No abstract available.
Congenital Abnormalities ; Pregnancy* ; Prevalence* ; Single Umbilical Artery*

Limb-body wall complex, also known as the short umbilical cord syndrome or the body stalk anomaly, is a poorly defined, sporadic group of congenital anomaly characterized by a collection of protean fetal malformation, deformation and disruption. Accurate diagnosis is often difficult because of its variable presentation pattern and the absence of exactly same case. Ultrasonographic detection of abdominoschisis, scoliosis, abnormalities of the lower extremities, a single umbilical artery and a short umbilical cord is important for the prenatal diagnosis. This complex should be distinguished from other body wall defects including omphalocele and gastroschisis since the prognosis for limb-body wall complex is uniformly poor. We experienced a case of limb-body wall complex in a fetus of intrauterine pregnancy at 15 weeks who was terminated because of ultrasonographic demonstration of a large abdominal defect with eventration of abdominal organs, short umbilical cord and kyphoscoliosis. Thus, we report a case with brief review of the literatures.
Diagnosis ; Fetus ; Gastroschisis ; Hernia, Umbilical ; Lower Extremity ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Scoliosis ; Single Umbilical Artery ; Ultrasonography, Prenatal* ; Umbilical Cord

We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.
Anus, Imperforate ; Chromosomes, Human, Pair 16* ; Hearing Loss, Sensorineural ; Heart Septal Defects, Ventricular ; Single Umbilical Artery

We report a case of simple renal cortical cyst in neonate with review of literature. A female infant weighing 3, 400 g was delivered. Because of single umbilical artery found on physical examination, abdominal ultrasonogram was performed. A 3 mm sized renal cortical cyst was found in right kidney, but no associated symptoms or signs including renal functions were found. Follow up ultrasonogram was performed a month later and it was spontaneously disappeared.
Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn* ; Kidney ; Physical Examination ; Single Umbilical Artery ; Ultrasonography

PURPOSE: It is known that single umbilical artery is frequently associated with gastrointestinal or urogenital anomaly, however, routine renal sonography has been debated in healthy neonate with isolated single umbilical artery. This study is designed to determine the usefulness of routine renal sonography in apparently healthy infants with an isolated single umbilical artery. METHODS: Thirty healthy neonates with a single umbilical artery without a major anomaly from January 1995 to July 2002 were enrolled. The authors investigated the clinical background of babies and their mothers after renal sonography after 72 hours of age. When the abnormalities were found at the first renal sonography, the severity of hydronephrosis and degree of obstruction and renal function were analyzed by follow up renal sonography, voiding cystourethrography(VCUG) and technetium-99m-dimercaptosuccinic acid(DMSA) scan or technetium-99m-mercaptoacetyl-triglycerine (MAG3) scan. RESULTS: Among the 30 healthy patients with isolated single umbilical artery, five patients(16.7%) showed abnormalities on first renal sonography with one major(3.3%) and four(13.4%) minor renal anomaly(minimal or mild hydroneohrosis). One major renal anomaly(severe hydronephrosis) showed severe decreased renal function on MAG3 scan without reflux, and the other four minor regressed spontaneously on follow up study. CONCLUSION: The value of routine early renal sonograpy for detecting renal anomaly in healthy infants with an isolated single umbilical artery remained unclear because most of the anomalies would regress spontaneously in the follow up study.
Follow-Up Studies ; Humans ; Hydronephrosis ; Infant* ; Infant, Newborn ; Mass Screening* ; Mothers ; Single Umbilical Artery*

Congenital laryngeal atresia is a rare cause of airway obstruction that is almost always lethal within a few minutes after birth. Therefore congenital laryngeal atresia should be diagnosed in the prenatal period. If not, it should be considered in newborn infant with life-threatening symptoms at birth such as cyanosis and dyspnea that need emergent procedures like a tracheotomy. We report a case of congenital laryngeal atresia with single umbilical artery diagnosed in a one-day-old neonate who required a tracheotomy and ventilator care after intubation failure.
Airway Obstruction ; Cyanosis ; Dyspnea ; Humans ; Infant, Newborn ; Intubation ; Parturition ; Single Umbilical Artery* ; Tracheotomy* ; Ventilators, Mechanical

OBJECTIVE: To evaluate the pattern of associated structural anomalies, perinatal outcomes and obstetrical complications in fetuses with single umbilical artery. METHODS: 27 fetuses with a single umbilical artery were detected between May 1995 and June 2005 at our hospital. All medical records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications and perinatal outcome. RESULTS: Of the 27 fetuses, 1 (3.7%) was terminated and 1 (3.7%) was expired. 13 fetuses (48.1%) had an associated structural anomalies. The structural anomalies found in association with single umbilical artery were in the cardiovascular system (6 cases, 46.2%), urogenital system (6 cases, 46.2%), central nervous system (3 cases, 23.1%), neuromuscular system (3 cases, 23.1%) and gastrointestinal system (1 case, 7.7%). 6 cases (46.2%) among these had multiple malformations. Karyotypic analyses were available only in 3 cases and one of these was chromosomally abnormal. CONCLUSION: Scanning the umbilical cord should be one of the essential parts of the second trimester ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examination including fetal echocardiography and fetal karyotyping should be recommended for search of associated structural and chromosomal abnormalities.
Cardiovascular System ; Central Nervous System ; Chromosome Aberrations ; Demography ; Echocardiography ; Female ; Fetus* ; Humans ; Karyotyping ; Medical Records ; Pregnancy ; Pregnancy Complications ; Pregnancy Trimester, Second ; Single Umbilical Artery* ; Umbilical Cord ; Urogenital System

