Herlyn-Werner-Wunderlich syndrome (HWWS) is a very rare congenital anomaly of the urogenital tract involving Mullerian ducts and Wolffian ducts, and is characterized by the triad of uterine didelphys, unilateral obstructed hemivagina and ipsilateral renal agenesis. Generally it is diagnosed at puberty after menarche due to recurrent pelvic pain or abdominal mass. We report 2 cases of female newborns whose fetal ultrasonography (USG) showed unilateral renal agenesis and were diagnosed with HWWS by postnatal evaluation. Both cases were female newborns who were born at term by vaginal delivery. They had no perinatal problems except suspicious findings of unilateral renal agenesis from fetal USG. Abdominal ultrasonography and pelvic MRI were performed after birth, and they were diagnosed with HWWS. The potential complications of this syndrome such as pyosalpinx, pelvic adhesions and increased risk of abortion or infertility can occur, but without complication, the prognosis is very good with simple surgical treatment. If renal agenesis is detected in a fetus or a newborn, possible anomalies of urogenital tract such as HWWS should be considered; and postnatal evaluation should be performed, as a simple surgical treatment before menarche can prevent unnecessary complications of disease.
Congenital Abnormalities ; Female ; Fetus ; Humans ; Infant, Newborn ; Infertility ; Kidney ; Kidney Diseases ; Menarche ; Mullerian Ducts ; Parturition ; Pelvic Pain ; Prognosis ; Puberty ; Ultrasonography, Prenatal ; Urogenital Abnormalities ; Wolffian Ducts

Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of tumors. We experienced a case of a male newborn with SGS showing midface retraction with infraorbital deep groove, hypospadia, bilateral hydronephrosis, and hypotonia. At the age of 2 months, hepatosplenogmegaly with unknown cause appeared. There was no evidence of hepatoblastoma in abdominal computed tomography. SGS is known to have an autosomal recessive inheritance pattern. Recently, it has been suggested that de novo mutations of SETBP1 causes SGS. However, there has been no report regarding the genetic analysis of SGS in the Korean population. We first sequenced the exones using array CGH and SETBP1 gene analysis in Korea. However, no specific gene mutation was apparent.
Abnormalities, Multiple ; Craniofacial Abnormalities ; Exons ; Female ; Hand Deformities, Congenital ; Heart Defects, Congenital ; Hepatoblastoma ; Humans ; Hydronephrosis ; Hypertrichosis ; Hypospadias ; Infant, Newborn ; Inheritance Patterns ; Intellectual Disability ; Korea ; Male ; Muscle Hypotonia ; Nails, Malformed ; Prevalence ; Risk Factors ; Seizures

PURPOSE: The aim of this study is to investigate the periodical changes of birth rate, perinatal risk factors and outcome of newborns in multi-cultural families with Korean male and non-Korean, Asian female in Gwangju, Chonnnam province. METHODS: We enrolled newborns born in or transferred from other hospital to Chonnam National University Hospital between January 2001 and December 2010. They were categorized into two periods: data from 2001 to 2005 was defined as period I and from 2006 to 2010 was defined as period II. The clinical data of the birth rate, perinatal risk factors and outcome were retrospectively reviewed. RESULTS: Number and rate of newborns in multicultural families increased significantly. The nationality of the mother changed: Vietnamese, Chinese and Cambodian significantly increased; and Japanese and Filipino significantly decreased. As the maternal age tended to be younger in period II, the age gap between the spouses increased, and the paternal age significantly increased, especially in age group of over 45 year-old. Among other perinatal risk factors, premature rupture of membranes and oligohydramnios were decreased. There were no statistical difference in morbidity (except hyperbilirubinemia) and mortality. However, congenital anomalies significantly increased. CONCLUSION: As the number of newborns in multicultural families has increased, the incidence of congenital anomalies also increased. We carefully presumed this result could be caused by increasing paternal age. Careful concern and management are needed for these families and further prospective studies are needed in a larger number of subjects.
Asian Continental Ancestry Group ; Birth Rate ; Ethnic Groups ; Female ; Humans ; Incidence ; Infant, Newborn ; Male ; Maternal Age ; Membranes ; Mothers ; Oligohydramnios ; Parturition ; Paternal Age ; Pregnancy ; Retrospective Studies ; Risk Factors ; Rupture ; Spouses

