Abstract:
INTRODUCTION:Forty percent of Down syndrome (DS) fetuses have congenital heart defects (CHD). An abnormal angiogenic environment has been described in euploid fetuses with CHD. However, the underlying pathophysiologic pathway that contributes to CHD in DS remains unknown. The objective was to compare the expression of angiogenic factors and chronic hypoxia genes in heart tissue from DS and euploid fetuses with and without CHD. METHODS:The gene expression profile was determined by real-time PCR quantification in heart tissue from 33 fetuses with DS, 23 euploid fetuses with CHD and 23 control fetuses. RESULTS:Angiogenic factors mRNA expression was significantly increased in the DS group compared to the controls (soluble fms-like tyrosine kinase-1, 81%, p = 0.007; vascular endothelial growth factor A, 57%, p = 0.006, and placental growth factor, 32%, p = 0.0227). Significant increases in the transcript level of hypoxia-inducible factor-2α and heme oxygenase 1 were also observed in the DS group compared to the controls. The expression of angiogenic factors was similar in DS fetuses and CHD euploid fetuses with CHD. CONCLUSION:Abnormal angiogenesis was detected in the hearts of DS fetuses with and without CHD. Our results suggest that DS determines an intrinsically angiogenic impairment that may be present in the fetal heart.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Sánchez O,Domínguez C,Ruiz A,Ribera I,Alijotas J,Cabero L,Carreras E,Llurba Edoi
10.1159/000441356subject
Has Abstractpub_date
2016-01-01 00:00:00pages
21-7issue
1eissn
1015-3837issn
1421-9964pii
000441356journal_volume
40pub_type
杂志文章abstract::We report a case of nonimmune hydrops fetalis detected at 32 weeks of gestation. Fetal heart rate was 300 beats per minute. Ultrasound and fetal Doppler echocardiography showed it to be due to supraventricular tachycardia (SVT). Following failed maternal therapy with digoxin alone, amiodarone with digoxin was used. Co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000089052
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. METHODS:Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,多中心研究
doi:10.1159/000479507
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To report on the initial experience in a single Brazilian university clinic of the use of fetoscopic endotracheal occlusion (FETO) to treat severe isolated congenital diaphragmatic hernia (CDH). METHODS:The inclusion criteria for FETO for this prospective study were isolated CDH and intrathoracic herniation ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000314617
更新日期:2011-01-01 00:00:00
abstract::Thoracoamniotic shunting has been described as having a beneficial role in the antenatal management of primary pleural effusions in singleton pregnancies. We report a case of a twin pregnancy in which progressive pleural effusions and hydrops were diagnosed in one of the fetuses at 16 weeks of gestation. An initial ev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021007
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:To identify the fetal and neonatal imaging characteristics of meconium peritonitis (MP) and their clinical outcome. We also studied the role of prenatal ultrasound (US) in antenatal diagnosis and its use in predicting the need for surgical intervention postnatally. MATERIAL AND METHODS:We conducted a retrosp...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000449380
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:Fetal gene replacement is a novel, potential therapy for monogenic disorders which are diagnosed prenatally. The purpose of this study was to develop in vitro, respiratory-epithelium targeted, lentiviral (LV)-mediated gene transfer in fetal rabbit tracheas. METHODS:Via triple plasmid transfection, vesicular ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000091348
更新日期:2006-01-01 00:00:00
abstract::Thoraco-amniotic shunting was performed in 51 singleton pregnancies for decompression and chronic drainage of fetal pleural effusions (n = 47), pericardial effusion (n = 1), or pulmonary cysts (n = 3). Five fetuses had chromosomal defects and in 4 the parents elected termination of pregnancy. All 18 non-hydropic fetus...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263586
更新日期:1990-01-01 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::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::It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since alpha-fetoprotein (AFP), f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000020887
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To determine the value of routine transvaginal color Doppler assessment of the uterine arteries at 22-24 weeks of gestation in the prediction of placental insufficiency. METHODS:Women with singleton pregnancies scheduled for routine ultrasound scans at 22-24 weeks were offered Doppler assessment of the uteri...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000178141
更新日期:2008-01-01 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:OBJECTIVES:The aim of this study was to review previous work reporting the concentration of solutes measured in maternal circulation, extra-embryonic celomic fluid, and amniotic fluid, to gain insights into the mechanism that could lead to compartmentalization of fluid and solutes within the gestational sac prior to th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000091358
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Amniotic fluid (AF) and its components, such as fetal urine and meconium, may lead to intestinal alterations in gastroschisis, which cause immaturity of the myenteric plexus and consequent intestinal hypomotility and malabsorption. In this study we identified morphological and histological alterations of the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000109228
更新日期:2008-01-01 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: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: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::Total anomalous pulmonary venous return (TAPVR) is a congenital heart malformation that can be diagnosed in the fetus by indirect indicators on an echocardiogram, such as inability to demonstrate the pulmonary veins returning to the left atrium by color Doppler, the presence of a chamber or the pulmonary venous conflu...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000279330
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To analyze the evolution of the management of delivery and neonatal care in a population of children with correctable malformations born in Parisian maternity hospitals during the period 1985-1994. METHODS:Data were collected by the Paris Registry of Congenital Anomalies from 400,000 births recorded in Paris...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264471
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND/AIMS:Aortic distension waveforms describe the change in diameter or cross-sectional area over the cardiac cycle. We aimed to validate the association of aortic fractional area change (AFAC) with blood pressure (BP) in a fetal lamb model. METHODS:Four pregnant ewes underwent open fetal surgery under general ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000477396
更新日期:2018-01-01 00:00:00
abstract::Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000347049
更新日期:2013-01-01 00:00:00
abstract::We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000309498
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of smoking and number of previous births on maternal serum levels of alpha-fetoprotein and free beta-subunit of human chorionic gonadotropin (free beta-hCG). METHODS:The study included 3,252 completed unaffected singleton pregnancies that proceeded beyond 37 weeks' gestation and result...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000047999
更新日期:2002-01-01 00:00:00
abstract::We present here a case of transient anhydramnios due to premature rupture of the membranes observed from 19 weeks' gestation. At 27 weeks' gestation, the amniotic fluid had increased due to spontaneous membrane sealing. At 32 weeks' gestation, premature rupture of the membranes occurred again. A male fetus was deliver...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151673
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To describe a technique for the visualization and measurement of cerebral aqueduct diameter through a 2D sagittal median plane, and to report its aspect and measurement in fetuses with aqueductal stenosis (AS). METHODS:This was a cross-sectional study of 207 morphologically normal fetuses in low-risk pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000458439
更新日期:2017-01-01 00:00:00
abstract::An exomphalos containing unusual solid and cystic mass was diagnosed during a routine ultrasound examination in the 17th week of gestation. Further investigations were planned but the pregnancy was terminated. The fetopathological examination revealed an umbilical cord teratoma. Although this entity is very rare it sh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000088045
更新日期:2005-11-01 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::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::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::Since 1984 percutaneous mitral balloon commissurotomy (PMC) has replaced closed mitral commissurotomy in most of its indications. However the application of this technique to pregnant women had raised considerable concern essentially because of the risk of fetal distress and irradiation. Of 1,017 PMC performed between...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263936
更新日期:1994-07-01 00:00:00