Epidemiology of Macrosomia in Korea: Growth and Development

Background@#Macrosomia, as an infant with birth weight over 4 kg, can have several perinatal, and neonatal complications. This study aimed to estimate the incidence of macrosomia in Korea and to identify the growth and developmental outcomes and other neonatal complications. @*Methods@#In total, 397,203 infants who were born in 2013 with birth weight ≥ 2.5 kg and who underwent infant health check-up between their 1 st and 7 th visit were included from the National Health Insurance Service database. The information was obtained by the International Classification of Diseases-10 codes or self-reported questionnaires in the National Health Screening Program. @*Results@#The distribution of infants by birth weight was as follows: 384,181 (97%) infants in the 2.5–3.99 kg (reference) group, 12,016 (3%) infants in the 4.0–4.49 kg group, 772 (0.2%) infants in the 4.5–4.99 kg group, and 78 (0.02%) infants in the ≥ 5 kg group. Macrosomia showed significantly higher incidence of sepsis, male sex, and mothers with GDM and birth injury. There was a significant difference in weight, height, and head circumference according to age, birth weight group, and combination of age and birth weight, respectively (P < 0.001). The number of infants with the weight above the 90 th percentile in macrosomia at each health check-up showed higher incidence than in reference group. The mean body mass index significantly differed among the groups, as 50.6 in infants with 2.5–3.99 kg of birth weight, 63.5 with 4.0–4.49 kg, 71.0 with 4.5–4.99 kg, and 73.1 with ≥ 5 kg. There was a significant difference in the incidence of poor developmental results between infants with macrosomia and the reference group at 24, 36 and 48 month of age. @*Conclusion@#Macrosomia was significantly associated with the risk of sepsis, birth injury, obesity and developmental problem especially in a boy born from mothers with gestational diabetes mellitus. Careful monitoring and proper strategies for monitoring growth and development are needed.

Mortality and Morbidities according to Time of Birth in Extremely Low Birth Weight Infants

Background@#Although the overall quality of high-risk neonatal care has improved recently, there is still concern about a difference in the quality of care when comparing off-hour births and regular-hour births. Moreover, there are no data in Korea regarding the impact of time of birth on mortality and morbidities in preterm infants. @*Methods@#A total of 3,220 infants weighing < 1,000 g and born at 23–34 weeks in 2013–2017 were analyzed based on the Korean Neonatal Network data. Mortality and major morbidities were analyzed using logistic regression according to time of birth during off-hours (nighttime, weekend, and holiday) and regular hours. The institutes were sub-grouped into hospital group I and hospital group II based on the neonatal intensive care unit (NICU) care level defined by the mortality rates of < 50% and ≥ 50%, respectively, in infants born at 23–24 weeks' gestation. @*Results@#The number of births during regular hours and off-hours was similar. In the total population and hospital group I, off-hour births were not associated with increased neonatal mortality and morbidities. However, in hospital group II, increased early mortality was found in the off-hour births when compared to regular-hour births. @*Conclusion@#Efforts to improve the overall quality of NICU are required to lower the early mortality rate in off-hour births. Also, other sensitive indexes for the evaluation of quality of NICU care should be further studied.

Mortality and Morbidities according to Time of Birth in Extremely Low Birth Weight Infants

Background@#Although the overall quality of high-risk neonatal care has improved recently, there is still concern about a difference in the quality of care when comparing off-hour births and regular-hour births. Moreover, there are no data in Korea regarding the impact of time of birth on mortality and morbidities in preterm infants. @*Methods@#A total of 3,220 infants weighing < 1,000 g and born at 23–34 weeks in 2013–2017 were analyzed based on the Korean Neonatal Network data. Mortality and major morbidities were analyzed using logistic regression according to time of birth during off-hours (nighttime, weekend, and holiday) and regular hours. The institutes were sub-grouped into hospital group I and hospital group II based on the neonatal intensive care unit (NICU) care level defined by the mortality rates of < 50% and ≥ 50%, respectively, in infants born at 23–24 weeks' gestation. @*Results@#The number of births during regular hours and off-hours was similar. In the total population and hospital group I, off-hour births were not associated with increased neonatal mortality and morbidities. However, in hospital group II, increased early mortality was found in the off-hour births when compared to regular-hour births. @*Conclusion@#Efforts to improve the overall quality of NICU are required to lower the early mortality rate in off-hour births. Also, other sensitive indexes for the evaluation of quality of NICU care should be further studied.

