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Background Congenital diaphragmatic hernia (CDH) is associated with high neonatal mortality. We performed this study to test the hypothesis that left ventricular (LV) and right ventricular (RV) volumes assessed by three-dimensional echocardiography may be associated with mortality in CDH. Methods This study was a single-center retrospective cohort study involving 35 infants with CDH. RV and LV end-diastolic volume (RVEDV and LVEDV, respectively) were measured by three-dimensional echocardiography and were corrected by birth body weight (BBW) on day 1. RVEDV/BBW, LVEDV/BBW, and LVEDV/RVEDV were compared between CDH survivors and non-survivors. Receiver-operating characteristic curve analysis was performed to assess the predictive ability for mortality of the echocardiographic parameters. Results Comparing CDH non-survivors (n = 6) with survivors (n = 29), respectively, RVEDV/BBW was significantly larger (2.54 ± 0.33 vs 1.86 ± 0.35 ml/kg; P P P Conclusions Three-dimensional echocardiographic volume imbalance between the RV and LV was remarkable in CDH non-survivors. The LVEDV/RVEDV ratio may be associated with mortality in CDH. Impact Mortality with congenital diaphragmatic hernia (CDH) is high, and evaluating left and right ventricular structures and functions may be helpful in assessing the prognosis. Three-dimensional (3D) echocardiography indicated that the left ventricular end-diastolic volume/right ventricular end-diastolic volume ratio within 24 h after birth was associated with mortality in CDH infants. The usefulness of this ratio should be validated in prospective multicenter studies involving larger numbers of patients.

OBJECTIVES The purpose of this study is to review the short- and long-term outcomes of high-risk neonates with Ebstein anomaly treated with a newly developed rapid 2-stage Starnes procedure, which is aimed at reducing the size of the enlarged right side of the heart. METHODS Fifty-two foetuses with Ebstein anomaly were analysed in this study and divided into 2 groups. The control group comprised 25 foetuses, referred to us before 2008, and the study group was composed of 27 foetuses, referred to us after 2009. The right atrial area index was defined as high risk when it was >1.5. We applied our management approach to 6 high-risk neonates in the study group. This approach consisted of reducing the size of the right side of the heart through a 2-stage process: (i) right atrial plication without the use of a bypass and (ii) a Starnes procedure. Cox proportional hazards models were used to evaluate the effects of our management approach on the survival rates of the neonates. RESULTS The mean follow-up period was 7.5 ± 3.3 years. All 6 high-risk neonates in the study group survived. The overall hazard ratio was 0.12 (95% confidence interval of 0.03–0.43) in the study group as compared with the control group (P = 0.0007). A Fontan operation was completed in all but 1 case, with the remaining case awaiting a Fontan operation. CONCLUSIONS We suggest that a rapid 2-stage Starnes approach can be effective in the treatment of high-risk neonates with Ebstein anomaly.

After birth, the ductus venosus becomes an important route connecting the pulmonary and systemic venous systems for survival in infracardiac total anomalous pulmonary venous connection. We encountered a fetal case of right atrial isomerism with infracardiac total anomalous pulmonary venous connection and agenesis of ductus venosus. Prenatal echocardiography suggested that the fetus had severe pulmonary venous obstruction; however, no obstructive lesions were detected at the level of the vertical vein that drained into the portal veins. Therefore, we concluded that emergency surgical pulmonary venous obstruction release was the only way for the fetus to survive. However, the saturation level was maintained above 70% due to the abundant communications via the hepatic sinusoid over 1 week after birth. In conclusion, hepatic sinusoids can be a sufficient route for pulmonary venous return and may not cause severe pulmonary venous obstruction in infracardiac total anomalous pulmonary venous connection with agenesis of ductus venosus.

