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VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic information to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P

The lack of good evidence for improved outcomes in children and young infants with febrile urinary tract infection (UTI) after aggressive treatment for vesicoureteral reflux (VUR) has raised doubts regarding the need for routine voiding cystourethrography (VCUG), and the appropriate imaging evaluation in these children remains controversial.This prospective study aimed to determine whether abnormalities found on acute dimercaptosuccinic acid (DMSA) scan and ultrasound (US) can help indicate the necessity of voiding cystourethrography (VCUG) in young infants.For 3.5 years, all infants younger than 3 months presenting with first febrile UTI were prospectively studied. All infants were hospitalized and investigated using US (3 days after admission), DMSA scan (5 days after admission), and VCUG (7-10 days after antibiotic treatment) after diagnosis. The association among findings of US, DMSA scan, and VCUG were evaluated.From 220 infants, there were abnormal results in 136 (61.8%) US and in 111 (50.5%) DMSA scans. By US, ten infants (4.5%) with abscess or structural abnormalities other than VUR were diagnosed. High-grade (III-V) VUR was present in 39 patients (17.7%). The sensitivities for high-grade VUR of renal US alone (76.9%) or DMSA scan alone (82.1%) were not as good as that of the "OR rule" strategy, which had 92.3% sensitivity and 94.3% negative predictive value.To screen high-grade VUR in young infants with febrile UTI, US and acute DMSA scan could be performed first. VCUG is only indicated when abnormalities are apparent on either US or DMSA scan or both.

Background Early-onset sepsis (EOS) is the major cause of neonatal morbidity and mortality. Maternal group B Streptococcus (GBS) screening and intrapartum antibiotic prophylaxis (IAP) were implemented in our hospital in 2004. Our aim was to evaluate the effectiveness of the program and changes in pathogens and antibiotic susceptibility. Methods The medical charts of mothers and infants with EOS between January 2001 and November 2008 were retrospectively reviewed. EOS was defined as sepsis occurring within 72 hours of birth. Data were pooled and compared for January 2001 through September 2004 (Period 1, without GBS screening) and October 2004 through November 2008 (Period 2, with GBS screening and IAP). Results The GBS screening rate increased from 10.11% in 2004 to 65% in 2008 and the IAP rate increased from 40% in 2004 to 90% in 2008. The most common EOS pathogen in Period 1 was GBS (45.4%), which decreased to 20% in Period 2 ( p =0.081; trend p =0.009). The percentage of EOS because of Escherichia coli in Period 1 was 40.9% but increased to 70% in Period 2 ( p =0.059). E coli EOS increased in extremely low birth weight premature babies weighing 500–1000g from Period 1 to Period 2 ( p =0.031). The incidence of ampicillin-resistant E coli EOS was relatively high, but no significant change (88.9% vs. 92.9%) after implementation of GBS screening and IAP was noted. Conclusion GBS screening plus IAP is effective in decreasing the incidence of GBS EOS; however, an increase in EOS caused by E coli was noted. Monitoring of pathogens causing EOS is important for effective treatment.

Background: Neonatal subgaleal hemorrhage (SGH) is a rare but potentially lethal medical emergency. The objective of the present retrospective study was to clarify the clinical presentation, management, and factors associated with morbidity and mortality. Methods: The records of all newborns from January 1995 to December 2004 were reviewed for evidence of SGH, based on the presence of a fluctuating hemorrhagic mass that crossed suture lines and extended toward the neck. Characteristics were compared between those with a poor or a good outcome. Results: Forty-two newborns with SGH were identified, 77% having had an instrumental delivery. The incidence was 0.6/1000 deliveries and 4.6/1000 vacuum-assisted deliveries. Thirteen patients (31%) had a poor outcome (five died, four had epilepsy, three with severe auditory dysfunction, two with cerebral palsy, and one with renal vein thrombosis). The group with the poor outcome had significantly more patients who had been transferred from other hospitals (P