Practical considerations when administering surfactants to preterm infants with respiratory distress syndrome / 소아과

No abstract available.

A Rare Case of Pediatric T Lymphoblastic Leukemia With t(11;17)(q23;q21) Involving Mixed-Lineage Leukemia Gene Rearrangement

No abstract available.

Recent Changes in the Incidence of Bronchopulmonary Dysplasia among Very-Low-Birth-Weight Infants in Korea

We investigated the incidence of bronchopulmonary dysplasia (BPD) in very-low-birth-weight (VLBW) infants in Korea using the Korean Neonatal Network (KNN) data. In total, 2,386 VLBW infants born from January 2013 to June 2014 were prospectively registered. BPD was defined as supplemental oxygen or positive pressure support at 36 weeks postmenstrual age (PMA). The overall incidence of BPD was 28.9%, and the overall mortality rate in the neonatal intensive care units (NICUs) was 11.9%. To investigate recent changes in the incidence of BPD among VLBW infants, we compared the BPD rate in the present study with the latest nationwide retrospective survey conducted between 2007 and 2008. For comparison, we selected infants (23-31 weeks of gestation) (n=1,990) to adjust for the same conditions with the previous survey in 2007-2008 (n=3,841). Among the limited data on VLBW infants (23-31 weeks of gestation), the incidence of BPD increased by 85% (from 17.8% to 33.0%) and the mortality rate in the NICU decreased by 31.4% (from 18.8% to 12.9%) compared to those in the study conducted in 2007-2008. The current trend of increase in the incidence of BPD among infants can be attributed to the increase in the survival rate of VLBW infants.

Two Cases of Congenital Diaphragmatic Hernia Manifestated with Atypical Symptoms in Newborn Infants / 대한주산의학회잡지

Most of the congenital diaphragmatic hernia (CDH) cases are diagnosed at prenatal period or immediately after birth with severe respiratory symptom. The classic triad, which is respiratory distress, apparent dextrocardia and a scaphoid abdomen, is usually seen in this period. Several case reports have described older infants and children with a wide spectrum of symptoms of CDH, whereas extremely few cases were reported in neonatal period except classic triad such as straungulation of the bowel. These atypical manifestations can lead physician to delayed diagnosis. We report two cases of CDH newborns. First case was diagnosed with pneumoperitoneum following tension pneumothorax, transient diaphragm eventration on 5 days after birth. The other case was diagnosed with failure to thrive and mediastinal mass on 30 days after birth. These cases suggest physicians to consider CDH in late newborn period with pneumoperitoneum following tension pneumothorax, transient diaphragm eventration, failure to thrive, and mediastinal mass.

Neonatal vitelline vein aneurysm with thrombosis: prompt treatment should be needed

Vitelline veins are a pair of embryonic structures. The veins develop the portal vein system. Serious problems occur if the vitelline vein does not regress and becomes an aneurysm. Thrombus formation in the vitelline vein aneurysm could lead to portal vein thrombosis and portal hypertension unless promptly and correctly treated. Though vitelline vein aneurysm is an extremely rare anomaly, it rapidly progresses to portal vein thrombosis that requires prompt diagnosis and treatment. We reported a case of neonatal vitelline vein aneurysm and thrombosis that was cured by prompt operation.

Admission of Term Infants to Neonatal Intensive Care Unit from Nursery / 대한주산의학회잡지

PURPOSE: We evaluated the clinical characteristics of term infants admitted to the neonatal intensive care unit (NICU) from nursery. METHODS: This is a study of NICU-admitted infants who were born > or =37 weeks of gestation at the Bungdang CHA Hospital between January 2012 and August 2013 (n=161). The infants were divided into 3 groups. The "nursery room (NR) group" (n=97) comprised admissions from the nursery following a late deterioration in condition. The "delivery room (DR) group" (n=64) comprised infants who required admission to the NICU immediately after delivery. In addition, healthy term infants who were selected as the "Term group" (n=95). RESULTS: The NR group had a higher incidence of respiratory distress syndrome than DR group (28.9% vs. 14.1%, P=0.029). Compared with the Term group, the NR group had increased incidence of prolonged (>18 h) premature rupture of membranes (PROM) (6.2% vs. 0.0%, P=0.029). By logistic regression analysis, comparing NR group and Term group, a 1 min Apgar score < or =7 points {odds ratio (OR) and 95% confidence intervals (CI) 3.1 (1.0-9.1)}, a requirement of O2 at birth 2.6 (1.2-5.9) and abnormalities detected on an antenatal sonogram 3.3 (1.4-7.8) were associated with an increased risk of admission to NICU. CONCLUSION: Risk factors for NICU admission from nursery in term infants included prolonged PROM, a 1 min Apgar score of < or =7 points, a requirement of O2 at birth, and abnormalities on antenatal sonograms. Term infants with these risk factors should be carefully observed in the early neonatal period.

