OBJECTIVE: The aim of this study was to evaluate the association between prenatally diagnosed isolated single umbilical artery (iSUA) and perinatal outcomes. METHODS: We searched Medline, Embase, the Cochrane Library, and KoreaMed from inception to January 2016, with no language or regional restrictions, for cohort and case-control studies reporting on the relationship of iSUA and perinatal outcomes. We assessed the odds ratios (ORs) and 95% confidence intervals (CIs) for the occurrence of small for gestational age, preterm birth, pregnancy-induced hypertension, neonatal intensive care unit admission, and perinatal mortality in fetuses with iSUA compared with those in fetuses with three vessel cord. RESULTS: Eleven articles totaling 1,731 pregnancies with iSUA met the selection criteria. Studies varied in design, quality, outcome definition, and results. Meta-analysis carried out within predefined groups showed that the presence of an iSUA was associated with small for gestational age (OR, 2.75; 95% CI, 1.97 to 3.83; P<0.00001), preterm birth (OR, 2.10; 95% CI, 1.72 to 2.57; P<0.00001), pregnancy-induced hypertension (OR, 1.62; 95% CI, 1.00 to 2.63; P=0.05), neonatal intensive care unit admission (OR, 2.06; 95% CI, 1.33 to 3.19; P=0.001), and perinatal mortality (OR, 2.29; 95% CI, 1.32 to 3.98; P=0.003). CONCLUSION: Pregnancies complicated by iSUA are at increased risk for small for gestational age, preterm birth, pregnancy-induced hypertension, neonatal intensive care unit admission and perinatal mortality. Further, large prospective cohort studies are required to improve the quality of prenatal counseling and the neonatal care for pregnancies with iSUA.
Case-Control Studies ; Cohort Studies ; Counseling ; Female ; Fetus ; Gestational Age ; Hypertension, Pregnancy-Induced ; Infant, Newborn ; Intensive Care, Neonatal ; Odds Ratio ; Patient Selection ; Perinatal Mortality ; Pregnancy ; Premature Birth ; Prospective Studies ; Single Umbilical Artery*

PURPOSE: Single umbilical artery (SUA) is the most common malformation of the umbilical cord. However, there have been no studies on the ocular findings in SUA, except for one case report. This study aimed to investigate the ocular findings in children with SUA. METHODS: Fourteen children (eight boys and six girls) with SUA were evaluated retrospectively. All children underwent a complete ophthalmologic examination. RESULTS: The prevalence of abnormal ocular findings in children was up to 42.9%. Refractive errors are detected in four eyes (14.3%): myopia > or =-1.50 diopters (D) in one eye (3.6%) and hyperopia > or =+2.00 D in three eyes (10.7%). Epiblepharon was found in three children (21.4%), and strabismus was detected in one child (7.1%). CONCLUSIONS: Approximately half of the children with SUA showed abnormal ocular findings, therefore, our case series highlight the need for a comprehensive ocular examination and larger prospective research studies in young patients with SUA.
Child, Preschool ; Eyelid Diseases/*congenital/epidemiology ; Eyelids/*abnormalities ; Female ; Humans ; Hyperopia/diagnosis/*epidemiology ; Infant ; Male ; Myopia/diagnosis/*epidemiology ; Prevalence ; Republic of Korea/epidemiology ; Retrospective Studies ; Single Umbilical Artery/*epidemiology ; Strabismus/*epidemiology ; Umbilical Arteries/*abnormalities

The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome.
Chromosome Disorders ; Chromosomes, Human, Pair 1 ; Cleft Palate ; Comparative Genomic Hybridization ; Corpus Callosum ; Developmental Disabilities ; Diagnosis ; Extremities ; Female ; Foot ; Genitalia ; Heart ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability ; Korea ; Microcephaly* ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Seizures ; Single Umbilical Artery

OBJECTIVETo investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes.

METHODSFrom January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes.

RESULTSOf all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score.

CONCLUSIONSFetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.

Adult ; Chromosome Disorders ; diagnostic imaging ; genetics ; Female ; Fetus ; abnormalities ; Humans ; Karyotyping ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Single Umbilical Artery ; diagnostic imaging ; Ultrasonography, Prenatal ; Young Adult

Methotrexate (MTX) is used in the reproductive aged females for the management of medical conditions such as ectopic pregnancy, autoimmune diseases and malignancies. Because of its antimetabolite effect, exposure to MTX during the fetal period can cause multiple anomalies. The most common anomalies related to intrauterine MTX exposure include growth retardation, craniofacial dysmorphism, central nervous system anomalies, cardiac anomalies and skeletal defects. We report a premature baby boy born after 27(+5) weeks of gestation who presented intrauterine growth restriction, single umbilical artery, small chest and anomalies of rib and thoracic vertebra. His mother had received 50 mg of MTX for the treatment of misdiagnosed ectopic pregnancy at 5th week of gestation. During the hospitalization, he was ventilator dependent and pulmonary hypertension persisted despite medical treatment including nitric oxide and sildenafil. Open lung biopsy revealed nonspecific findings suggestive of lung hypoplasia. He died at 141 days after birth due to respiratory failure.
Aged ; Autoimmune Diseases ; Biopsy ; Central Nervous System ; Female ; Hospitalization ; Humans ; Hypertension, Pulmonary ; Infant, Newborn ; Infant, Premature ; Lung ; Methotrexate ; Mothers ; Nitric Oxide ; Parturition ; Piperazines ; Pregnancy ; Pregnancy, Ectopic ; Purines ; Respiratory Insufficiency ; Ribs ; Single Umbilical Artery ; Spine ; Sulfones ; Thorax ; Ventilators, Mechanical ; Sildenafil Citrate