Background: Prader–Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan. Methods: A retrospective analysis was carried out of 70 PWS patients (39 male, 31 females; age range, 1 month–22 years) seen in four major medical centers in Taiwan from January 1980 through June 2005. All cases were confirmed by methylation-specific polymerase chain reaction. The molecular characteristics, birth history, clinical presentation and laboratory studies were analyzed. Results: Complete genetic analysis was performed in 52 of the 70 patients with PWS. The abnormalities found included deletions in 45 (87%), maternal uniparental disomy (UPD) in five (10%), and a probable imprinting center deletion or an imprinting defect in two (4%). The average weight of the patients at birth was 2588 ± 540 g. Bone age delay of >2 years and growth hormone (GH) deficiency were noted in 11/40 (28%) and 12/20 (60%), respectively. In the 18 in whom both bone age and GH were assessed, abnormalities of both were found in two (11%). In 2000, Taiwan instituted the Rare Diseases and Orphan Drugs Act and mandated a three-phase screening protocol for PWS. Of the 41 patients diagnosed with PWS before 2000, only four (10%) were diagnosed before the age of 3 months; in the 29 patients diagnosed after 2000, in 15 (52%) the syndrome was confirmed before 3 months of age (P < 0.001). Conclusions: The present finding is in contrast to that of most previous reports that indicated a higher incidence of UPD in PWS. It is unclear whether this discrepancy in the incidence of UPD arises from under-diagnosis or because of ethnic differences, a question worthy of further study. The three-phase screening protocol has generated notable improvement in the early diagnosis of PWS in Taiwan.

The aim of this study was to investigate the neurodevelopmental outcome in very low birth weight infants with postnatal subependymal cysts. During a 3-year period, postnatal subependymal cysts were diagnosed by serial cranial ultrasound in 21 very low birth weight infants born prior to 33 weeks' gestation. These infants and 116 healthy very low birth weight controls were evaluated with the Bayley Scales of Infant Development at 2 years of age. Preterm infants with postnatal subependymal cysts had a significantly lower Psychomotor Development Index ( P = .034) and were more likely than the normal group to have motor developmental delay (Psychomotor Development Index

We describe the prenatal sonographic findings in a case of Klippel-Trénaunay-Weber syndrome including fetal ascites and subcutaneous cystic lesions associated with a relatively low level of maternal serum alpha-fetoprotein and a relatively high level of maternal serum beta-human chorionic gonadotrophin. Klippel-Trénaunay-Weber syndrome may present prenatally with fetal ascites and an abnormal maternal serum screening result in addition to fetal limb hypertrophy and subcutaneous cystic lesions.

Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty-nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17-year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurse's records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 days. We found a longer survival with female patients than with male patients (P < 0.05). Implementation of NHI program in the more recent decade of this study period was associated with longer survival of trisomy 18 (P < 0.05). The three most common structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed ears (90%). Low birth weight was present in 90%. By cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, ten cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long-term survival should be included in any discussion to enable families to make the most appropriate decision.

Background: The objective of the present retrospective study was to clarify the clinical course, major pathogens, and other infections associated with infected cephalohematoma. Methods: From January 1978 to December 2003, records of all newborns were reviewed for evidence of an infected cephalohematoma, based either on local signs of infection or a diagnostic tap that yielded pus. Patients were divided into two groups: those seen in the early period (1978–1990) and in the late period (1991–2003). Results: Twenty-eight newborns with infected cephalohematoma were identified, 14 each in the early and late periods. The mean age at onset was 17.8 ± 13.9 days. The most common local findings were erythema (79%), increasing size of the hematoma (68%), and a fluctuant mass (46%), while fever (64%), poor appetite (39%) and irritability (18%) were the common systemic signs. Common laboratory findings included leukocytosis (82%) and an elevated C-reactive protein (61%). Escherichia coli was the most common pathogen (16 patients, 57%) and was isolated significantly more frequently in the late period (early period: 36%, late period: 79%, P

