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Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.
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Background@#In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and longterm mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies. @*Methods@#Korean National Health Insurance claim data were obtained for neonates born in 2013–2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence. @*Results@#The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery. @*Conclusion@#The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
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Background@#Positron emission tomography (PET) viability scan is used to determine whether patients with a myocardial scar on single-photon emission computed tomography (SPECT) may need revascularization. However, the clinical utility of revascularization decision-making guided by PET viability imaging has not been proven yet. The purpose of this study was to investigate the impact of PET to determine revascularization on clinical outcomes. @*Methods@#Between September 2012 and May 2021, 53 patients (37 males; mean age = 64 ± 11 years) with a myocardial scar on MIBI SPECT who underwent PET viability test were analyzed in this study. The primary outcome was a temporal change in echocardiographic findings.The secondary outcome was all-cause mortality. @*Results@#Viable myocardium was presented by PET imaging in 29 (54.7%) patients.Revascularization was performed in 26 (49.1%) patients, including 18 (34.0%) with percutaneous coronary intervention (PCI) and 8 (15.1%) with coronary artery bypass grafting.There were significant improvements in echocardiographic findings in the revascularization group and the viable myocardium group. All-cause mortality was significantly lower in the revascularization group than in the medical therapy-alone group (19.2% vs. 44.4%, log-rank P = 0.002) irrespective of viable (21.4% vs. 46.7%, log-rank P = 0.025) or non-viable myocardium (16.7% vs. 41.7%, log-rank P = 0.046). All-cause mortality was significantly lower in the PCI group than in the medical therapy-alone group (11.1% vs. 44.4%, log-rank P < 0.001). @*Conclusion@#Revascularization improved left ventricular systolic function and survival of patients with a myocardial scar on SPECT scans, irrespective of myocardial viability on PET scans.
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Background/Aims@#This study evaluated the long-term cardiovascular complications among Korean patients with hypertension and compared them with that of controls without hypertension. @*Methods@#The Korean Hypertension Cohort (KHC) enrolled 11,043 patients with hypertension and followed them for more than 10 years. Age- and sex-matched controls without hypertension were enrolled at a 1:10 ratio. We compared the incidence of cardiovascular events and death among patients and controls without hypertension. @*Results@#The mean age was 59 years, and 34.8% and 16.5% of the patients belonged to the high and moderate cardiovascular risk groups, respectively. During the 10-year follow-up, 1,591 cardiovascular events (14.4%) with 588 deaths (5.3%) occurred among patients with hypertension and 7,635 cardiovascular events (6.9%) with 4,826 deaths (4.4%) occurred among controls. Even the low-risk population with hypertension showed a higher cardiovascular event rate than the population without hypertension. Although blood pressure measurements in the clinic showed remarkable inaccuracy compared with those measured in the national health examinations, systolic blood pressure (SBP) ≥ 150 mmHg was significantly associated with a higher risk of cardiovascular events. @*Conclusions@#This long-term follow-up study confirmed the cardiovascular event rates among Korean hypertensive patients were substantial, reaching 15% in 10 years. SBP levels ≥ 150 mmHg were highly associated with occurrence of cardiovascular event rates.
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Background@#We aimed to determine the current survival rate and short-term outcomes of very-low-birth-weight infants (VLBWIs) in Korea, as well as whether the survival rate and short-term outcomes have improved over time since 2013, which was when the Korean Neonatal Network (KNN) was launched. @*Methods@#This study used data from the annual reports of the KNN from 2013 to 2020. A total of 16,351 VLBWIs born at gestational age (GA) ≥ 22 weeks between January 1, 2013, and December 31, 2020, and who were registered in the KNN were enrolled. Serial outcomes were analyzed according to era (2013–14, 2015–16, 2017–18, and 2019–20). @*Results@#More mothers delivered by cesarean section, had diabetes or hypertension during their pregnancy, and received antenatal steroids when analyzed by era. Fewer infants were intubated at birth and had air leaks when analyzed by era. The overall survival rate of VLBWIs between 2013 and 2020 was 87%. The rate of respiratory distress syndrome was 77% and that of bronchopulmonary dysplasia was 32% between 2013 and 2020. The rates of intraventricular hemorrhage (grade ≥ 3), periventricular leukomalacia, and sepsis decreased over time. The survival rate of infants with a GA of 26 weeks has improved serially according to era. @*Conclusion@#Since the launch of the KNN in 2013, the survival rates of infants with GA 26 weeks and short-term outcomes have improved, which implies a quality improvement in antenatal and delivery room care. Further studies on the long-term neurodevelopmental outcomes of these KNN registrants are warranted.
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Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.