Background Standardized treatment of fetal tachyarrhythmia has not been established. Objectives This study sought to evaluate the safety and efficacy of protocol-defined transplacental treatment for fetal supraventricular tachycardia (SVT) and atrial flutter (AFL). Methods In this multicenter, single-arm trial, protocol-defined transplacental treatment using digoxin, sotalol, and flecainide was performed for singleton pregnancies from 22 to Results A total of 50 patients were enrolled at 15 institutions in Japan from 2010 to 2017; short ventriculoatrial (VA) SVT (n = 17), long VA SVT (n = 4), and AFL (n = 29). One patient with AFL was excluded because of withdrawal of consent. Fetal tachyarrhythmia resolved in 89.8% (44 of 49) of cases overall and in 75.0% (3 of 4) of cases of fetal hydrops. Pre-term births occurred in 20.4% (10 of 49) of patients. Maternal AEs were observed in 78.0% (39 of 50) of patients. Serious AEs occurred in 1 mother and 4 fetuses, thus resulting in discontinuation of protocol treatment in 4 patients. Two fetal deaths occurred, mainly caused by heart failure. Neonatal tachyarrhythmia was observed in 31.9% (15 of 47) of neonates within 2 weeks after birth. Conclusions Protocol-defined transplacental treatment for fetal SVT and AFL was effective and tolerable in 90% of patients. However, it should be kept in mind that serious AEs may take place in fetuses and that tachyarrhythmias may recur within the first 2 weeks after birth.

Background Few studies have investigated the developmental prognosis of very-low-birth-weight (VLBW) infants with congenital heart diseases (CHDs). This study aimed to determine the mortality and morbidity, including the developmental prognosis, of VLBW infants with CHD. Methods This single-center, retrospective cohort study included VLBW infants admitted to the neonatal intensive care unit from January 2006 to December 2011. Perinatal records were reviewed for CHD diagnosis, treatment details, comorbidities, mortality, and long-term neurodevelopmental outcomes. The characteristics and neurological developmental quotients at around the age of three years were compared among the following three groups of VLBW infants with CHDs: biventricular circulation without intervention (without surgery), biventricular circulation with intervention (catheter intervention or one-stage surgery), and single-ventricular circulation (Fontan-type multiple-stage surgery). Results Among a total of 449 VLBW infants admitted during this period, 45 (10.0%) infants had CHDs, including 25 infants with congenital abnormalities (chromosomal abnormalities and/or multiple anomalies). All 13 infants who died before discharge had congenital abnormalities. The incidence rates of comorbidities were not higher in VLBW infants with CHDs than in those without CHDs. The developmental quotients of the no-surgery, catheter intervention or one-stage surgery, and Fontan-type multiple-stage surgery groups were 87.2 ± 10.9, 91.3 ± 4.7, and 63.7 ± 8.6, respectively. Conclusions The neurological development at around the age of three years in VLBW infants with biventricular circulation was in the borderline to normal range, however, that in those with single-ventricular circulation was poor. Further studies are needed to better comprehend the neurological development of VLBW infants with CHDs.

To investigate the clinical course of fetal tachycardia and analyze the impact of intrauterine treatment on the postnatal treatment and patient outcomes.This was a retrospective review of cases of fetal tachycardia that occurred from 2004 to 2006. Data were collected from questionnaires that were sent to all 750 secondary or tertiary perinatal care centers in Japan.Eighty-two cases (14 with fetal hydrops) were analyzed (supraventricular tachycardia [SVT], n = 52; atrial flutter [AFL], n = 23; and ventricular tachycardia, n = 7). The overall mortality was 3.7%. Intrauterine treatment was performed for 41 fetuses (50.0%). Digoxin, flecainide and sotalol were mainly used for SVT and AFL. Fetal tachycardia resolved in 90.0% (27/30) of the cases without fetal hydrops and 90.9% (10/11) of the cases with fetal hydrops. Intrauterine treatment significantly reduced the incidence of cesarean delivery (29.3 vs. 70.7%, p .01), preterm birth (12.2 vs. 41.5%, p = .02) and neonatal arrhythmias (48.8 vs. 78.0%, p = .01) in comparison to untreated fetuses.This nationwide survey revealed that intrauterine treatment was performed for approximately half of the cases of fetal tachycardia and was associated with lower rates of cesarean delivery, premature birth and neonatal arrhythmias in comparison to untreated fetuses.