The aims of this study were to assess the hemodynamics of the cerebral arteries and intraventricular hemorrhage in very-low-birthweight (VLBW) infants with and without patent ductus arteriosus (PDA) by cranial Doppler sonography. VLBW infants with significant PDA were recruited into the study (sPDA) group. Arterial blood gas analysis and complete blood counts were done near the time of the cranial sonography examination. Mechanical ventilator settings and daily fluid intake were recorded. The cranial Doppler sonographic examinations were repeated after PDA closure by indomethacin therapy and/or surgical ligation. A total of 40 preterm infants fulfilled the criteria of the study group. Another 37 preterm infants were recruited into a control group. Mean birth weight and gestational age did not differ significantly between the two groups. Differences in heart rate, blood pH, pCO2, pO2, use of surfactant therapy, mean airway pressure, ventilation index and FiO2 were statistically significant. In the sPDA group before closure of the PDA, the left atrial diameter/aorta diameter ratio demonstrated a positive relationship with resistance index (RI) and an inverse relationship with end diastolic velocities (Vd). After closure of the PDA, these changes neared those of the control group. The overall incidence of intraventricular hemorrhage (IVH) was higher in the sPDA than in the control group. There was no statistical difference in the grading and severity of IVH between the two groups. However, all preterm infants with severe IVH were found in the sPDA group, and their RIs were all higher than 0.80. Cranial Doppler sonography can be a useful tool to evaluate cerebral hemodynamic changes in VLBW infants with sPDA. Increased RI and decreased Vd of the cerebral artery may indicate a probable sPDA, and normalization of the RI and Vd may suggest closure of the sPDA.

Atrial flutter is a rare arrhythmia in the neonate and early infancy. We retrospectively reviewed the clinical presentations, treatment and outcome of seven patients who presented clinically with atrial flutter. The age of onset ranged from 1 day to 3 months. Atrial flutter was diagnosed in the first 3 days of life in 4. Three cases presented as atrial flutter with 2:1 atrioventricular conduction and the remaining 4 with variable AV block. Heart failure was present in 3 patients and 6 patients showed normal intracardiac structure on echocardiography. Electrical cardioversion was attempted as the first treatment in 4 cases, followed by digoxin in three of the four. Digoxin was given as an initial therapy in 2 patients. One patient recovered spontaneously without treatment. In the 6 patients who received therapy, 5 converted to normal sinus rhythm within 2 days. The remaining patient had ventricular ectopic beats for about 4 months. Only 2 cases were maintained on oral digoxin for at least 4 months after discharge. No patient had a recurrence of atrial flutter during the follow-up period which ranged from 6 months to 7 years. We conclude that there is a good long-term prognosis for atrial flutter in the neonate. Digoxin and DC cardioversion may be effective as initial therapy. Long-term digoxin prophylaxis after conversion to sinus rhythm may be not necessary.

Pancreatitis in children is not common and can be associated with severe morbidity and mortality. We encountered 43 children, ranging in age from 2 to 18 years, with pancreatitis over the past 10 years. The diagnosis of pancreatitis was made in those patients who showed: (1) significant intra-operative pathology or; (2) clinical findings of pancreatic inflammation and laboratory confirmation. More than one third (16 cases) of the cases were due to trauma, other causes included systemic disease (10), structural disease (8), and toxins or drugs (4). Five cases were classified as idiopathic. Most of the patients presented with abdominal pain (95%) and vomiting (56%). Jaundice was found in 7 patients and an abdominal mass in 2. Morbidity included pseudocyst (10), relapse (4), hyperglycaemia (4) and miscellaneous problems. Eight (50%) of the patients with trauma and 6 (86%) of the patients with structural diseases required surgery. Other patients were managed conservatively with bowel rest, gastric decompression, intravenous fluid and total parenteral nutrition. One case had a fatal outcome. All the survivors did well in long term follow up. Relevant literature has been reviewed and the sensitivity of various diagnostic modalities compared and discussed. A lesser known association between pancreatitis and structural anomalies such as choledochal cyst is discussed. To our knowledge, the present review is the first on pancreatitis in Chinese children. Pancreatitis can occur from a wide variety of causes and may result in severe complications. Early diagnosis, close monitoring and aggressive intervention are mandatory to reduce morbidity and mortality.

We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH). Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months old. Chest radiology plain film revealed typical findings of right-sided CDH. The diagnosis was confirmed after surgical exploration.