Advanced Maternal Age and Weight at Birth in Newborn Infants: Distribution and Clinical Characteristics / 대한주산의학회잡지

PURPOSE: This study aimed to compare the neonatal outcome by quantifying the effect of maternal age on low birth weight (LBW). METHODS: We reviewed the medical records of 12,742 newborn infants born at CHA Bundang Medical Center from January 2009 to December 2013. Infants were compared after being categorized by the following 4 maternal age groups - or =40 years (N=640). Statistical analysis included use of logistic regression models with likelihood ratio tests for interaction effects. RESULTS: Incidence of perinatal complications tended to increase significantly with maternal age - gestational diabetes mellitus (GDM; P or =40 years (OR=0.841, 95% CI 0.671-1.056, P=0.136) for LBW. After adjusted by gestational age, incidence of in vitro fertilization (IVF), and perinatal complications, maternal age was not found to be an independent risk factor for LBW (OR=0.847, 95% CI 0.730-0.982, P=0.028 for 35-39 years, and OR=0.652, 95% CI 0.481-0.884, P=0.006 for > or =40 years). CONCLUSION: Although incidence of perinatal complications tends to increase with age, neonatal outcome of age group of > or =35 years measured by incidence of LBW infants was not unfavorable compared to the reference group. The result suggests that the thorough prenatal care may be more important than the maternal age itself.

Genetic risk factors associated with respiratory distress syndrome / 소아과

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in genes encoding surfactant-associated molecules have confirmed this. Specific genetic variants contributing to the regulation of pulmonary development, its structure and function, or the inflammatory response could be candidate risk factors for the development of RDS. This review summarizes the background that suggests the genetic predisposition of RDS, the identified mutations, and candidate genetic polymorphisms of pulmonary surfactant proteins associated with RDS.

Initial Optimal Body Temperature in Preterm Infants

Hypothermia in preterm infants on admission to neonatal intensive care units remains an issue. Initial hypothermia was found to be one of the important risk factors for increased mortality and morbidity in preterm infants. Smaller size and more immaturity are associated with increased vulnerability to the cold environment of delivery rooms. To prevent heat loss after birth, the treatment recommendations that were recently added are increasing delivery room temperature and immediate use of plastic covering and hats. This review summarizes up-to-date studies of the background and strategies for preventing hypothermia of preterm infants.

Association of Interleukin-1alpha-889, beta-31, beta-511 Polymorphism with Risk of Bronchopulmonary Dysplasia

PURPOSE: Although improvements in neonatal care techniques have increased the survival rate of preterm infants, bronchopulmonary dysplasia (BPD) remains an important factor in neonatal mortality and morbidity. BPD is a multifactorial disease associated with genetic and clinical risk factors related to lung development and perinatal inflammation. Interleukin-1 (IL-1) is a crucial cytokine in the early stages of inflammation. In the present study, we aimed to determine the association between the IL-1 polymorphisms, clinical risk factors, and BPD in preterm infants. METHODS: The study was performed who consented infants born at less than 34 weeks' gestation. The alleles of the 3 sites of the IL-1 gene (IL-1alpha-889, IL-1beta-31, and IL-1beta-511) were determined using Taqman(R)-based allelic discrimination assays. Clinical data were reviewed from the medical records. RESULTS: A total of 31 infants with BPD and 73 control infants were enrolled in the study. The gestational age (P=0.001) and birth weight (P=0.001) were lower in the BPD group compared to those in the control group. The incidence of respiratory distress syndrome (RDS; P=0.002), patent ductus arteriosus (P=0.01), and retinopathy of prematurity (P<0.001) was higher in the BPD group compared to that in the control group. The frequency of IL-1alpha-889TT was higher in the BPD group (6.5% vs. 0.0%, P=0.028) compared to that in the control group. The frequencies of IL-1alpha-889T, IL-1beta-31T, and IL-1beta-511T did not differ between the BPD and control groups. In logistic regression analysis, gestational age and RDS were found to be associated with BPD. CONCLUSION: IL-1alpha-889, IL-1beta-31, and IL-1beta-511 polymorphisms are not associated with the development of BPD in preterm infants.

