Abstract:
:We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may provide an important diagnostic tool for prenatal diagnosis of MDS in at risk pregnancies when the gene mutation causing the condition has not been delineated. It may also direct the neonatologist in the postnatal care of the newborn detected prenatally with SEPCs in view of the association of this finding with infection, chromosome abnormalities, metabolic disorders and other abnormalities, when such findings are identified serendipitously. Further research is needed to find if the SEPCs detected in our patient is an association or a coincidental finding.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Rohrbach M,Chitayat D,Maegawa G,Shanske S,Davidzon G,Chong K,Clarke JT,Toi A,Tarnopolsky M,Robinson B,Blaser Sdoi
10.1159/000209385subject
Has Abstractpub_date
2009-01-01 00:00:00pages
177-82issue
2eissn
1015-3837issn
1421-9964pii
000209385journal_volume
25pub_type
杂志文章abstract:OBJECTIVE:Understanding the pathomechanisms underlying high meconium calprotectin concentrations is the key to the potential uses of this parameter for the assessment of the intrauterine environment in which the fetus develops. The aim of this study was to measure calprotectin concentrations in serial meconium portions...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000472150
更新日期:2018-01-01 00:00:00
abstract:INTRODUCTION:To evaluate differences between consultants of different disciplines in the prenatal prediction of the type of postnatal surgical closure of an omphalocele. MATERIAL AND METHODS:Twenty-one images of prenatally detected omphaloceles prior to 24 weeks of gestation were included. A standardized form provided...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000430439
更新日期:2016-01-01 00:00:00
abstract::We report a case of fetal goitrous hypothyroidism followed by neonatal transient hyperthyroidism. A fetal goiter (26 x 38 mm) was detected by ultrasound and magnetic resonance imaging at 29 weeks of gestation. Hypothyroidism was confirmed by cordocentesis, which revealed an elevated TSH (255 microIU/ml) and a low free...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000073143
更新日期:2003-11-01 00:00:00
abstract:OBJECTIVE:To determine whether the incidence of pregnancies complicated by meconium-stained amniotic fluid (MSAF) or meconium aspiration syndrome (MAS) differs with seasonal changes. METHODS:An established perinatal database was used to identify all term (> or = 37 weeks) singleton gestations resulting in a live birth...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053911
更新日期:2001-07-01 00:00:00
abstract:AIM:To evaluate the feasibility of offline anatomic M-mode (AMM) to study fetal atrioventricular annulus long-axis displacement (LAD) and compare its performance against real-time conventional M-mode (MM). MATERIAL AND METHODS:Paired AMM and MM LAD studies were recorded prospectively in 54 fetuses, and performance was...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000330790
更新日期:2012-01-01 00:00:00
abstract::The authors describe the first case of an isolated bilateral radial ray reduction occurring in a fetus exposed in utero to valproic acid; the diagnosis was made by ultrasound during the second trimester. This case of an isolated radial ray reduction associated with valproic acid use in pregnancy is a reminder for sono...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263924
更新日期:1994-05-01 00:00:00
abstract::The current interest in early amniocentesis as a possible alternative to chorion villus sampling has driven many centres to attempt cell culture from first trimester amniotic fluid. This study examines the cellular content of 125 amniotic fluid specimens collected between 8 and 18 weeks of gestation and shows that the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263628
更新日期:1991-01-01 00:00:00
abstract::Integrins are adhesion molecules present in endometrial, decidual, and extravillous cytotrophoblast (EVCT) cells. They participate in cell-cell adhesion as well as in adhesion between cells and components of the extracellular matrix, and they play an important role in the endometrial phenotype change that occurs durin...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000053942
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:To present an ethically justified decision-making pathway to use in the evaluation and treatment of pregnant women whose fetuses have twin-to-twin transfusion syndrome (TTTS). METHODS:The ethical principles of beneficence, autonomy and professional integrity were applied to the diagnostic and treatment optio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000103292
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:Separation of Macrosomic, normal and intrauterine growth retarded (IUGR) neonates using the modified Neonatal Growth Assessment Score (NGAS). METHODS:A sample of 23 neonates with evidence of growth acceleration and 74 neonates classified as normal or IUGR in a previous study was used in this investigation. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000074262
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:To assess the current problem of alloimmunization in a tertiary referral center in Croatia. The results obtained were compared to data published worldwide. METHODS:Retrospective case analysis included women with Rhesus (Rh) alloimmunization treated in our department from January 1997 to January 2003. Data of...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086819
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic fa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077959
更新日期:2004-07-01 00:00:00
abstract::Chorioangiomas are usually small, clinically inevident, benign vascular lesions of the placenta, but larger ones may cause serious perinatal and neonatal complications. There is need for in utero intervention in these fetuses. Several interventions are described to relieve pathophysiologic insult on fetus. Alcohol inj...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098718
更新日期:2007-01-01 00:00:00
abstract::We herein reviewed 630 malformed fetuses delivered from 24 weeks of gestation onwards in our institute over the past 22 years. These fetuses were divided into 2 groups: 210 from 1970 to 1982 (group 1) and 420 from 1983 to 1991 (group 2). Twenty-two varieties of congenital malformations were diagnosed antenatally in gr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263857