In order to delineate the efficacy of plasmin-treated intravenous gamma-globulin (IVGG) in the treatment of Kawasaki syndrome, we compared the frequency of coronary artery abnormalities in children treated or not with IVGG for Kawasaki syndrome. Among 291 cases of Kawasaki syndrome diagnosed during the period of 1987 to 1991 without coronary abnormalities within 10 days of the onset of illness, 128 were treated with IVGG and aspirin and were compared with 163 treated with aspirin alone. IVGG was given in a dosage of 400 mg/kg/day for 4 consecutive days. The detection of coronary abnormalities was monitored by two dimensional echocardiography. Two weeks after enrollment coronary artery abnormalities were present in 37 (22.7%) of 163 children in the aspirin group and in 9 (9%) of 128 in the gamma-globulin group (P < 0.05). Seven weeks after enrollment, abnormalities were present in 20 (12.3%) of 163 children in the aspirin group and in 6 (4.6%) of 128 in the IVGG group (P < 0.05). We conclude that plasmin-treated IVGG is effective in reducing the prevalence of coronary artery abnormalities in Kawasaki syndrome and suggest a predominant role of the Fc gamma fragment of IgG in the therapeutic effect.

Background Renal calcification in preterm infants has been described frequently. The etiologic factors have not yet been fully clarified. The objective of this study was to evaluate the incidence of and risk factors for renal calcification in our population. Methods We retrospectively reviewed the charts of very low birth weight preterm infants during a 1-year period. Renal ultrasound scans were performed at term or before discharge and at a corrected age of 1 year. Results Six infants (6%) had renal calcification at term or before discharge compared with 96 who did not. Factors significantly associated with renal calcification included gestational age (26 weeks vs. 29 weeks, p =0.006), birth weight (851g vs. 1141g, p =0.004), duration of mechanical ventilation (69 days vs. 29 days, p =0.002), length of intensive care (72 days vs. 41 days, p =0.013), furosemide therapy (33% vs. 3%, p =0.027), and dexamethasone therapy (50% vs. 2% p =0.001). Birth weight and dexamethasone therapy had significant independent association after stepwise logistic regression analysis. Sex, oliguria, acidosis, duration of oxygen therapy, length of hospital stay, nutrition status, and nephrotoxic drugs did not differ between the two groups. Three of the six infants had spontaneous remission of renal calcification, whereas two patients without the finding in neonatal stage had renal calcification at a corrected age of 1 year. Conclusion The incidence of renal calcification in very low birth weight infants in this study was relatively low, and the calcification was transient in one-half of the infants. Extremely premature, sick infants requiring long-term ventilation, and those receiving furosemide or dexamethasone were more likely to have renal calcification. Clinicians should be aware that renal calcification may develop beyond the neonatal stage.

Background Congenital Bochdalek diaphragmatic hernia (CDH) is easily recognized if it is present shortly after birth. However, cases of delayed CDH presentation are more subtle and therefore less easily diagnosed. Methods We retrospectively analyzed 85 patients who were under 18 and diagnosed with CDH between June 1987 and May 2007. Those diagnosed before 1 month of age were categorized as having early-presenting CDH and those diagnosed after 1 month were categorized as having late-presenting CDH. Results Of the 85 cases, 68 (80%) were early-presenting and 17 (20%) were late-presenting CDH. Respiratory symptoms were more common in early-presenting CDH, while gastrointestinal complaints were more dominant in the late-presenting group, particularly in patients with left diaphragmatic defects. Late-presenting CDH, which was more likely to be associated with chronic gastrointestinal symptoms, was associated with a lower mortality than acute early-presenting CDH with respiratory symptoms, despite the more prompt diagnosis of the latter. The small bowel was the organ most commonly herniated into the thorax. Congenital heart disease was the most commonly associated malformation, but the presence of associated anomalies did not increase mortality. Conclusion Early-presenting CDH shows acute symptoms, is readily diagnosed, and requires prompt intervention to prevent death. In contrast, late-presenting CDH shows more subtle symptoms and is more difficult to diagnose. Although the late-presenting CHD has better prognosis, it still requires surgery intervention to alleviate the symptoms. Clinicians must maintain a high index of suspicion for CDH, regardless of its presentation.