Association between Respiratory Disorders and Candidate Genes in Korean Newborn Infants

Respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) remain major acute and chronic postnatal lung diseases in the Neonatal Intensive Care Unit. RDS and BPD are multifactorial diseases influenced by genetic factors. Specific genetic variants contributing to the regulation of pulmonary development, structure and function or inflammatory response, and host defense mechanism can be risk factors for the development of RDS and/or BPD. This review summarizes recent association studies of genetic polymorphisms with RDS and BPD. In addition, we analyze the genetic differences among various study populations to identify potential candidate genes for susceptibility to RDS and BPD in Korean preterm infants.

Sleep Disturbances in Children Younger than 36 Months of Age with Iron Deficiency Anemia

PURPOSE: Iron deficiency anemia (IDA) and sleep problems are prevalent in infancy and early childhood and are more associated with poor cognitive, motor, and social-emotional development. The aim of this study was to access the relationship between IDA and sleep disorders in a population of Korean children <36 months. METHODS: One hundred and ninety six children, who visited the outpatient clinic for a routine check-up were consecutively enrolled from March 2011 to March 2012. All parents answered a questionnaire about sleep patterns of their children using a modified expanded version of the Brief Infant Sleep Questionnaire. Among the subjects, 93 children with strong evidence of sleep disordered breathing were excluded. Hundred three children were then divided into the IDA group (n=23) and the control group (n=80). Sleep-wake parameters and prevalence of sleep disturbances were compared between the two groups. A multivariate analysis was performed to determine the independent risk factors for sleep disturbances in children. RESULTS: Children with IDA had more frequent nocturnal waking, restless sleep, and inconsolable crying during sleep than those in the control. Children with IDA also had more inappropriate sleep onset associations. No difference in sleep-wake parameters was observed between the two groups. The presence of IDA in children and maternal anemia were significant independent risk factors for sleep disturbances in children <36 months. CONCLUSION: The results suggest that prevention, early detection, and treatment of IDA would be important for good sleep in young children <36 months.

A Case of Heterozygous alpha(+)-Thalassemia Diagnosed in a Korean Family by Using Multiplex Ligation-Dependent Probe Amplification / 임상검사와정도관리

Alpha-thalassemia (alpha-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the alpha-globin chains. It is commonly caused by HBA1 and/or HBA2 gene deletion and is diagnosed by DNA sequence analysis. The proband was a 38-year-old woman who was found to have microcytic and hypochromic anemia on a routine health checkup. Results of the Hb electrophoresis (EP) and direct sequencing of the HBA1 and HBA2 genes were found to be normal. As multiplex ligation-dependent probe amplification (MLPA) for the HBA1 and HBA2 genes revealed heterozygous deletion, she was diagnosed with heterozygous alpha+-thalassemia. Although routine laboratory tests revealed similar findings in the proband's father, brother and niece, MLPA revealed heterozygous deletions of the HBA1 or HBA2 gene in her brother and niece. In summary, we report a case of heterozygous alpha+-thalassemia in a Korean family that was detected by MLPA. We recommend that patients with suspected hemoglobinopathies should be followed-up further with MLPA, especially when Hb EP shows a normal pattern.

Type Distribution of Unexpected Red Cell Antibodies in Patients with Malignancy / 대한수혈학회지

BACKGROUND: Performance of antibody screening and identification tests before blood transfusion is important because the unexpected presence of red cell antibodies may cause hemolytic transfusion reactions. Many patients with malignancy undergo transfusion in order to overcome pancytopenia due to disease itself or chemotherapy. We investigated the type distribution of unexpected red cell antibodies in cancer patients and compared our results with those of other institutions. METHODS: From January 2008 to June 2011, 30,989 serum samples were screened using a LISS/Coombs card and ID-DiaCell I, II (DiaMed AG, Morat, Switzerland). Data-Cyte Plus Reagent Red Blood Cells (Medion Diagnostics, Dudingen, Switzerland) were used in performance of antibody identification tests. RESULTS: Out of 30,989 serum samples, 180 cases (0.58%) showed screening-positive results, and unexpected antibodies were identified in 72 cases. The type of unexpected antibody observed most often in cancer patients was a member of the Rh antibody group, anti-E in 17 cases (29.8%), followed by anti-Lea in five cases (8.8%) and anti-e in three cases (5.3%). While Rh group antibodies were observed in the colon cancer group, non-Rh group antibodies were observed in the rectal cancer group. And, in the genitourinary cancer group, Lewis group antibodies were more frequently detected than others. CONCLUSION: Findings from our study demonstrated a type distribution of unexpected red cell antibodies that was similar to those reported in previous studies. Compared with non-cancerous patients, no difference in type distribution of unexpected red cell antibodies was observed in cancer patients. Some antibodies were frequently observed in certain cancer groups. Further comprehensive research on unexpected antibodies based on location or histologic type of cancer is needed.