Standardized treatment of fetal tachyarrhythmia has not been established.This study sought to evaluate the safety and efficacy of protocol-defined transplacental treatment for fetal supraventricular tachycardia (SVT) and atrial flutter (AFL).In this multicenter, single-arm trial, protocol-defined transplacental treatment using digoxin, sotalol, and flecainide was performed for singleton pregnancies from 22 to 37 weeks of gestation with sustained fetal SVT or AFL ≥180 beats/min. The primary endpoint was resolution of fetal tachyarrhythmia. Secondary endpoints were fetal death, pre-term birth, and neonatal arrhythmia. Adverse events (AEs) were also assessed.A total of 50 patients were enrolled at 15 institutions in Japan from 2010 to 2017; short ventriculoatrial (VA) SVT (n = 17), long VA SVT (n = 4), and AFL (n = 29). One patient with AFL was excluded because of withdrawal of consent. Fetal tachyarrhythmia resolved in 89.8% (44 of 49) of cases overall and in 75.0% (3 of 4) of cases of fetal hydrops. Pre-term births occurred in 20.4% (10 of 49) of patients. Maternal AEs were observed in 78.0% (39 of 50) of patients. Serious AEs occurred in 1 mother and 4 fetuses, thus resulting in discontinuation of protocol treatment in 4 patients. Two fetal deaths occurred, mainly caused by heart failure. Neonatal tachyarrhythmia was observed in 31.9% (15 of 47) of neonates within 2 weeks after birth.Protocol-defined transplacental treatment for fetal SVT and AFL was effective and tolerable in 90% of patients. However, it should be kept in mind that serious AEs may take place in fetuses and that tachyarrhythmias may recur within the first 2 weeks after birth.

Background: Standardized treatment of fetal supraventricular tachycardia (SVT) and atrial flutter (AFL) has not been established. The aim of this study was to evaluate the safety and efficacy of protocol-defined transplacental treatment for fetal SVT and AFL. Methods: In this multicentre single-arm trial (UMIN Clinical Trials Registry number 000004270), protocol-defined transplacental treatment using digoxin, sotalol, and flecainide was performed for singletons from 22 to

The optimal surgical approach for neonatal congenital diaphragmatic hernia (CDH) remains unclear. We conducted a systematic review and meta-analysis of the effectiveness of endoscopic surgery (ES) for neonatal CDH. A systematic literature search was conducted using MEDLINE and the Cochrane Library. Studies that compared surgical approaches for neonatal CDH were selected. Mortality and recurrence of herniation were analyzed as primary endpoints. Each study was evaluated following the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. Eight observational studies comparing ES and open surgery (OS) met the criteria. As compared with the OS group, the ES group showed both a significantly lower mortality rate [risk ratio (RR) 0.18, 95 % confidence interval (CI) 0.09–0.38, p

BACKGROUND Because there is limited information on fetal bradyarrhythmia associated with congenital heart defects (CHD), we investigated its prognosis and risk factors. METHODS AND RESULTS In our previous nationwide survey of fetal bradyarrhythmia from 2002 to 2008, 38 fetuses had associated CHD. Detailed clinical data were collected from secondary questionnaires on 29 fetuses from 18 institutions, and were analyzed. The 29 fetuses included 22 with isomerism, 4 with corrected transposition of the great arteries (TGA) and 3 with critical pulmonary stenosis; 14 had complete atrioventricular block (AVB), 8 had second-degree AVB, and 16 had sick sinus syndrome; 5 died before birth, and 10 died after birth (5 in the neonatal period). Neonatal and overall survival rates for fetal bradyarrhythmia with CHD were 66% and 48%, respectively. Pacemaker implantation was needed in 17 cases (89%). Beta-sympathomimetics were administered in utero in 13 cases and were effective in 6, but were not associated with prognosis. All cases of corrected TGA or ventricular rate ≥70 beats/min survived. A ventricular rate

We present the case of a neonate who was successfully treated with emergency hybrid palliation soon after birth, including a stent insertion into a severely thickened atrial septum and bilateral pulmonary artery banding. The patient was prenatally diagnosed with severe pulmonary venous hypertension owing to mitral atresia and intact atrial septum associated with functional single ventricle and coarctation of the aorta.