Breast milk is the main source of postnatal human cytomegalovirus (HCMV) infection. The aim of this study was to assess the relationship between HCMV load in breast milk and viral transmission to very low birth weight (VLBW) infants.Breast-fed VLBW infants who were born to HCMV-seropositive mothers and who were managed in a neonatal intensive care unit were enrolled in the study. Blood from mothers and infants was tested for HCMV antibodies after birth. Breast milk was collected for viral culture and HCMV load measurement. Urine from the babies was obtained for HCMV-DNA detection. Symptoms of HCMV infection were recorded and evaluated by neonatologists.Of the 23 evaluated mothers during a 1-year period, 19 were HCMV seropositive; 17 of the women had detectable HCMV-DNA in their breast milk whey. Of the 23 infants born to the 19 seropositive mothers, 8 infants of 8 mothers had HCMV-DNA detected in the urine, indicating that they were infected, even though the breast milk was always frozen prior to feeding. Three infected infants had symptoms. At 4 weeks after delivery, the median viral load in breast milk from mothers of the 8 infected infants was significantly higher than that from mothers of the 15 noninfected infants (P = 0.04). HCMV was detectable in breast milk for a significantly longer period in mothers of infected infants (7.5 vs. 2.6 weeks P = 0.03).High HCMV load and prolonged virus excretion in breast milk are maternal risk factors for viral transmission to VLBW infants.

Background: Bacterial tracheitis may cause life-threatening airway obstruction. Methods: Records of patients admitted to the pediatric wards of Mackay Memorial Hospital between 1994 and 2005 with a diagnosis of bacterial tracheitis made on bronchoscopic visualization of thick membranous tracheal secretions were retrospectively reviewed. Results: A total of 40 patients (aged 1 month–8 years, 29 [73%] under 3 years old) were included. Cough, fever, dyspnea, and hoarseness were the commonest symptoms. Fourteen patients (21%) required intubation. The most frequently isolated bacteriae were α-hemolytic streptococcus (in 11, 38%), pseudomonas (5, 17%), and Staphylococcus aureus (4, 14%). Intubation was more frequent in patients seen between 1994 and 1999 compared with those seen later (8/12 early vs 9/28 late). In the early period α-hemolytic streptococcus (55%) and pseudomonas (36%) were isolated. In the later period the most frequently isolated bacteria was α-hemolytic streptococcus (28%), followed by S. aureus (22%). No patients died, but those with pseudomonas infection had more severe complications, including tracheal stenosis. The average hospital stay in the early period was 26.2 ± 20.5 days versus 9.1 ± 4.8 days in the late period. The corresponding lengths of stay in the intensive care unit were 10.5 ± 11.5 days and 2.0 ± 2.2 days. Conclusions: Bacterial tracheitis requiring hospitalization of children appeared to be milder in the second half of the study period. Pseudomonas tracheitis tends to have a severe course.

Background and purposeThe incidence of concomitant rotavirus and Salmonella infection has been reported to be 1.3% to 7.4%. We designed this study to compare the clinical manifestations in children infected with rotavirus, Salmonella, or both.MethodsThe medical records of admitted children with acute rotavirus or Salmonella gastroenteritis in 2001 were reviewed. They were divided into group R (rotavirus), group S (Salmonella) and group C (concomitant infection with both). The differences of clinical manifestations and laboratory data among the three groups were analyzed via chi-squared, analysis of variance (ANOVA), Bonferroni and Kruskal-Wallis tests, and odds ratios with 95% confidence intervals (95% CI).ResultsAmong the 895 cases reviewed, 550 were group R, 312 group S, and 33 (3.7%) group C. Group C had more vomiting compared with group S (p = 0.0017). Comparing with group R, group C had more prolonged and high fever (≥ 39°C) (p< 0.05), more percentage of green coloration, with mucus and blood contained in the stool (p < 0.001). The C-reactive protein (CRP) value was significantly higher in group C (9.70 ± 11.05 mg/dL) than in group R (1.33 ± 3.62 mg/dL) or S (5.22 ± 6.11 mg/dL) (p < 0.05). Hypokalemia was found most frequently in group C (C: 30.0%, S: 8.8%, R: 7.3%) (p = 0.0026).ConclusionConcomitant rotavirus and Salmonella infections accounted for 3.7% of cases in this study. Patients in group C (30.0%) had a significantly higher incidence of hypokalemia than group R (7.3%) or S (8.8%). Group C consisted of 33 cases of the 895 reviewed cases (3.7%). In a child with rotavirus gastroenteritis, concomitant infection with Salmonella should be considered if the child has sustained a high fever (≥ 39°C) for over 4 days and a green stool with mucus and blood.