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Background@#It has been known that the fear of contagion during the coronavirus disease 2019 (COVID-19) creates time delays with subsequent impact on mortality in patients with acute myocardial infarction (AMI). However, difference of time delay and clinical outcome in patients with ST-segment elevation myocardial infarction (STEMI) or non-STEMI between the COVID-19 pandemic and pre-pandemic era has not been fully investigated yet in Korea. The aim of this study was to investigate the impact of COVID-19 pandemic on time delays and clinical outcome in patients with STEMI or non-STEMI compared to the same period years prior. @*Methods@#A total of 598 patients with STEMI (n = 195) or non-STEMI (n = 403) who underwent coronary angiography during the COVID-19 pandemic (February 1 to April 30, 2020) and prepandemic era (February 1 to April 30, 2017, 2018, and 2019) were analyzed in this study. Main outcomes were the incidence of time delay, cardiac arrest, and in-hospital death. @*Results@#There was 13.5% reduction in the number of patients hospitalized with AMI during the pandemic compared to pre-pandemic era. In patients with STEMI, door to balloon time tended to be longer during the pandemic compared to pre-pandemic era (55.7 ± 12.6 minutes vs. 60.8 ± 13.0 minutes, P = 0.08). There were no significant differences in cardiac arrest (15.6% vs. 10.4%, P = 0.397) and in-hospital mortality (15.6% vs. 10.4%, P = 0.397) between pre-pandemic and the pandemic era. In patients with non-STEMI, symptom to door time was significantly longer (310.0 ± 346.2 minutes vs. 511.5 ± 635.7 minutes, P = 0.038) and the incidence of cardiac arrest (0.9% vs. 3.5%, P = 0.017) and in-hospital mortality (0.3% vs.2.3%, P = 0.045) was significantly greater during the pandemic compared to pre-pandemic era. Among medications, angiotensin converting enzyme inhibitors/angiotensin type 2 receptor blockers (ACE-I/ARBs) were underused in STEMI (64.6% vs. 45.8%, P = 0.021) and non-STEMI (67.8% vs. 57.0%, P = 0.061) during the pandemic. @*Conclusion@#During the COVID-19 pandemic, there has been a considerable reduction in hospital admissions for AMI, time delay, and underuse of ACE-I/ARBs for the management of AMI, and this might be closely associated with the excess death in Korea.
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Background@#Herein, we aimed to evaluate the maternal mortality ratio and perinatal mortality rate for different perinatal medical care service areas (PMCSAs), which were established by considering their geographical accessibility to maternal-fetal intensive care units (MFICUs) and neonatal intensive care units (NICUs), and to compare the PMCSAs according to their accessibility to these perinatal care services. @*Methods@#Based on the 70 hospital service areas (HSAs) across the country confirmed through the Dartmouth Atlas methodology analysis and gathering of expert opinions, the PMCSAs were designated by merging HSAs without MFICUs and NICUs to the nearest HSA that contained MFICUs and NICUs, based on which MFICU and NICU could be reached within the shortest amount of time from population-weighted centroids in HSAs. PMCSAs where 30% or more of the population could not access MFICUs and NICUs within 60 minutes were identified using the service module ArcGIS and were defined as having access vulnerability. @*Results@#Thirty-three of 70 HSAs in the country did not contain MFICUs and NICUs, and 39 PMCSAs were finally derived by merging 70 HSAs. Ten of 39 PMCSAs (25.6%) were classified as having access vulnerability to MFICUs and NICUs. The national maternal mortality ratio was 9.42, with the highest ratio seen in the region of Wonju (25.86) and the lowest in Goyang (2.79). The national perinatal mortality rate was 2.86, with the highest and lowest rates observed in the Gunsan (4.04) and Sejong (1.99) regions, respectively. The perinatal mortality rates for areas vulnerable and invulnerable to maternal and neonatal healthcare accessibility were 2.97 and 2.92, respectively, but there was no statistically significant difference in this rate (P = 0.789). The maternal mortality ratio for areas vulnerable and invulnerable to maternal and neonatal healthcare accessibility were 14.28 and 9.48, respectively; this ratio was significantly higher in areas vulnerable to accessibility (P = 0.022). @*Conclusion@#Of the PMCSAs across the country, 25.6% (10/39) were deemed to be vulnerable to MFICU and NICU accessibility. There was no difference in the perinatal mortality rate between the vulnerable and invulnerable areas, but the maternal mortality ratio in vulnerable areas was significantly higher than that in invulnerable areas.