Preterm infants frequently experience pulmonary hemorrhage or cerebral intraventricular hemorrhage after birth. The immature myocardium of the left ventricle faces a high afterload after the baby is separated from the placenta. However, the preterm left ventricle has limited ability to respond to such an increase in afterload. This results in depressed cardiac function and a deterioration in hemodynamics. We speculated that the perinatal deterioration in cardiac performance would be closely related to serious hemorrhages. To prove our hypothesis, we studied the interrelationship between the perinatal changes in cardiac performance and the incidences of intraventricular and pulmonary hemorrhage. We obtained the stress-velocity relationship (rate-corrected mean fiber shortening velocity and end-systolic wall stress relationship) by M-mode echocardiography and arterial blood pressure measurement. We found that the incidences of intraventricular and/or pulmonary hemorrhages were higher in infants with an excessive afterload, which resulted in a decrease in the function of the left ventricle. We suggest that careful attention to keep the afterload at an acceptable level by vasodilator therapy and sedation may reduce or prevent these serious complications. In this review, we will discuss our data along with related literature.

Background: There are few large studies of fetal congenital bradyarrhythmia. The aim of the present study was to investigate the effects and risks of transplacental treatment for this condition. Methods and Results: Using questionnaires, 128 cases of fetal bradyarrhythmia were identified at 52 Japanese institutions from 2002 to 2008. Of the 128 fetuses, 90 had structurally normal hearts. Among these 90 fetuses, 61 had complete atrioventricular block (CAVB), 16 had second-degree AVB, 8 had sinus bradycardia, and 5 had other conditions. The 61 CAVB fetuses were divided into those who did (n=38) and those who did not (n=23) receive transplacental medication. Monotherapy with β-sympathomimetics, steroid monotherapy, and combination therapy with these agents was given in 11, 5 and 22 cases, respectively. Beta-sympathomimetics improved bradycardia (P 10 weeks on steroids (P=0.043). Conclusions: Treatment with β-sympathomimetics improved bradycardia, but survival rate did not differ significantly in fetuses with and without transplacental medication. It is recommended that steroid use should be limited to

Objectives To document outcome and to explore prognostic factors in fetal left congenital diaphragmatic hernia (CDH). Methods This was a multicenter retrospective study of 109 patients with prenatally diagnosed isolated left CDH born between 2002 and 2007. The primary outcome was intact discharge, defined as discharge from hospital without major morbidities, such as a need for respiratory support including oxygen supplementation, tube feeding, parenteral nutrition or vasodilators. All patients were managed at perinatal centers with immediate resuscitation, gentle ventilation (mostly with high-frequency oscillatory ventilation) and surgery after stabilization. Prenatal data collected included liver and stomach position, lung-to-head ratio, gestational age at diagnosis and presence or absence of polyhydramnios. Stomach position was classified into four grades: Grade 0, abdominal; Grade 1, left thoracic; Grade 2, less than half of the stomach herniated into the right chest; and Grade 3, more than half of the stomach herniated into the right chest. Results Overall intact discharge and 90-day survival rates were 65.1% and 79.8%, respectively. Stomach herniation was classified as Grade 0 in 19.3% of cases, Grade 1 in 45.9%, Grade 2 in 13.8% and Grade 3 in 21.1%. Multivariate analysis revealed that liver position was the strongest prognostic variable for intact discharge, followed by stomach position. Based on our results, we divided patients into three groups according to liver (up vs. down) and stomach (Grade 0–2 vs. Grade 3) position. Intact discharge rates declined significantly from liverdown (Group I), to liver-up with stomach Grade 0–2 (Group II), to liver-up with stomach Grade 3 (Group III) (87.0%, 47.4% and 9.5% of cases, respectively). Conclusion Current status and outcomes of prenatally diagnosed left CDH in Japan were surveyed. Stomach herniation into the right chest was not uncommon and its grade correlated with outcome. The combination of liver and stomach positions was useful to stratify patients into three groups (Group I–III) with different prognoses. Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd.

To review the recent Japanese experience with prenatally diagnosed congenital diaphragmatic hernia (CDH) based on a multi-institutional survey. A multicenter, retrospective cohort study was conducted on 117 patients born between 2002 and 2007 with isolated prenatally diagnosed CDH. All patients were managed by maternal transport, planned delivery, immediate resuscitation and gentle ventilation. The primary outcome measurements were the 90-day survival and intact discharge. The examined prenatal factors included gestational age (GA) at diagnosis, lung-to-head ratio (LHR), lung-to-thorax transverse area ratio (L/T) and liver position. Physical growth and motor/speech development were evaluated at 1.5 and 3 years of age. Data were expressed as the median (range). The mean GA at diagnosis was 29 (17–40) weeks. The LHR and L/T were 1.56 (0.37–4.23) and 0.11 (0.04–0.25), respectively. There were 48 patients with liver up. The mean GA at birth was 38 (28–42) weeks. The 90-day survival rate and intact discharge rate were 79 and 63%, respectively. Twelve patients had major morbidity at discharge, and 71% of these patients had physical growth or developmental retardation at 3 years of age. This multicenter study demonstrated that the 90-day survival rate of isolated prenatally diagnosed CDH was 79%, and that subsequent morbidity remained high. A new treatment strategy is needed to reduce the mortality and morbidity of severe CDH.

