Abstract:
:Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum. It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological eye features. Various cases have been reported which have presented various combinations of symptoms and stigmata of the syndrome. We here present a unique case of septo-optic dysplasia with familial repetition, a considerably early antenatal diagnosis and an accompanying omphalocele, a feature never before connected with the syndrome.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Tanrikulu F,Korucuoglu U,Efeturk T,Yildirim FD,Biri Adoi
10.1159/000207450subject
Has Abstractpub_date
2009-01-01 00:00:00pages
119-22issue
1eissn
1015-3837issn
1421-9964pii
000207450journal_volume
25pub_type
杂志文章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:OBJECTIVE:To determine normal values for amniotic fluid index (AFI) in uncomplicated post-dates singleton pregnancies and compare it to current reference ranges. POPULATION:Four hundred and forty-eight women with singleton, uncomplicated pregnancies, presenting for post-dates assessment (gestation 40+0 to 42+0 weeks) ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000265554
更新日期:2009-01-01 00:00:00
abstract::We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevel...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000317012
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:The incidence of Down syndrome increases with maternal age and a rapid and accurate method for prenatal diagnosis is a necessity. This study was devised to evaluate and compare the methods for detecting trisomy 21 by polymerase chain reaction (PCR)-associated analysis of small tandem repeats (STR) of D21S11 ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020870
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVE:The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. METHODS:In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were meas...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366020
更新日期:2015-01-01 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::A 33-year-old primigravida at 26 weeks gestation presented with fetal hydrops and fetal anemia following prior parvovirus B19 infection. The fetus required two intrauterine transfusions of packed red cells. At 35 weeks gestation, a cesarean section was performed for obstetric reasons. As a consequence of a prenatal bo...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020794
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. I...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000160219
更新日期:2008-01-01 00:00:00
abstract::Of 44 pregnancies obtained at the Tenon Maternity Hospital by in vitro fertilization (IVF) using donated oocytes, 25 have already been completed by spontaneous delivery or cesarean section: 22 (88%) single; 2 (8%) twins, and 1 (4%) triple. The most frequently seen complications of pregnancy were hypertension (16%) and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263647
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:To evaluate lower extremity neuromotor function (LENF) and short-term ambulatory potential following fetal myelomeningocele (fMMC) closure. METHODS:Retrospective chart review of 54 children that underwent fMMC closure at our institution prior to the NIHCD-MOMS trial. Neonatal LENF was compared to predicted f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000197359
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To propose new cutoffs in plasma glucose levels in screening and diagnosis of gestational diabetes mellitus (GDM) in the first trimester of pregnancy. METHODS:A 50-gram oral glucose challenge test (GCT) was performed in 1,716 singleton pregnancies at 6-14 weeks' gestation. In those with a positive GCT, a 100...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000324684
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:We wanted to obtain statistically relevant data about the efficiency of our method for the isolation of fetal nucleated red blood cells (NRBCs) from the maternal circulation. METHODS:More than 600 samples were investigated using a triple density gradient followed by magnetic separation of anti-CD71-labeled c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020854
更新日期:1998-09-01 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: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:OBJECTIVES:We evaluated the hypothesis that in fetuses with congenital heart disease (CHD) there is a correlation between the expected pattern of in utero brain blood supply and the severity of neurodevelopmental impairment. METHODS:A total of 58 fetuses with CHD and 58 controls underwent a Doppler ultrasound and feta...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000439527
更新日期:2016-01-01 00:00:00
abstract::In order to elucidate the effects of corticosteroids on fetal hearts during midtrimester, pregnant rats were injected with a daily dose of betamethasone (1 mg/kg) from the 12th day through the 17th day of pregnancy. The fetal cardiovascular and pulmonary systems were studied on the 21st day of pregnancy (term). The tr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263754
更新日期:1993-03-01 00:00:00
abstract::The objectives of the study were to assess the ability of a fetal pulse oximeter to measure the fetal oxygen saturation (SPO2) continuously during labor and to assess the correlation between readings of fetal pulse oximetry and cord blood gases at birth. The Nellcor N-400 Fetal Oximeter was used in 62 women prospectiv...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264277
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Fetal pleural effusions are either primary or secondary to chromosomal or structural fetal abnormalities. In both cases, thoraco-amniotic shunts may be indicated to prevent life-threatening consequences. In this report, we describe a rare complication of shunts and successful in utero manageme...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000450606
更新日期:2018-01-01 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::Fetal growth restriction with oligohydramnios occurring in the preterm gestation is associated with significant fetal morbidity and mortality. We investigated the possibility that transabdominal amnioinfusion might relieve acute cord compression and allow prolongation of gestation long enough to administer corticoster...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264266
更新日期:1995-11-01 00:00:00
abstract::Fetal magnetocardiograms (FMCGs) were recorded in a case of fetal complete heart block (CHB) from the 30th to the 37th week of gestation using the multichannel SQUID system (Hitachi, Japan). M-mode ultrasonography and direct fetal electrocardiography using needle electrodes revealed fetal CHB. We identified independen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053878
更新日期:2001-01-01 00:00:00
abstract:INTRODUCTION:An increasing number of congenital anomalies are diagnosed prenatally. Understanding the implications of these diagnoses on the life of their child is critical for parents, and the surgical consultation is often the primary venue for this education. Little is known about the parent perspective on prenatal ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000479504
更新日期:2018-01-01 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::The authors performed a color Doppler ultrasound examination of both renal and interlobar arteries of 15 pregnant women affected by pregnancy-induced hypertension. The pulsatility index (PI), the resistance index (RI) and the systolic/diastolic ratio (S/D) values were compared with those of 15 healthy pregnant women o...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264292
更新日期:1996-03-01 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::Reproductive genetic testing technologies are expanding at an exponential rate. Nurses are increasingly being called upon to provide these services to women. This paper discusses the status of nursing education in genetics and identifies immediate needs for nurses in order to be adequately prepared to respond to these...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263892
更新日期:1993-04-01 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: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:OBJECTIVE:To assess the risk for preeclampsia (PE) by maternal characteristics, uterine artery pulsatility index (Ut-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-33 weeks' gestation. METHODS:This was a screening study in singleton pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000362518
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. MATERIALS AND METHODS:A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of g...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,多中心研究
doi:10.1159/000477208
更新日期:2018-01-01 00:00:00