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Background/Aims@#Hypertension (HT) has a significant impact on public health and medical expenses. However, HT is a chronic disease that requires the long-term follow-up of a large number of patients. @*Methods@#The Korean Hypertension Cohort (KHC) study aimed to develop a model for calculating cardiovascular risk in HT patients by linking and utilizing the detailed clinical and longitudinal data from hospitals and the national health insurance claim database, respectively. This cohort had a planned sample size of over 11,000 HT patients and 100,000 non-HT controls. Eligible patients were hypertensive patients, who were presenting for the first time and were diagnosed with HT as a main disease from 2006 to 2011. Long-term survival data over a period of approximately 9 years were obtained from the national health insurance claim and national health examination data. @*Results@#This cohort enrolled 11,083 patients with HT. The mean age was 58.87 ± 11.5 years, 50.5% were male, and 31.4% were never-treated HT. Of the enrolled patients, 32.9% and 37.7% belonged to the high and moderate cardiovascular risk groups, respectively. Initial blood pressures were 149.4 ± 18.5/88.5 ± 12.5 mmHg. During the 2 years hospital data follow-up period, blood pressures lowered to 130.8 ± 14.1/78.0 ± 9.7 mmHg with 1.9 ± 1.0 tablet doses of antihypertensive medication. Cardiovascular events occurred in 7.5% of the overall patients; 8.5%, 8.8%, and 4.7% in the high, moderate, and low risk patients, respectively. @*Conclusions@#The KHC study has provided important information on the long-term outcomes of HT patients according to the blood pressure, comorbid diseases, medication, and adherence, as well as health behaviors and health resource use.
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Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.
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Purpose@#To evaluate the risk factors and effects of fluctuations in oxygen saturation on the occurrence and severity of retinopathy of prematurity (ROP). @*Methods@#From January 1, 2013 to January 31, 2020, 260 patients hospitalized in the neonatal intensive care unit of Ajou University Hospital were retrospectively analyzed. @*Results@#Sixty-six patients (25%) were diagnosed with ROP; of them 39 required treatment. In the multivariate regression analysis of ROP severity, the odds ratio (OR) of gestational age was 0.32 (95% confidence interval [CI], 0.22 to 0.47; P<0.0001). The OR of saturation of peripheral oxygen (SpO2) fluctuations at the 4th week after birth was 1.02 (95% CI, 1.02 to 1.12; P=0.041). @*Conclusion@#SpO2 fluctuations in premature infants younger than 30 weeks’ gestational age affects ROP severity, especially at the 4th week of life.
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Gastric volvulus in neonates is an extremely uncommon disorder, which is challenging to diagnose because of its non-specific clinical manifestations. Early diagnosis of gastric volvulus is important to avoid life-threatening complications, such as gastric ischemia, necrosis, and perforation. A definitive diagnosis could be made with radiological upper gastrointestinal series. In this report, we present two cases of neonate gastric volvulus, which were confirmed by radiological upper gastrointestinal series, and the patients underwent surgical treatment.
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Purpose@#Magnetic resonance imaging (MRI) is a useful tool for evaluating brain injury and maturation in preterm infants and often requires sedation to acquire images of sufficient quality. Infant sedation is often associated with adverse events, despite extreme precautions. In this study, the swaddling technique was investigated as an alternative non-pharmacological strategy to obtain brain MRIs of sufficient quality. @*Methods@#We applied the feed and swaddle technique during routine brain MRI as a quality improvement project and compared its morbidity with that of sedation in a historic age-matched group. Seventy-nine very low birth weight infants in the neonatal intensive care unit of Ajou University Hospital (Suwon, Korea) were enrolled. Thirty-two (40.5%) infants were in the feed and swaddling group, and 47 (59.5%) were in the sedation group. @*Results@#The morbidity associated with the cardiopulmonary system (swaddling group vs. sedation group: 53.13% [n=17] vs. 63.83% [n=30], P=0.723) and central nervous system (40.63% [n=13] vs. 29.79% [n=14], P=0.217) were not significantly different between groups. The MRI failure rate was not significantly different (swaddling group vs. sedation group: 12.5% [n=4] vs. 4.3% [n=2], P=0.174). The MRI scanning time was longer in the swaddling group than in the sedation group (76.5±20.3 minutes vs. 61.5±13.6 minutes, P=0.001). Cardiopulmonary adverse events were significantly less common in the swaddling group than in the sedation group (3.13% [n=1] vs. 34.04% [n=16], P=0.002). @*Conclusion@#The success rate of MRI was comparable between the swaddling technique and sedation. Furthermore, despite the drawback of prolonged scan time, cardiopulmonary adverse events are fewer with swaddling than with sedative agents. Therefore, swaddling can be an alternative to sedation or anesthesia when performing neonatal MRI scans.
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Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient’s mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.