An accurate prenatal assessment of the patients' severity is essential for the optimal treatment of individuals with congenital diaphragmatic hernia (CDH). The purpose of this study was to clarify the reliability of the lung to thorax transverse area ratio (L/T) as a prenatal predictive parameter.A multicenter retrospective cohort study was conducted on 114 isolated CDH fetuses with a prenatal diagnosis during the period between 2002 and 2007 at five participating centers in Japan. The relationship between the gestational age and the L/T was analyzed. The most powerful measurement point and accurate cutoff value of the L/T was determined by an analysis of a receiver operating characteristic curve, which was verified by comparing the patients' severity.There was a negative correlation between the gestational age and the L/T in the non-survivors, and no correlation in the survivors. There were significant differences in the parameters which represented the patients' severity including the respiratory and circulatory status, the surgical findings, and the final outcomes between the groups divided at 0.080 in the minimum value of the L/T during gestation.The L/T was not strongly influenced by the gestational age, and it was found to be a reliable prenatal predictive parameter in fetuses with isolated CDH.

A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as fluorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.

IntroductionSeveral retrospective or single-centre studies demonstrated the efficacy of transplacental treatment of fetal tachyarrhythmias. Our retrospective nationwide survey showed that the fetal therapy will be successful at an overall rate of 90%. For fetuses with hydrops, the treatment success rate will be 80%. However, standard protocol has not been established. The objective of this study is to evaluate the efficacy and safety of the protocol-defined transplacental treatment of fetal tachyarrhythmias. Participant recruitment began in October 2010.Methods and analysisThe current study is a multicentre, single-arm interventional study. A total of 50 fetuses will be enrolled from 15 Japanese institutions. The protocol-defined transplacental treatment is performed for singletons with sustained fetal tachyarrhythmia ≥180 bpm, with a diagnosis of supraventricular tachycardia or atrial flutter. Digoxin, sotalol, flecainide or a combination is used for transplacental treatment. The primary endpoint is disappearance of fetal tachyarrhythmias. The secondary endpoints are fetal death related to tachyarrhythmia, proportion of preterm birth, rate of caesarean section attributable to fetal arrhythmia, improvement in fetal hydrops, neonatal arrhythmia, neonatal central nervous system disorders and neonatal survival. Maternal, fetal and neonatal adverse events are evaluated at 1 month after birth. Growth and development are also evaluated at 18 and 36 months of corrected age.Ethics and disseminationThe Institutional Review Board of the National Cerebral and Cardiovascular Center of Japan has approved this study. Our findings will be widely disseminated through conference presentations and peer-reviewed publications.Trial registration numberUMIN Clinical Trials Registry UMIN000004270.

Background This study was undertaken to establish the appropriate correction of left atrial volume (LAV) to body surface area (BSA) to provide reference values and to assess the hypotheses that LAV is useful for assessing patent ductus arteriosus (PDA) severity in extremely low birth weight infants (ELBWI) and could overcome the limitations of the LA-to-aortic dimension ratio (LA/Ao). Methods and results Echocardiograms with 318 data points from 53 consecutive ELBWIs were assessed. PDA surgery was performed within the first 2 weeks in 6 patients. LAV was measured using the biplane (LAV) and single-plane (LAV(4CV)) area-length methods. The allometric model was used to correlate LAV to BSA. LAV(4CV) had a good correlation with LAV (R=0.93). Although LAV/BSA(1) had a residual relationship with BSA, LAV/BSA(1.54) (23.5±9.3 ml/m(3.08)) and LAV(4CV)/BSA(1.52) (21.4±9.4 ml/m(3.04)) did not. Receiver-operating characteristic analysis to detect hemodynamic status just before PDA surgery showed the superiority of LAV/BSA(1.54) (area under the curve (AUC) 0.97) and LAV(4CV)/BSA(1.52) (AUC 0.98) over LA/Ao (AUC 0.92). Moreover, LAV/BSA(1.54) and LAV(4CV)/BSA(1.52) were better correlated with left pulmonary arterial end-diastolic velocity than was LA/Ao. Conclusions This study provided appropriate BSA correction of LAV and its reference values in ELBWIs. LAV indices may be superior to LA/Ao for PDA severity assessment. Measurement of single-plane LAV is easy, with similar usefulness to biplane LAV.