更新日期:1993-11-01 00:00:00
abstract::Several isolated reports of fetal goiter treatment have shown limited generalizability of approaches and provide no real guidance for optimal timing, dosages, and treatment strategies. Graves' disease accounts for >60% of these cases. Maternal treatments of hyperthyroidism include antithyroid medications such as methi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000437367
更新日期:2016-01-01 00:00:00
abstract::The situation concerning reproductive genetic testing in Switzerland is briefly described. Growing awareness of eugenic implications especially by women is reported. This is also true for all the other German-speaking countries in Europe to a higher extent than in the other European countries. Better professional educ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263889
更新日期:1993-04-01 00:00:00
abstract::The process of monozygotic twinning in animals and humans is presented. In addition, congenital defects in monozygotic twins versus dizygotic twins and singletons is discussed. Overall, the rates of congenital anomalies are higher among whites as compared to blacks, males as compared to females, and multiples as compa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263545
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Chronically compromised uterine perfusion may lead to placental insufficiency and subsequent intrauterine growth restriction (IUGR). Various therapeutic approaches (e.g. vasodilators, low-dose aspirin, intravenous glucose infusion, and hemodilution) are often of limited efficacy. Local anesthetics have been ...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000083907
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the optimal interval between middle cerebral artery (MCA) Doppler measurements when monitoring pregnancies complicated by red cell alloimmunization. METHODS:Thirty-nine fetal blood samplings (FBS) performed on 24 pregnant women with red blood cell alloimmunization followed up using both MCA peak ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089043
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVES:To study the usefulness of direct fetal intravenous immunoglobulin (IVIG) infusion along with intrauterine transfusion (IUT) in the management of severe fetal anemia in rhesus (Rh) alloimmunized pregnancies. METHODS:Thirty-four consecutive Rh-isoimmunized pregnant women who required serial IUTs received eit...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000353236
更新日期:2013-01-01 00:00:00
abstract::Bronchopulmonary sequestration with associated nonimmune hydrops has been previously reported with generally poor prognosis for the neonate. We report a case of bronchopulmonary sequestration and associated pleural effusion successfully managed with a transthoracic catheter placement. The embryology and clinical patho...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263532
更新日期:1990-01-01 00:00:00
abstract::Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated wi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000326300
更新日期:2011-01-01 00:00:00
abstract:INTRODUCTION:The only causal therapy is fetoscopic laser surgery (FLS). The aims of this study were to analyze the long-term outcome of monochorionic twins treated by FLS, including their school career, need for therapy and special aid equipment, and free-time activities, and compare their outcome to matched dichorioni...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000509400
更新日期:2020-01-01 00:00:00
abstract::Fetal responses in 7 cases of mid-trimester amniocentesis, complicated by inadvertent contact between the amniocentesis needle and fetal parts, were analyzed by retrospective videotape review. The incidence of inadvertent needle contact with the fetus was 0.4% (7 of 1,458). Responses included brisk withdrawal of the '...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264210
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:To assess whether subpubic arch angle (SPA) measurement before labor onset can predict labor outcome among low-risk pregnant women. METHODS:3D ultrasound volume was transperineally acquired from a series of nulliparous women with uncomplicated pregnancy at term before the onset of labor. SPA was measured off...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000441517
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To demonstrate the coincidence of fetal magnetocardiography (FMCG) and fetal direct electrocardiography (FDECG) in a case of fetal atrial flutter (AF). METHODS:FMCG and FDECG using a fetal scalp electrode were recorded in the case of fetal AF at 41 weeks' gestation. RESULTS:FMCG revealed fetal AF with 2:1 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000065379
更新日期:2002-11-01 00:00:00
abstract::Previous studies cite different possible etiologies for fetal echogenic bowel (FEB). The purpose of this study was to evaluate the possible etiologies for second-trimester FEB, and to provide clinical guidelines for evaluation of this finding. The study included 79 patients diagnosed with FEB in the second trimester. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020914
更新日期:1999-05-01 00:00:00
abstract:OBJECTIVE:The aim was to study the predictive value and feasibility of fetal scalp lactate microsampling in the management of non-reassuring fetal status during labor. METHODS:A prospective observational study was conducted on cord blood gas samplings from 7,617 singleton and cephalic deliveries at > or =37 weeks of g...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000262281
更新日期:2010-01-01 00:00:00
abstract:INTRODUCTION:Chronic reduction of oxygen and nutrient delivery to the fetus has been related to neurodevelopmental problems. Placental underperfusion induces a significant reduction in oxygen and nutrient delivery, whereas maternal undernutrition causes mainly nutrient deficiency. A comparison of the neurodevelopmental...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000454859
更新日期:2017-01-01 00:00:00
abstract::Electronic fetal monitoring (EFM) is a poor predictor of outcomes attributable to delivery problems. Contextualizing EFM by adding maternal, obstetrical, and fetal risk-related information to create an index called the Fetal Reserve Index (FRI) improves the predictive capacity and facilitates the timing of interventio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000494617
更新日期:2019-01-01 00:00:00