This study examined the developmental and clinical outcomes in very-low-birthweight (VLBW; < or =1500g) infants with and without bronchopulmonary dysplasia (BPD) throughout infancy, and assessed if BPD predicted poor developmental outcome beyond the effects of other risk factors. One hundred and three VLBW infants (53 males, 50 females; mean gestational age 28wks [SD 2] birthweight 1041g [SD 261]) were graded for severity of BPD according to the American National Institutes of Health (NIH) consensus definition. Neuro-development was assessed using the Neonatal Neurobehavioral Examination-Chinese version, at 36 and 39 weeks' postmenstrual age, and the 2nd edition of the Bayley Scales of Infant Development at 6 and 12 months' corrected age. Clinical outcome was measured by means of rehospitalization for pulmonary causes and treatment with pulmonary medications. Compared with infants without BPD, infants with BPD had higher rates of clinical morbidity, and those with severe BPD further exhibited higher incidences of developmental delay throughout infancy. BPD predicts poor 1-year developmental and clinical outcomes in VLBW infants for which effects are well correlated to the NIH consensus definition.

This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI).A total of 28 cases of trisomy 13 seen at Mackay Memorial Hospital, Taipei, Taiwan, from 1985 to 2004 were retrospectively reviewed. Survival and management before (12 cases) and after (16 cases) the implementation of National Health Insurance were compared, and structural defects, imaging findings, and cytogenetic results were analyzed. The cases that were diagnosed prenatally, and finally terminated, were excluded from this study. The diagnosis of trisomy 13 was based on the postnatal chromosome analysis.All patients except one with trisomy 13 translocation died in their first year because of severe malformations of the cardiovascular or central nervous system. The median survival was 9 days. After implementation of National Health Insurance, survival with trisomy 13 was significantly longer than before (P0.05). The three most common structural defects were abnormal auricular helices or low-set ears (89%), cryptorchidism and abnormal scrotum of male (73%) and cleft lip and/or palate (71%). Using echocardiography, the most commonly detected heart defects were patent ductus arteriosus (68%), ventricular septal defect (50%) and atrial septal defect (50%), and eight cases (36%) had complex congenital heart defects. The most common brain lesion was lenticulostriate vasculopathy (22%), followed by holoprosencephaly (17%), brain edema (13%) and subependymal cyst (13%).Early diagnosis and the survival patterns from the data collected should be used to inform parents and health-care professionals to assist in decision making. Although most patients with trisomy 13 die within the first weeks after birth, it is important to recognize that a few may survive the first year. When counseling families, the long-term survival prospects of trisomy 13 patients should be included.

It has been reported that cystic fibrosis is very rare in Asians, and its clinical expression and genetic mutations are different from those found in Caucasians. We report the case of a boy who had chronic diarrhea with failure to thrive and frequent respiratory tract infections beginning at the age of 2 months. He developed bronchiectasis with chronic severe hypoxemia and pancreatic insufficiency by the age of 3 years and 5 months, which raised the consideration of cystic fibrosis. DNA analysis revealed a homozygous R553X mutation, and both his parents were subsequently proven to be R553X carriers. This case is the first report in a Taiwanese with cystic fibrosis attributable to a mutation commonly seen in Caucasians. However, the age of onset was much younger and the clinical course was more severe than those associated with Western patients. We reviewed the eight reported Taiwanese patients with cystic fibrosis, including the present case. We believe that the incidence of cystic fibrosis in Taiwan may be underestimated. Both genetic and environmental factors may play a role in the phenotypic disparity between Asians and Caucasians.

Objectives: To assess the risk of transmission of cytomegalovirus (CMV) by breast milk from CMV-seropositive mothers to their breast-fed preterm infants and to evaluate their outcome. Patients and Methods: The study population comprised breast-fed preterm infants with a birth weight of < 1500 g and gestational age of