Abstract:
BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE:A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable female infant with distinct clinical features. The diagnosis of BWS was confirmed by hypermethylation of the H19 gene on chromosome 11p15.5. CONCLUSION:This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Aagaard-Tillery KM,Buchbinder A,Boente MP,Ramin KDdoi
10.1159/000095837subject
Has Abstractpub_date
2007-01-01 00:00:00pages
18-22issue
1eissn
1015-3837issn
1421-9964pii
95837journal_volume
22pub_type
杂志文章abstract:BACKGROUND:Fetal growth may vary significantly in different congenital heart defects (CHDs). OBJECTIVES:To investigate prenatal growth of CHD fetuses and its correlation with classifications based upon expected oxygen delivery to the fetal brain or structural findings. METHODS:Seventy-nine euploid fetuses with isolat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000493938
更新日期:2020-01-01 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:OBJECTIVE:This systematic review evaluated the existence of risk factors for the fetal manifestation of long QT syndrome (LQTS). METHODS:Prenatal cardiac findings suggestive of fetal LQTS were studied using 30 English literature reports extracted from the Pubmed database (1979 to December 2011) using the search terms ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339150
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Cytokine imbalance has been implicated in placental-related pathologies, i.e. recurrent miscarriage and pre-eclampsia. Such conditions are more prevalent in multiple pregnancies. Twin-to-twin transfusion syndrome (TTTS) is associated with asymmetric placental blood flow and intra-cardiac pressures. We hypo...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000358516
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to create an animal model of obstructive ventriculomegaly in the fetal lamb at 78 days of gestation by injecting maternal blood into the lateral ventricles under ultrasound guidance. METHODS:An endoscope of 1.2 mm housed in a 1.6-mm trocar was introduced into the dilated lateral ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086829
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:Assessing the effects of maternal anxiety on the markers and results of quadruple screening and on maternal anxiety after receiving positive results. METHODS:This prospective cohort study evaluated 1,595 pregnant women referred for prenatal visits. Maternal state/trait anxiety levels were measured, then quad...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000381640
更新日期:2015-01-01 00:00:00
abstract::Fetal stem cell transplantation may rely on material from therapeutic abortions. It is essential that the stem cell transplant does not transmit any microorganisms that may affect the fetus and that genetically abnormal cells are avoided. To evaluate such contamination, human fetal stem cells collected February 1992 -...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264065
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVES:To determine if maternal serum levels of 25(OH)D at 11-13 weeks' gestation are altered in pregnancies that subsequently deliver small for gestational age (SGA) neonates and whether the levels are related to placental function reflected in serum concentration of pregnancy-associated plasma protein-A (PAPP-A)....
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000333810
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVES:The aims of this study were to gain some insight with regard to the safety of the coelocentesis procedure and, to determine pH, pCO2, and base excess status of the extracoelomic fluid 40 days after fertilization. METHODS:Twenty-eight timed-mated baboons from the breeding colony of the Biological Resource La...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020850
更新日期:1998-07-01 00:00:00
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:OBJECTIVE:To evaluate whether amniotic fluid cells contain cardiomyocyte- and neuron-like cells. STUDY DESIGN:In this experimental study, cells from human amniotic fluid samples were analyzed for mRNA expression of microtubule-associated protein 2 (MAP-2), vimentin and oxytocin (OT) receptor via RT-PCR. Immunocytochem...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000200016
更新日期:2009-01-01 00:00:00
abstract::This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 x 5.6 x 7.0 cm, displacing intra-abdominal organs, heart and diaphragm. There was a sma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000082439
更新日期:2005-03-01 00:00:00
abstract::Use of in vitro fertilization techniques increases the frequency of pathological implantation. However, simultaneous pregnancies are a rarity. Ectopic implantation of the embryo may occur in the cervical canal. This is the first case report, which describes successful management of an intrauterine twin pregnancy which...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089300
更新日期:2006-01-01 00:00:00
abstract:AIM:We present and discuss delivery (maternal and fetal) outcome of macerated stillbirths in the third trimester. MATERIAL AND METHODS:In this retrospective observational study, the course of labor was analyzed in 10 stillborn fetuses with a varying grade of maceration during the third trimester. Medical documentation...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000132405
更新日期:2008-01-01 00:00:00
abstract::A spontaneous intra-amniotic hemorrhage is a very rare condition, which has been previously described in symptomatic patients. We report a case of an asymptomatic spontaneous intra-amniotic hemorrhage at 38 weeks of gestation, resulting in a favorable maternal and neonatal outcome following sonographic antenatal detec...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000334884
更新日期:2012-01-01 00:00:00
abstract::Routine ultrasound examination is defined as a screening procedure performed on the total obstetric population usually at 18-20 weeks of gestation as opposed to the selective use of ultrasound that might provide more information for a problem that is suspected on clinical grounds. Standard ultrasound examination inclu...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000020840
更新日期:1998-07-01 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:OBJECTIVE:To determine the safety and efficacy of ventriculoamniotic shunt placement through a hysterotomy in the second trimester of pregnancy as treatment for isolated obstructive hydrocephalus. METHODS:Between 1999 and 2003, four pregnancies with isolated fetal obstructive hydrocephalus in the second trimester were...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095668
更新日期:2006-01-01 00:00:00
abstract::Single fetal death in a twin pregnancy in the late second or early third trimester is associated with significant morbidity and mortality rate in the surviving co-twin, especially in monochorionic twin pregnancies. The common causes are twin-to-twin transfusion syndrome, chromosomal abnormalities, and congenital anoma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000082429
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Lymphangiomas are commonly diagnosed by prenatal ultrasound. These anomalies are most often cervical, but occasionally present in the axilla, thorax and abdomen. We present a case in which intrauterine drainage was followed by an uneventful vaginal delivery. CASE:A 30-year-old G4P3 female was referred to ou...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264305
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVE:Iatrogenic preterm prelabor rupture of membranes (iPPROM; <37 weeks of gestation) is a major complication of fetal surgery. Little information is available about risk factors and incidence. METHODS:We systematically reviewed reported iPPROM rates, gestational age at delivery and fetal survival after represen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000331165
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVES:Successful treatment or prevention of severe hereditary diseases could conceivably be achieved by genetic intervention early in development. Viral vector-mediated fetal gene transfer is proving a valuable tool to test the above concept in relevant animal models. Although the pregnant rabbit is a well-recogni...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000088036
更新日期:2005-11-01 00:00:00
abstract::We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from thei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020831
更新日期:1998-05-01 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::A consanguineous couple had 3 pregnancies in which prenatally diagnosed hydrocephalus was observed (in 1 female and 2 male fetuses). This case appears to represent an autosomal recessive form of hydrocephalus, given the consanguinity, affected sibs of both genders, and no evidence for intrauterine infection, chromosom...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020920
更新日期:1999-07-01 00:00:00
abstract::Spina bifida is one of the most common open neural tube defects. There are two common types of spina bifida cystica, myelomeningocele and meningocele. Special attention to the thickness of the cystic sac (presence of intact skin and subcutaneous tissue) on magnetic resonance imaging is advantageous for determination o...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020996
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVES:To assess the messenger ribonucleic acid expression in placental tissue of growth factors, cytokines, angiogenic and anti-angiogenic factors in one case of recurrent multiple chorioangiomas. METHODS:Complementary deoxyribonucleic acid array analysis was performed on the affected placentae and on normal plac...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098708
更新日期:2007-01-01 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:BACKGROUND:There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000451080
更新日期:2017-01-01 00:00:00