OBJECTIVE: The purpose of this study is to evaluate other anomalies associated with the fetal renal dysgenesis and prognosis. METHODS: Level II sonography were reviewed in the pregnant women who had been diagnosed with fetal renal dysgenesis antenatally from March 1998 to February 2005. Diagnosis was comfirmed by the autopsy or the postnatal studies including sonographic and radiologic evaluation. RESULTS: Thirty fetuses had a fetal renal dysgenesis. There were 2 cases of polycystic kidney, 4 cases of bilateral renal agenesis, 4 cases of unilateral renal agenesis, 3 cases of bilateral multicystic dysplastic kidney and 17 cases of unilateral multicystic dysplastic kidney. The common associated anomalies were congenital heart disease (7 cases), single umbilical artery (5 cases), imperforate anus (2 cases) and tracheo-esophageal fistula (2 cases). Hypospadia and scoliosis with hemivertebra were also noted. CONCLUSION: The most common anomaly associated with renal dysgenesis was congenital heart diseases. If fetal renal dysgenesis is detected antenatally, fetal echocardiography should be performed.
Anus, Imperforate ; Autopsy ; Congenital Abnormalities ; Echocardiography ; Female ; Fetus ; Fistula ; Heart Diseases ; Humans ; Hypospadias ; Kidney ; Kidney Diseases ; Male ; Multicystic Dysplastic Kidney ; Polycystic Kidney Diseases ; Pregnant Women ; Prognosis ; Scoliosis ; Single Umbilical Artery

PURPOSE: To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. METHODS: Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. RESULTS: A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. CONCLUSION: The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.
Birth Weight ; Central Nervous System ; Fertilization in Vitro ; Heart Diseases ; Hospitals, University ; Humans ; Hydronephrosis ; Incidence ; Infant ; Korea ; Live Birth ; Parturition ; Physical Examination ; Prognosis ; Retrospective Studies ; Single Umbilical Artery ; Umbilical Arteries ; Urogenital Abnormalities ; Urogenital System

OBJECTIVE: To evaluate the incidence, combined anomaly, and prognosis of prenatally diagnosed Single Umbilical Artery (SUA) by ultrasound. METHODS: From January 2001 to December 2005, a single umbilical artery (SUA) was observed in 41 cases out of 22,868 deliveries. Among 41 cases, 39 cases were examined by targeted imaging to rule out fetal anomalies in the mid trimester (intrauterine pregnancy 16-27 weeks). The remaining two cases were detected in the third trimester, which were transferred from a local clinic, and were examined by routine sonogram. Pregnancy and perinatal outcome data were retrieved by review of the medical records. RESULTS: The incidence of SUA in our population was 0.18%. Of 41 fetuses with SUA, 8 cases presented congenital malformations (19.5%) such as acrania (n=1), Tetralogy of Fallot (n=1), renal anomalies (unilateral renal agenesis n=2, pyelectasis n=1), esophageal atresia (EA) with tracheoesophageal fistula (TEF)(n=1), omphalocele with choroid plexus cyst (CPC)(n=1), and congenital diaphragmatic hernia with hypoplastic left heart syndrome (n=1). Of 33 fetuses with isolated SUA, 3 (9.1%) demonstrated growth restriction. Karyotype analysis was performed in three cases. Two were normal and omphalocele with CPC was Trisomy 18. CONCLUSION: During the prenatal period, the fetus with SUA by ultrasound examination must be carefully monitored with targeted prenatal ultrasound because of its frequent association with fetal congenital anomalies (19.5%). Isolated SUA without associated anomaly dose not affect the outcome of the pregnancy.
Choroid Plexus ; Esophageal Atresia ; Female ; Fetus* ; Hernia, Diaphragmatic ; Hernia, Umbilical ; Humans ; Hypoplastic Left Heart Syndrome ; Incidence ; Karyotype ; Medical Records ; Neural Tube Defects ; Pregnancy ; Pregnancy Trimester, Third ; Prognosis ; Pyelectasis ; Single Umbilical Artery* ; Tetralogy of Fallot ; Tracheoesophageal Fistula ; Trisomy ; Ultrasonography

Sirenomelia is rare congenital malformation characterized by fusion of the lower extrimities associated anomalies included absence of urogenital system (bilateral renal agenesis, absent ureter, urinary bladder, absent internal and external genitalia), induced severe oligohydramnios, anorectal atresia, single umbilical artery, pulmonary hypoplasia. The incidence is 1:60000 births. Survival is extremely rare, and only possible, in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion. We report a case of sirenomelia without oligohydramnios diagnosed in early second trimester.
Abortion, Therapeutic ; Early Diagnosis ; Ectromelia* ; Female ; Humans ; Incidence ; Oligohydramnios* ; Parturition ; Pregnancy ; Pregnancy Trimester, Second* ; Prognosis ; Single Umbilical Artery ; Ureter ; Urinary Bladder ; Urogenital System

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