PURPOSE: Single umbilical artery (SUA), the most common malformation of the umbilical cord, has long been of interest because of its association with congenital malformations. This retrospective study was aimed to evaluate the incidence of SUA and its associated malformations. METHOD: The study population was inborn neonates of Kang-Nam Sacred Heart Hospital of Hallym University. We reviewed retrospectively the medical records of 15 infants with SUA, including 1 infant identified in prenatal ultrasonography. RESULTS: The incidence of SUA was 0.2% (15/9,351 cases). The mean birth weight was 2,658 gram (ranged from 1,060 to 3,700gram), and the mean gestational age was 38 weeks (ranged from 32 to 40 + 3weeks). Six cases (40%) of 15 cases with SUA were associated with congenital malformations : urogenital malformations in 4 cases, cardiovascular malformations in 3 cases, and musculoskeletal malformations in 3 cases. Only 1 case had abmormal karyotype, trisomy 18. CONCLUSION: Because SUA is highly associated with congenital malformations newborns with SUA should have a thorough and complete physical examination at birth and physicians should also be alert to the possibility of congenital malformations not evident at initial examination. Furthermore, prenatal detection of SUA has potential importance, since it may indicate that further work is necessary to rule out associated malformations and to help determine whether management should beltered.
Birth Weight ; Gestational Age ; Heart ; Humans ; Incidence ; Infant ; Infant, Newborn ; Karyotype ; Medical Records ; Parturition ; Physical Examination ; Retrospective Studies ; Single Umbilical Artery* ; Trisomy ; Ultrasonography, Prenatal ; Umbilical Cord

PURPOSE: Prenatal diagnosis of congenital heart disease has been made by fetal echocardiography and its clinical impact on the outcome of complete atrioventricular septal defect(AVSD) cases has been analysed. METHODS: A retrospective study was performed for the fetal cases for complete AVSD diagnosed, confirmed postnatally or at second study and/or at autopsy and/or follow up at CHA hospital between January 1993 and December 2001. The outcome of complete AVSD has been analysed, and the associated anomalies & chromosomal defects has been described. RESULTS: There were 450 cases of significant CHD that had been diagnosed prenatally during the study period. Of whom 35 cases had complete AVSD, and 32 cases had complete AVSD associated with visceral heterotaxy. In the cases with complete AVSD who with chromosomal study, 53.8% had Down syndrome and an additional 7.7% had other chromosomal anomaly. Associated cardiac malformation was 34.2%. Extracardiac anomaly without chromosomal defect was founded in 5 cases(14%) included polydactyly, hydrocephalus, duodenal atresia, omphalocele, cleft lip and single umbilical artery. Among 35 fetal complete AVSD cases, 29 cases of complete AVSD has been terminated, 1 case died in utero, 1 case died at neonatal period and 4 cases were referred to cardiac center for planned delivery. The most common factors of termination were extracardiac and chromosomal anomaly. CONCLUSION: Among the significant CHD, incidence rate of complete AVSD was 7.8%. And the most of the complete AVSD has been terminated. 4 cases(11.4%) were referred to the cardiac center for planned delivery. The rate of termination was 82.9%. Fetal diagnosis of complete AVSD greatly increased the rate of termination.
Autopsy ; Cleft Lip ; Diagnosis ; Down Syndrome ; Echocardiography ; Follow-Up Studies ; Heart Defects, Congenital ; Hernia, Umbilical ; Heterotaxy Syndrome ; Hydrocephalus ; Incidence ; Polydactyly ; Prenatal Diagnosis* ; Retrospective Studies ; Single Umbilical Artery

OBJECTIVE: This study was conducted to investigate the presence and pattern of Hyrtl anastomosis, and to examine the effect that each type has on obstetrical outcome. METHODS: This study was carried out from January of 2001 to May of 2003 on 904 randomly selected patients who had given birth by Cesarean section or vaginal delivery at Catholic University Holy Family Hospital. Immediately proceeding delivery, barium sulfate was infused into the umbilical artery. This was followed by umbilical artery dissection to grossly confirm Hyrtl anastomosis. In order to evaluate the effect that each type of anastomosis has on obstetrical outcome, we retrospectively examined chart for birth weight, Apgar score, results of cord blood gas analysis, obstetrical complications, etc. RESULTS: Out of the 904 cases studied, 99.7% possessed Hyrt's anastomosis with frequency according to type as follows: 50.8% oblique, 48.0% transverse, 1.8% of anastomosis between one umbilical artery and the branch of the other, 1.6% of fusion of branches of each umbilical artery, 0.6% of anastomosis represented by two separate vessels between umbilical arteries, 0.1% of anastomosis between branches of each umbilical artery, 0.1% lacking anastomosis, and 0.2% of a single umbilical artery. In terms of obstetrical outcome, there was no significant difference for term and preterm infants in the frequency of type of Hyrtl's anastomosis according to birth weight, maternal age, Apgar score, obstetrical complications, etc. CONCLUSION: In an attempt to verify the presence and type of Hyrtl anastomosis, 8 types of Hyrtl's anastomosis were found, of which the oblique and transverse variety were the most common. There was no significant difference in the types of Hyrtl's anastomosis in relation to obstetrical outcome. Frequency was also similar with oblique and transverse types being the most common. Further studies detailing anatomical features of and blood flow/volume through the anastomosis are required in order to better understand the effects of Hyrtl's anastomosis on obstetrical outcome.
Apgar Score ; Barium Sulfate ; Birth Weight ; Cesarean Section ; Female ; Fetal Blood ; Humans ; Infant, Newborn ; Infant, Premature ; Maternal Age ; Parturition ; Pregnancy ; Retrospective Studies ; Single Umbilical Artery ; Umbilical Arteries