Perinatal Outcomes of In Vitro Fertilized Twins in Women of Advanced Age

PURPOSE: The purpose of this study is to compare perinatal outcomes between in vitro fertilization (IVF) twins and naturally conceived twins born to women aged 35 years or older and to provide basic information for taking care of IVF twins born to women aged 35 years or older. METHODS: We reviewed the records of perinatal and neonatal outcomes in 288 IVF twins and 220 naturally conceived twins born to women aged 35 years or older between January 2001 and December 2010 at CHA Bundang Medical Center. RESULTS: No difference was observed in the maternal ages of mothers giving birth to IVF twins and those giving birth to naturally conceived twins. Gestational ages and birth weights of IVF twins were not different from those of naturally conceived twins. Various perinatal outcomes, including gestational diabetes mellitus, pregnancy-induced hypertension, placenta previa, premature amniotic membrane rupture, and need for a Cesarean section did not differ between the 2 groups. However, the 1-min and 5-min Apgar scores (P=0.019 and P=0.045, respectively) were different between the 2 groups. The incidence of early-onset sepsis was lower in the IVF twins than in the naturally conceived twins (P=0.02). However, the 2 groups did not show any difference in the incidence of respiratory distress syndrome, bronchopulmonary dysplasia, patent ductus arteriosus, necrotizing enterocolitis, intraventricular hemorrhage, and other congenital anomalies. CONCLUSION: The perinatal outcomes in IVF twins born to women aged 35 years or older were not significantly different from those of naturally conceived twins.

Association between Tumor Necrosis Factor-alpha Gene Polymorphism and Bronchopulmonary Dysplasia in Preterm Infants

PURPOSE: Several factors including prolonged inflammatory response are thought to contribute to the pathogenesis of bronchopulmonary dysplasia (BPD). The clinical findings can be explained by an increased production of proinflammatory cytokines such as tumor necrosis factor alpha (TNF-alpha). We investigated the relationship between susceptibility to BPD and TNF-alpha promoter polymorphisms to identify genetic factors of the disease. METHODS: Thirty-eight preterm infants who had developed BPD and 55 controlled infants with a birth weight <1,500 g were analyzed for TNF-alpha genotypes. The alleles of five promoter sites (-1031/-863/-857/-308/-238) of TNF-alpha gene were determined using Taqman(R)-based allelic discrimination assays. RESULTS: Gestational age (27(+5)+/-2(+0) wk vs. 29(+2)+/-1(+4) wk, P<0.0001) and birth weight (990+/-270 g vs. 1,220+/-230 g, P<0.0001) were lower in the BPD group compared to the control group. The incidence of respiratory distress syndrome (71.1% vs. 49.1%, P=0.035) and patent ductus arteriosus (71.1% vs. 50.9%, P=0.052) was higher in the BPD group compared to the control group. The frequencies of the alleles and genotypes of five promoter sites (-1031/-863/-857/-308/-238) of TNF-alpha gene did not show differences between the BPD group and the control group. CONCLUSION: TNF-alpha promoter polymorphisms are not associated with susceptibility to BPD in Korean preterm infants.

Congenital Syphilis Presenting with a Generalized Bullous and Pustular Eruption in a Premature Newborn

Congenital syphilis occurs when Treponema pallidum crosses the placenta during pregnancy or from contact with an infectious genital lesion during delivery. Cutaneous manifestations of congenital syphilis are relatively common, occurring in approximately 30% to 70% of patients. Maculopapular lesions, vesiculobullous lesions, condylomata lata lesions, annular lesions, and erythema multiforme-like targetoid lesions have been reported. We report on a premature newborn with congenital syphilis who presented with generalized bullous and pustular eruption and desquamation at birth.