Background: As the technique of fetal ultrasound has developed, we have more opportunities to perform fetal echocardiography. Our knowledge about fetal diagnosis has been rapidly expanded. It is essential for the pediatricians to understand the ethical issues surrounding the fetal diagnosis. Methods: We discussed these ethical issues at the 5th Annual Meeting of the Japanese Society of Fetal Cardiology in Fukuoka, Japan, 1999. I have reviewed the ethical issues brought up in the discussions. Results: We have discussed many aspects of ethical issues. We should explain to parents before the fetal scan how and why the fetus is examined. It is very important to get written informed consent from the parents. It seems very difficult to inform of fetal diagnosis and support parents appropriately. We have to establish a system where obstetricians, neonatologists, cardiologists, nurses, midwives and medical social workers are cooperating in the perinatal center. Conclusion: We have many problems in the field of ethical issues. We have to keep discussing them. It is necessary to establish a team for fetal medicine in every perinatal hospital.

Although posthemorrhagic hydrocephalus has been observed in premature infants, few cases of its intrauterine occurrence in fetuses have been reported. We report a case of posthemorrhagic hydrocephalus in a fetus with severe tachycardia. This case indicates that its possible occurrence should be considered in a case of a preterm fetus with distress.

Aim To explore a less invasive way of assessing preload in neonates than fitting catheters to measure central venous pressure (CVP). This study evaluated the relationship between inferior vena cava (IVC) measurements and gestational age (GA) or body weight (BW) in term and premature infants and the correlation between those measurements and CVP in sick infants under mechanical ventilation. Methods We studied 57 clinically stable infants, together with14 sick infants fitted with central venous catheters to measure CVP. Subcostal transverse views were recorded at the level of the left branch of portal vein, and the minimum (DS) and maximum (DL) diameters of the IVC were measured. We evaluated the values of DS and DL and the S/L ratio (DS divided by DL) in the clinically stable infants and the correlation between S/L and CVP in the sick infants with central catheters. Results DS and DL correlated positively and strongly with both GA and BW, whereas S/L was almost independent of both GA and BW and correlated strongly with CVP. Conclusion At the subcostal transverse views, S/L is much less affected by either GA or BW than DS or DL and correlates strongly with CVP in mechanically ventilated infants.

BACKGROUND: Reports have described that, in adults, steroids suppress thyroid-stimulating hormone (TSH) and triiodothyronine (T3) and might suppress thyroxine (T4). No data have been reported for thyroid hormone changes before or after administration of glucocorticoid in preterm infants. AIMS: The aim of this study was to investigate short-term effects of thyroid hormones on preterm infants. INDEX CASES: We measured TSH, free T3 (FT3), and free T4 (FT4) before and after one or two doses of glucocorticoids administered to five infants at 29-37 weeks of corrected gestational age. RESULTS: Comparison of thyroid hormone levels before and 1 day after glucocorticoid administration showed that TSH significantly decreased by 76% (64%-87%), FT3 by 33% (10%-50%), and FT4 by 10% (3%-17%). The decline in TSH and FT3 was followed by an increase around the pretreatment level at 3-15 days after glucocorticoid administration. In two of the five infants, FT4 continued to decrease from 1 day after glucocorticoid administration. CONCLUSIONS: In preterm infants, assessing thyroid hormones after glucocorticoid therapy demands caution because very short-term administration causes marked changes.