PURPOSE: To compare the growth and neurodevelopmental outcomes of preterm twins conceived by in vitro fertilization (IVF) with those naturally conceived. METHODS: We reviewed the electronic medical records of 64 children assessed by K-ASQ (Korean ages & stages questionnaires) at 18 month or 24 month of corrected age. Physical growth was evaluated by Z-scores of weight, length and head circumference at 12 months and 24 months. RESULTS: Thirty eight (59.4%) preterm twins were the in vitro fertilization group and 26 (40.6%) preterm twins were in the natural conception group. Significantly higher rate of monochorionicity and small for gestational age were detected in the natural conception group (P value=0.001, P value=0.025, respectively). Z scores of weight, length and head circumference were calculated in 56 (87.5%) infants and 51 (79.7%) infants at 12 months and 24 months, respectively. Physical growth did not differ between the two groups. Fifty nine (92.2%) and 40 (65.2%) preterm twins were assessed by K-ASQ at 18 months and 24 months, respectively. There were no significant differences in the rates of cases scored less than -2 standard deviation below the mean in K-ASQ between the IVF and natural conception groups. CONCLUSION: Growth and neurodevelopmental outcomes of preterm twins conceived by IVF were comparable with that of naturally conceived preterm twins.
Child ; Electronic Health Records ; Fertilization ; Fertilization in Vitro ; Gestational Age ; Head ; Humans ; Infant ; Twins

PURPOSE: With in vitro fertilization (IVF) becoming a common treatment for infertility, there has been an increasing number of studies on perinatal complications related to IVF. This study compares the clinical characteristics of twins at gestational age less than 34 weeks, between IVF and spontaneous conceived. METHODS: We retrospectively reviewed the medical records of 138 preterm twins at gestational age less than 34 weeks, admitted between January 2009 and December 2011 to the neonatal intensive care units of two hospitals. Maternal and preterm infant's clinical characteristics of 58 IVF and 80 spontaneous conceived twins were compared. RESULTS: Maternal age was older in IVF twins (33.3+/-2.8 vs. 31.3+/-4.2, P-value=0.007), and there was no other significant difference between the two maternal groups. Gestational age was lesser in IVF twins (30.6+/-3.2 vs. 31.2+/-2.7, P-value=0.048). Age at the day of full enteral feeding (24.2+/-12.1 vs. 18.2+/-13.2, P-value<0.001) and age at day of full oral feeding (30.1+/-18.5 vs. 25.3+/-19.2, P-value<0.001) were significantly longer in IVF twins as adjusted by gestational age. Retinopathy of prematurity (ROP) showed higher incidence in IVF twins (P-value=0.011), but there was no significant difference between the two groups after adjusting gestational age. CONCLUSION: The clinical characteristics in IVF twins at gestational age less than 34 weeks were not significantly different from those of spontaneously conceived twins except age at the day of full enteral feeding and age at the day of full oral feeding after adjusting by gestational age.
Enteral Nutrition ; Fertilization in Vitro ; Gestational Age ; Humans ; Incidence ; Infant, Newborn ; Infertility ; Intensive Care Units, Neonatal ; Maternal Age ; Medical Records ; Retinopathy of Prematurity ; Retrospective Studies ; Risk Factors ; Seizures ; Twins