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Background/Aims@#Hypertension (HT) has a significant impact on public health and medical expenses. However, HT is a chronic disease that requires the long-term follow-up of a large number of patients. @*Methods@#The Korean Hypertension Cohort (KHC) study aimed to develop a model for calculating cardiovascular risk in HT patients by linking and utilizing the detailed clinical and longitudinal data from hospitals and the national health insurance claim database, respectively. This cohort had a planned sample size of over 11,000 HT patients and 100,000 non-HT controls. Eligible patients were hypertensive patients, who were presenting for the first time and were diagnosed with HT as a main disease from 2006 to 2011. Long-term survival data over a period of approximately 9 years were obtained from the national health insurance claim and national health examination data. @*Results@#This cohort enrolled 11,083 patients with HT. The mean age was 58.87 ± 11.5 years, 50.5% were male, and 31.4% were never-treated HT. Of the enrolled patients, 32.9% and 37.7% belonged to the high and moderate cardiovascular risk groups, respectively. Initial blood pressures were 149.4 ± 18.5/88.5 ± 12.5 mmHg. During the 2 years hospital data follow-up period, blood pressures lowered to 130.8 ± 14.1/78.0 ± 9.7 mmHg with 1.9 ± 1.0 tablet doses of antihypertensive medication. Cardiovascular events occurred in 7.5% of the overall patients; 8.5%, 8.8%, and 4.7% in the high, moderate, and low risk patients, respectively. @*Conclusions@#The KHC study has provided important information on the long-term outcomes of HT patients according to the blood pressure, comorbid diseases, medication, and adherence, as well as health behaviors and health resource use.
ABSTRACT
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.
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Purpose@#To evaluate the risk factors and effects of fluctuations in oxygen saturation on the occurrence and severity of retinopathy of prematurity (ROP). @*Methods@#From January 1, 2013 to January 31, 2020, 260 patients hospitalized in the neonatal intensive care unit of Ajou University Hospital were retrospectively analyzed. @*Results@#Sixty-six patients (25%) were diagnosed with ROP; of them 39 required treatment. In the multivariate regression analysis of ROP severity, the odds ratio (OR) of gestational age was 0.32 (95% confidence interval [CI], 0.22 to 0.47; P<0.0001). The OR of saturation of peripheral oxygen (SpO2) fluctuations at the 4th week after birth was 1.02 (95% CI, 1.02 to 1.12; P=0.041). @*Conclusion@#SpO2 fluctuations in premature infants younger than 30 weeks’ gestational age affects ROP severity, especially at the 4th week of life.
ABSTRACT
Gastric volvulus in neonates is an extremely uncommon disorder, which is challenging to diagnose because of its non-specific clinical manifestations. Early diagnosis of gastric volvulus is important to avoid life-threatening complications, such as gastric ischemia, necrosis, and perforation. A definitive diagnosis could be made with radiological upper gastrointestinal series. In this report, we present two cases of neonate gastric volvulus, which were confirmed by radiological upper gastrointestinal series, and the patients underwent surgical treatment.
ABSTRACT
Purpose@#Magnetic resonance imaging (MRI) is a useful tool for evaluating brain injury and maturation in preterm infants and often requires sedation to acquire images of sufficient quality. Infant sedation is often associated with adverse events, despite extreme precautions. In this study, the swaddling technique was investigated as an alternative non-pharmacological strategy to obtain brain MRIs of sufficient quality. @*Methods@#We applied the feed and swaddle technique during routine brain MRI as a quality improvement project and compared its morbidity with that of sedation in a historic age-matched group. Seventy-nine very low birth weight infants in the neonatal intensive care unit of Ajou University Hospital (Suwon, Korea) were enrolled. Thirty-two (40.5%) infants were in the feed and swaddling group, and 47 (59.5%) were in the sedation group. @*Results@#The morbidity associated with the cardiopulmonary system (swaddling group vs. sedation group: 53.13% [n=17] vs. 63.83% [n=30], P=0.723) and central nervous system (40.63% [n=13] vs. 29.79% [n=14], P=0.217) were not significantly different between groups. The MRI failure rate was not significantly different (swaddling group vs. sedation group: 12.5% [n=4] vs. 4.3% [n=2], P=0.174). The MRI scanning time was longer in the swaddling group than in the sedation group (76.5±20.3 minutes vs. 61.5±13.6 minutes, P=0.001). Cardiopulmonary adverse events were significantly less common in the swaddling group than in the sedation group (3.13% [n=1] vs. 34.04% [n=16], P=0.002). @*Conclusion@#The success rate of MRI was comparable between the swaddling technique and sedation. Furthermore, despite the drawback of prolonged scan time, cardiopulmonary adverse events are fewer with swaddling than with sedative agents. Therefore, swaddling can be an alternative to sedation or anesthesia when performing neonatal MRI scans.
ABSTRACT
Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient’s mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.