There are few large studies of fetal congenital bradyarrhythmia. The aim of the present study was to investigate the effects and risks of transplacental treatment for this condition.Using questionnaires, 128 cases of fetal bradyarrhythmia were identified at 52 Japanese institutions from 2002 to 2008. Of the 128 fetuses, 90 had structurally normal hearts. Among these 90 fetuses, 61 had complete atrioventricular block (CAVB), 16 had second-degree AVB, 8 had sinus bradycardia, and 5 had other conditions. The 61 CAVB fetuses were divided into those who did (n = 38) and those who did not (n = 23) receive transplacental medication. Monotherapy with β-sympathomimetics, steroid monotherapy, and combination therapy with these agents was given in 11, 5 and 22 cases, respectively. Beta-sympathomimetics improved bradycardia (P0.001), but no medication could significantly improve the survival rate. Fetal hydrops was associated with a 14-fold increased risk of perinatal death (P = 0.001), and myocardial dysfunction was a significant risk factor for poor prognosis (P = 0.034). Many adverse effects were observed with steroid treatment, with fetal growth restriction increasing significantly after10 weeks on steroids (P = 0.043).Treatment with β-sympathomimetics improved bradycardia, but survival rate did not differ significantly in fetuses with and without transplacental medication. It is recommended that steroid use should be limited to10 weeks to avoid maternal and fetal adverse effects, especially fetal growth restriction and oligohydramnios.

We reviewed our experience to examine the outcomes of noncardiac surgery in neonates with congenital cardiac defects and assess future changes in the management of noncardiac surgery in neonates for whom new cardiac surgical management strategies will develop based on current progress in prenatal diagnosis. Forty-five neonates with congenital cardiac defects underwent noncardiac surgery in our institution. Subsequent cardiac surgery was performed in 26 of those neonates. No patient underwent cardiac surgery before noncardiac surgery. However, rescue neonatal cardiac surgery, which is performed within 24 h after birth, has become more common because of the progress in prenatal diagnosis. Under these circumstances in neonatal cardiac surgery, the timing or approach of cardiac and noncardiac surgery should be reconsidered in the next few years. We emphasize the importance of cooperation among relevant specialists in the management of neonates with multiple disorders to increase the benefits offered by developments in prenatal diagnosis.

The aim of this study was to establish a prenatal prognostic classification system for risk-stratified management in fetuses with isolated congenital diaphragmatic hernia (CDH).A multi-institutional retrospective cohort study of isolated CDH, diagnosed prenatally in fetuses delivered during the 2002 to 2007 period at 5 participating institutions in Japan, was conducted. The risk stratification system was formulated based on the odds ratios of prenatal parameters for mortality at 90 days. The clinical severity in CDH infants were compared among the stratified risk groups.Patients were classified into the 3 risk groups: group A (n = 48) consisted of infants showing liver-down with contralateral lung-to-thorax transverse area ratio (L/T) ratio ≥0.08; group B of infants showing liver-down with L/T ratio0.08 or liver-up with L/T ratio ≥0.08 (n = 35), and group C of infants showing liver-up with L/T ratio0.08 (n = 20). The mortality at 90 days in groups A, B, and C were 0.0%, 20.0%, and 65.0%, respectively. The intact discharge rates were 95.8%, 60.0%, and 5.0%, respectively. This system also accurately reflected the clinical severity in CDH infants.Our prenatal risk stratification system, which demonstrated a significant difference in postnatal status and final outcome, would allow for accurate estimation of the severity of disease in fetuses with isolated CDH, although it needs prospective validation in a different population.

A rare case of a 6-year-old male with idiopathic familial cardiomyopathy manifesting severely restrictive physiology is reported. The patient showed congestive heart failure with dilatation of both atria with a normal ventricular cavity. A square-root configuration was revealed in the ventricular pressure tracings. His elder brother had died of hypertrophic cardiomyopathy at the age of 3 years. Endomyocardial biopsy disclosed marked disorganization of muscle bundles with hypertrophy of the myocytes and interstitial fibrosis. The patient died suddenly during hospitalization. Autopsy revealed diffuse hypertrophy of both the ventricular walls and the ventricular septum with extensive myocardial disorganization and interstitial fibrosis. These advanced myopathic changes in the myocardium may have been related to the restrictive physiology in this case.

A newborn male had an interstitial deletion of 16q21-q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region.

