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, chromosome abnormality, or neural tube defect.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Brady TB,Kramer RL,Qureshi F,Feldman B,Kupsky WJ,Johnson MP,Evans MIdoi
10.1159/000020920keywords:
subject
Has Abstractpub_date
1999-07-01 00:00:00pages
198-200issue
4eissn
1015-3837issn
1421-9964pii
20920journal_volume
14pub_type
杂志文章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:OBJECTIVE:To evaluate pre-intervention echocardiographic parameters of cardiac function in fetuses who survive without hydrops as compared to fetuses who develop hydrops or perinatal death in the setting of sacrococcygeal teratoma (SCT) and twin-reversed arterial perfusion sequence (TRAP). METHODS:Clinical, echocardio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000330762
更新日期:2011-01-01 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: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:OBJECTIVE:The objective of this study was to determine the potential of human embryonic stem (hES) cells to provide an in vitro model of human extraembryonic endoderm development. METHODS:The hES cell line HES-2 was propagated in Dulbecco's modification of Eagle's medium (DMEM) in the presence of 20% fetal calf serum ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000076701
更新日期:2004-05-01 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::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::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::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:BACKGROUND:Hemimegalencephaly (HMC) is a disorder associated with enlarged and dysplastic hamartomatous overgrowth of all or part of the one cerebral hemisphere that can be isolated or associated with other syndromes. In the normal development of the brain it is important to bear in mind that there are two main process...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000322012
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVES:To evaluate the changes in the approaches used for invasive prenatal diagnosis for beta-thalassemia and karyotyping at a single center from 1977 to 2004. METHODS:For beta-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi s...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000092464
更新日期:2006-01-01 00:00:00
abstract::Here we report a case of conjoined twins that were diagnosed antenatally by routine two-dimensional transvaginal ultrasound examination at as early as the 9th week of gestational age. The fetuses were of the thoraco-omphalopagus type and were sharing the liver, as confirmed by color Doppler. There was a reversed flow ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000093893
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to investigate the development of midgut herniation in vivo using three-dimensional (3D) ultrasonographic volume and distance measurements and to create reference data for physiological midgut herniation in ongoing pregnancies in a tertiary hospital population. MATERIALS AND METH...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000489260
更新日期:2019-01-01 00:00:00
abstract::The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264230
更新日期:1995-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVE:To review the incidence of posthysterotomy chorioamniotic membrane separation and delivery outcome following open fetal surgery [myelomeningocele (MMC); cystic adenomatoid malformation (CCAM); congenital diaphragmatic hernia (CDH); sacrococcygeal teratoma (SCT)]. STUDY DESIGN:Retrospective review of a matern...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071972
更新日期:2003-09-01 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: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::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. C...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000338009
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To estimate the odds of severe cerebral injury and long-term neurodevelopmental impairment in monochorionic twins treated with amnioreduction versus laser surgery for twin-twin transfusion syndrome. METHODS:A systematic review and meta-analysis of studies on cerebral injury and long-term impairment after amn...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,meta分析,评审
doi:10.1159/000341814
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To examine the outcomes of patients with twin reversed arterial perfusion (TRAP) sequence in which the acardiac twin was journal_title:Fetal diagnosis and therapy pub_type: 杂志文章 doi:10.1159/000295176 更新日期:2010-01-01 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::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:BACKGROUND:In newborn the finding of adrenal gland hemorrhage is not uncommon. Only few cases of prenatal diagnosis of fetal adrenal bleeding by sonography have been reported. CASE:In a 28-year-old nulliparous pregnant woman, routine sonography performed in 35 + 2 weeks of gestational age showed a cystic mass on the u...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264316
更新日期:1996-07-01 00:00:00
abstract::Evaluation of the adequacy of fetal growth by measurements of fetal size required theoretical formulae for the assessment of present size from previous measurements. The various models presented in the literature assume the same mathematical formula for the whole pregnancy. In this study, a model of different polynomi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263955
更新日期:1994-09-01 00:00:00
abstract::Two cases of lissencephaly were prenatally diagnosed by a magnetic resonance image (MRI). Smooth surface of brain and remarkable sylvian fissure, which were barely detectable by ultrasound, were easily observed in MRI. MRI is the most appropriate tool in diagnosing lissencephaly. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263748
更新日期:1993-01-01 00:00:00
abstract::The loss of middle cerebral artery compensatory vasodilation appears to be ominous in fetuses with absent end-diastolic umbilical waveforms. The authors report a case with a loss of the 'brain-sparing effect' 24 h before fetal death. Current pathophysiological explanations are discussed. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264215
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095846
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVES:To describe the course of total and ionized magnesium and total calcium levels in maternal serum during low-risk pregnancies and to compare women who developed preterm labor and delivery with those who delivered at term. METHODS:209 women with low-risk pregnancies were enrolled in a prospective trial before...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020952
更新日期:1999-11-01 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