PURPOSE: Meconium-related ileus (MRI) is one of the major causes of bowel obstruction in extremely low-birth weight newborn infants (ELBWI). Hyperosmolar water-soluble contrast (HWSC) enemas been recognized to be an effective treatment for MRI. The purpose of this study is to observe clinical findings of MRI accompanied by ELBWI and evaluate the therapeutic efficacy and complications of HWSC enemas. METHODS: A total of 15 ELBWI with MRI were treated with HWSC enemas under the guidance of ultrasonography at the bedside in the NICU between 2008 and 2011. Clinical findings of 15 patients were reviewed and compared with those of 48 ELBWI without MRI administered to NICU during the same period. Radiological findings, therapeutic efficacy and complications of HWSC enemas in patients with MRI were also reviewed. RESULTS: Patients with MRI, compared to those without MRI, showed the following significantly lower Apgar score at 1 minute, higher incidence of preeclampsia, bronchopulmonary dysplasia and sepsis, and longer duration of the first meconium passing and non-feeding per oral. Fourteen patients with MRI had resolved bowel obstruction successfully following 1-2 trials of enema. One case was not relieved following 3 trials of enema, showed no clinical improvement, and died of severe intraventricular hemorrhage and multi-organ failure at 45 days old. No complications associated with HWSC enemas were observed in all cases. CONCLUSION: Administration of HWSC enemas under the guidance of abdomen ultrasonography in the NICU is safe and efficacious for the rapid diagnosis and treatment of MRI even accompanied by ELBWI.
Abdomen ; Apgar Score ; Bronchopulmonary Dysplasia ; Enema ; Hemorrhage ; Humans ; Ileus ; Incidence ; Infant, Newborn ; Meconium ; Pre-Eclampsia ; Sepsis

PURPOSE: We present our experience of 14 neonates with cerebellar hemorrhage and describe the clinical characteristics and the neurodevelopmental outcomes. METHODS: Fourteen neonates were identified as having cerebellar hemorrhage, based on the brain MRI findings at the two university hospitals from January 2007 to July 2011. Twelve preterm infants with the brain MRI taken before the discharge, and 2 term infants having taken the brain MRI with birth asphyxia were enrolled. The electronic medical records of the infants were reviewed. RESULTS: Ten (71.4%) infants were found to have multifocal or lobar cerebellar hemorrhage involving both hemispheres. Three infants had unilateral lesions in the right hemisphere, and one infant had a left hemisphere lesion. Six infants (42%) had co-existing high grade IVH (> or =grade III); 6 infants (42%) had periventricular leukomalacia (PVL); and 6 infants (42%) had posthemorrhagic hydrocephalus (PHH). After discharge, 12 infants (85.7%) were followed at the outpatient clinics for at least 6 months. Two out of 9 infants (22.2%) with other neurological co-morbidities (IVH> or =grade III, PVL, or PHH) had cerebral palsy, and 5 infants (55.6%) had developmental delay assessed by the Bayley scales. None of the infants without other neurological co-morbidities had cerebral palsy or developmental delay. CONCLUSION: Neonatal cerebellar hemorrhage is often diagnosed incidentally on the brain MRI in the preterm infants. If there is no concomitant high-grade IVH, PVL or PHH, cerebellar hemorrhage seems to hardly accompany its own specific symptoms, and the neurodevelopmental outcomes seem to be favorable as well. However, further long-term, large scale studies are necessary.
Ambulatory Care Facilities ; Asphyxia ; Brain ; Cerebral Palsy ; Electronic Health Records ; Hemorrhage ; Hospitals, University ; Humans ; Hydrocephalus ; Infant ; Infant, Newborn ; Infant, Premature ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Parturition ; Weights and Measures

PURPOSE: Extremely-low-birth-weight infants (ELBWIs), especially those < or =24 gestational weeks (GW), presented extremes in IWL and changes of water balance. The purpose of the present study was to retrospectively investigate fluid and electrolyte balance in infants of < or =24-GW during the first postnatal week under high humidification. METHODS: Medical records of extremely-low-birth-weight infants (ELBWIs) who were born and admitted to the Neonatal Intensive Care Unit at Samsung Medical Center during March 2004-September 2010 were reviewed. Fluid intake, urine output, insensible water loss (IWL), and electrolyte balance of 22-GW (n=14), 23-GW (n=40), and 24-GW (n=67) infants nursed in high humidity (95%) were compared with > or =26-GW (n=65) infants nursed in 60% humidity. RESULTS: Survival rate until discharge was 33%, 82%, 75%, and 89.3% in 22-GW, 23-GW, 24-GW, and > or =26-GW infants, respectively. Fluid intake and IWL was higher in 22-GW and 23-WG, but not different in 24-GW, than in > or =26-GW infants. At postnatal days (P) 3-5, the urine output was significantly lower in > or =26-GW infants than in the other age groups. Serum sodium level was significantly higher in 22-, 23-, and 24-GW (P1-2) than in > or =26-GW infants. Hypernatremia (>150 mEq/dl sodium) was more frequent in 22-GW (71%), 23-GW (41%), and 24-GW (21%) than in > or =26-GW infants (14%). CONCLUSION: High-humidity environments significantly decreased fluid intake and improved electrolyte imbalance in 24-GW, but not 22- and 23-GW, infants. Increased IWL in the latter might be related to more immature skin, and implicates the need for additional nurturing conditions.
Apnea ; Electrolytes ; Humans ; Humidity ; Hypernatremia ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Medical Records ; Retrospective Studies ; Seizures ; Skin ; Sodium ; Survival Rate ; Water Loss, Insensible ; Water-Electrolyte Balance