OBJECTIVE. The aim of this study was to assess whether periventricular leukomalacia findings are sufficiently sensitive for predicting the severity of motor prognosis by conventional MRI in the near term.METHODS. Preterm infants with T1 hyperintensity or cysts in the periventricular regions on term MRI were selected, and their gross motor functions were evaluated at the age of 3 to 5 years. Sixty-two infants had findings of T1 hyperintensity or cysts, and except for infants with these findings, none were diagnosed later as periventricular leukomalacia.RESULTS. All 37 patients with cerebral palsy had periventricular lesions with T1 hyperintensity or cysts in the corona radiata above the posterior limb of the internal capsule on coronal sections. Small T1 hyperintensity lesions were seen on coronal slices and were often difficult to detect on axial slices. All of the 17 infants with T1 hyperintensity findings sparing the corona radiata above the posterior limb of the internal capsule showed normal motor development, irrespective of findings of ventriculomegaly. There was a tendency for the presence of widespread lesions in corona radiata above the posterior limb of the internal capsule to be correlated with the severity of motor handicap.CONCLUSIONS. Lesions in the corona radiata above the posterior limb of the internal capsule on a coronal view by term MRI were useful for predicting motor prognosis in preterm infants with periventricular leukomalacia.

We present a case of neonatal acute gastric outlet obstruction related to prostaglandin-induced gastric foveolar hyperplasia, which developed following infusion of prostaglandin E1 (PGE1) for treatment of hypoplastic left heart syndrome. Abdominal distension occurred after administration of PGE1 in a cumulative dose of 2914 microg/kg. Ultrasonography performed after a cumulative dose of 5074 microg/kg had been administered disclosed a lobulated thickening of the gastric mucosa with a brush-like appearance composed of alternately echogenic and hypoechoic, vertically oriented lines. These ultrasonographic findings corresponded to the histological abnormalities of gastric foveolar hyperplasia with impacted interfoveolar mucin products and dilated mucosal glands. The development of gastric outlet obstruction in our patient, a relatively rare manifestation of prostaglandin-induced foveolar hyperplasia, might have been related to the unusually high cumulative dose of PGE1.

Two extremely premature infants died as a result of congenital Candida glabrata infection, and their placentas and umbilical cords were free of macroscopic Candida nodules. Because non-Candida albicans Candida infections are less likely to produce necrotic foci, we should not exclude Candida infections in the absence of macroscopic nodules on the placenta and umbilical cord.

Objectives: To elucidate the prenatal and postnatal course of fetal congenital atrioventricular block (CAVB) during the past decade in the Japanese population. Design: Retrospective multicentre study. All fetuses with CAVB in 10 Japanese institutions in the period from January 1990 to August 2001 were included. Patients: Of the 48 fetuses with CAVB, 17 had a congenital heart defect (CHD) (14 with left atrial isomerism) and 31 had a structurally normal heart (22 with positive maternal autoantibodies). Gestational age at diagnosis was 15 to 38 (median 26) weeks. Results: Of the 17 fetuses with a CHD, three were aborted, one died before birth, and eight died after birth (three in the neonatal period and five after the neonatal period). Of the 31 fetuses without a CHD, two died before birth and two died after birth. CHD (p = 0.005) and the presence of fetal hydrops (p = 0.05) were significant risk factors for death. However, fetal ventricular and atrial heart rates, gestational age at delivery, and birth weight were not related to death. Transplacental medication of sympathomimetics increased the fetal heart rate in five of eight fetuses treated. Dexamethasone did not improve the degree of heart block in any of the six fetuses treated. Postnatally, pacemakers were implanted in 30 of 40 babies. Four fetuses with maternal autoantibodies had decreased cardiac function. Conclusions: CHD and fetal hydrops are risk factors for prenatal and postnatal death. The fetal ventricular rate of 55 beats/min did not appear to be a threshold value by which to predict fetal hydrops. Patients with CAVB should be subjected to close long term follow up to check for the need for pacemaker implantation or for late onset cardiac dysfunction.

We report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.

We report on a four-month-old girl with a de novo trisomy 16q [47,XX,+del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p−)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin. Am. J. Med. Genet. 92:308–310, 2000. © 2000 Wiley-Liss, Inc.

We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

Umbilical ulceration is an extremely rare complication in the perinatal period. We encountered a case of intestinal atresia complicated by massive intrauterine hemorrhage due to the umbilical cord ulceration. This is the fifth reported case demonstrating an association between the umbilical cord ulceration and intestinal atresia.