Abstract:
:Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. Current imaging technologies do not enable differentiation in utero between isolated ASP and SOD. This is due to the fact that optic nerve hypoplasia and endocrine anomalies are never ruled out completely. We report a case of prenatal diagnosis of isolated ASP based on 2D and 3D ultrasound and fetal MRI. Postnatal MRI confirmed prenatal findings and the boy is currently doing well at 18 months of age.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
García-Arreza A,García-Díaz L,Fajardo M,Carreto P,Antiñolo Gdoi
10.1159/000338009subject
Has Abstractpub_date
2013-01-01 00:00:00pages
130-2issue
2eissn
1015-3837issn
1421-9964pii
000338009journal_volume
33pub_type
杂志文章abstract::We describe a term newborn who, after a normal gestational course, presented at birth with absent cardiac activity and no spontaneous breathing. Death occurred within 30 h. Autopsy revealed placental villous immaturity, multiple acute hypoxic lesions, but also chronic hypoxic lesions like endocardial fibroelastosis. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000238105
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To identify determinants of requesting pastoral care (PC) at the time of pregnancy termination for fetal anomalies. METHODS:PC was provided by a hospital-based chaplain. Data were reviewed for 88 women who elected pregnancy termination. Nominal logistic regression and Kruskal-Wallis and Student t tests were ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020819
更新日期:1998-03-01 00:00:00
abstract:BACKGROUND:Prenatal detection of excessive growth remains inaccurate. Most strategies rely on a single cross-sectional evaluation of fetal size during the third trimester. OBJECTIVES:To compare second- to third-trimester longitudinal growth assessment with cross-sectional evaluation at the third trimester in the predi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000477460
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:To determine whether brachial artery flow-mediated dilation (FMD) assessed by ultrasonography during the late first trimester is able to predict the occurrence of hypertensive disorders during pregnancy. METHODS:Maternal endothelial function was assessed by flow-mediated dilation (FMD) of the brachial arter...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366059
更新日期:2015-01-01 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:INTRODUCTION:In intrauterine growth restriction (IUGR), increased uteroplacental vascular impedance contributes to preferential flow to left ventricle (LV), with consequent alteration of its compliance and increased left atrial (LA) pressure. Pulmonary vein pulsatility index (PVPI) reflects the increased impedance to L...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488281
更新日期:2019-01-01 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:OBJECTIVE:To assess the sonographic visualization of the pericallosal arteries in normal fetuses at 11-13 weeks of gestation using 3D ultrasound. METHODS:We prospectively enrolled women with a singleton pregnancy undergoing ultrasound at 11-13 weeks of gestation. A 3D volume with high-definition power Doppler was acqu...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366156
更新日期:2015-01-01 00:00:00
abstract::Although δ-globin gene mutations have no clinical implications, association of β- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have β-thalassemia with a normal amount of HbA(2) caused by the -77 mutatio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000321046
更新日期:2011-01-01 00:00:00
abstract::A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000070810
更新日期:2003-07-01 00:00:00
abstract:OBJECTIVE:This study describes the association between the complexity of congenital cardiac and extracardiac malformations, and the parental decision of pregnancy continuation or termination. METHODS:Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before the 24th week (23 + 6 weeks) of gestat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346564
更新日期:2013-01-01 00:00:00
abstract::The ability to diagnose fetal cardiovascular malformations prenatally has been established during the past 14 years. This has naturally led to an increased interest in the possibility of providing timely therapy in the neonatal period and has raised the prospects for prenatal intervention. Before medical, catheter, an...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263663
更新日期:1992-01-01 00:00:00
abstract::Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000468929
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Efficacy of flecainide acetate for the treatment of fetal supraventricular tachycardia with cardiac failure was reported. CASE:For a case in which maternal digoxin therapy failed, flecainide acetate (400 mg/day) is used from 27 weeks. Cardioversion with improved cardiac function occurred 6 days after treatm...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264498
更新日期:1997-11-01 00:00:00
abstract::In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (betwee...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000264454
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:Tissue Doppler echocardiography is being increasingly used in fetal medicine as a clinical and research tool. The objective of this study was to review the current status of tissue Doppler imaging (TDI) techniques applied to the fetus. METHODS:Fetal cardiac function was evaluated using spectral and color TDI...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000335028
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS:The study population consisted of 309 women wh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075140
更新日期:2004-03-01 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 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: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: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:OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period. METHODS:In cases with a heterozygous mother, fetal sex was det...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000066378
更新日期:2003-01-01 00:00:00
abstract::We report on a premature infant with glucose-6-phosphate dehydrogenase deficiency and severe hyperbilirubinemia. In this patient, all known potential hemolytic agents were excluded and no findings of hemolysis were observed. The crucial role of prematurity in the pathogenesis of this type of jaundice is discussed. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000174571
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVES:This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the sev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020930
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVE:To report the incidence of fetal and maternal complications after selective fetoscopic laser surgery for twin-to-twin transfusion syndrome (TTTS). METHODS:A total of 150 cases of TTTS were treated from January 2004 to June 2009 (period 1, 2004-2006, 62 cases; period 2, 2007 to June 2009, 88 cases). Fetal com...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336227
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS:Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shorten...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000170092
更新日期:2008-01-01 00:00:00
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:OBJECTIVE:This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood. METHODS:Maternal peripheral venous blood samples were collected in sterile t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089062
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:OBJECTIVES:To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amnioti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000111592
更新日期:2008-01-01 00:00:00