PURPOSE: The objectives of this study were to observe the major neurodevelopmental sequelae of the full-term neonatal seizures, and to identify the risk factors associated with the poor neurodevelopmental outcomes. METHODS: A retrospective review of the medical records of full-term newborns who had clinical and/or electrographic seizures in neonatal intensive care unit of St. Mary's Hospital between June 1994 to July 2007 was performed. To assess the risk factors associated with poor neurological outcome, various factors were analyzed with univariate analysis and multiple regression analysis (SAS for Windows version 9.2). RESULTS: The most common etiology of seizures in full-term infants was hypoxic ischemic encephalopathy (76.2%). The most common type of seizure was subtle (50.9%), followed by multifocal clonic (41.8%), and the seizure type had no significant correlation to the prognosis. Moderate to major EEG abnormalities were significantly related to poor clinical outcome. Additional factors related to neurodevelopmental outcome were Apgar score at five minute, evidence of HIE on brain MRI, Sarnat stages of HIE, number of anticonvulsant drugs used for seizure control and duration for normalization of EEG abnormalities. CONCLUSION: The risk factors observed in this study may be helpful to predict the neurological outcomes in full-term neonates with seizures.
Anticonvulsants ; Apgar Score ; Brain ; Electroencephalography ; Follow-Up Studies ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant, Newborn ; Intensive Care, Neonatal ; Medical Records ; Prognosis ; Retrospective Studies ; Risk Factors ; Seizures

PURPOSE: To compare early and later surfactant instillation in neonates with a birth weight of <1,250 g and/or less than 30 weeks' gestation, following the changes in the National Health Insurance policy of the Republic of Korea. METHODS: Preterm infants diagnosed with respiratory distress syndrome and instilled with an exogenous surfactant from April 2006 to August 2012 were included in this study. The subjects were divided into the two groups: the prophylactic group (n=19) included neonates who were instilled with surfactant within 30 minutes after birth in the delivery or operating room, and the rescue group (n=27) included neonates who were treated with surfactant from 30 minutes to 10 hours after birth for the treatment of respiratory distress syndrome. We compared the two groups in terms of short- and long-term outcomes. RESULTS: The groups showed no significant difference in gestational age and birth weight. The prophylactic group had a shorter duration of mechanical ventilation of synchronized intermittent mandatory ventilation but longer parenteral nutrition and mechanical ventilation, including continuous positive airway pressure without synchronized intermittent mandatory ventilation. There are significant differences in the occurrence of long-term common complications such as patent ductus arteriosus and parenteral nutrition-associated cholestasis. The ventilation index, oxygenation index, mean airway pressure, and arterial-to-alveolar oxygen pressure ratio were lower in the prophylactic group than in the rescue group. CONCLUSION: In comparison with late instillation, early surfactant instillation can reduce the period and requirement of mechanical ventilation. It also reduces the occurrence of patent ductus arteriosus and parenteral nutrition-associated cholestasis in newborns.
Birth Weight ; Cholestasis ; Continuous Positive Airway Pressure ; Ductus Arteriosus, Patent ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; National Health Programs ; Operating Rooms ; Oxygen ; Parenteral Nutrition ; Parturition ; Pregnancy ; Pulmonary Surfactants ; Respiration, Artificial ; Ventilation