth postnatal day. A different pattern of TcB increasing rate was noted in neonates who did and did not require phototherapy but with substantial overlap of TcB values between the 2 groups. CONCLUSIONS: We provide data on TcB levels for the first 120 postnatal hours from a large population of white, healthy, term and near-term neonates. We also present a percentile-based TcB nomogram designated for noninvasive and hour-specific evaluation of neonatal hyperbilirubinemia.

Transcutaneous bilirubin nomogram for prediction of significant neonatal hyperbilirubinemia.

OBJECTIVE: The goal was to develop a predictive nomogram, based on transcutaneous bilirubin (TcB) measurements, for assessment of the risk of significant hyperbilirubinemia in healthy term and near-term neonates. METHODS: A total of 10382 TcB measurements were performed with 2039 healthy neonates (gestational age of > or =35 weeks and birth weight of > or =2000 g), with a BiliCheck bilirubinometer (SpectRx, Norcross, GA), at designated time points between 12 and 120 hours of life. According to their severity, these TcB measurements were selectively cross-checked with a direct spectrophotometric device, and significant hyperbilirubinemia was defined on the basis of the hour-specific threshold values for phototherapy proposed by the American Academy of Pediatrics. With the use of likelihood ratios (LRs), the high- and low-risk demarcators for each designated time were calculated and presented on an hour-specific nomogram. RESULTS: Significant hyperbilirubinemia was documented for 122 neonates (6%). At 24 hours of life, the high-risk zone of the nomogram had 73.9% sensitivity and a positive LR of 12.1 in predicting significant hyperbilirubinemia, whereas the low-risk zone had 97.7% sensitivity and a negative LR of 0.04. At 48 hours, the high-risk zone had 90% sensitivity and a positive LR of 12.1, whereas the low-risk zone had 98.8% sensitivity and a negative LR of 0.02. In our study population, the probability of significant hyperbilirubinemia would be >35% for values in the high-risk zone and <0.5% for values in the low-risk zone of the nomogram. CONCLUSIONS: We provide a predictive TcB tool that could allow for a noninvasive, risk-based approach to neonatal hyperbilirubinemia.

ROTASCORE Study: epidemiological observational study of acute gastroenteritis with or without rotavirus in Greek children younger than 5 years old.

We present the results of a prospective multi-center, community-based epidemiological observational study regarding the clinical burden of pediatric rotavirus gastroenteritis (PRG) in Greece.