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 shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. RESULTS:A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. CONCLUSION:Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Tsutsumi S,Sawai H,Nishimura G,Hayasaka K,Kurachi Hdoi
10.1159/000170092subject
Has Abstractpub_date
2008-01-01 00:00:00pages
420-4issue
4eissn
1015-3837issn
1421-9964pii
000170092journal_volume
24pub_type
杂志文章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:OBJECTIVE:The aim was to study the predictive value and feasibility of fetal scalp lactate microsampling in the management of non-reassuring fetal status during labor. METHODS:A prospective observational study was conducted on cord blood gas samplings from 7,617 singleton and cephalic deliveries at > or =37 weeks of g...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000262281
更新日期:2010-01-01 00:00:00
abstract::Congenital absence of aortic valve (AAV) is a rare cardiac anomaly associated with high mortality. We present 2 prenatally diagnosed cases of AAV. In both cases, fetal echocardiography showed no aortic valve tissue and free aortic regurgitation. At 24 weeks' gestation, case 1 showed a hypoplastic hypocontractile left ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000362386
更新日期:2015-01-01 00:00:00
abstract::Amniotic band syndrome is an uncommon, congenital fetal abnormality with multiple disfiguring and disabling manifestations. A wide spectrum of clinical deformities are encountered and range from simple ring constrictions to major craniofacial and visceral defects. We report a case of constriction amniotic bands involv...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000142139
更新日期:2008-01-01 00:00:00
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::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 validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS:Version 2 was analytically validated using 587 plasma samples with known genot...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000442931
更新日期:2016-01-01 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::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::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:OBJECTIVE:To report our results of the measurement of the amniotic fluid pressure in twin-to-twin transfusion syndrome before and after amniodrainage and the separate measurement in the cavity of the stuck twin and the recipient, respectively, in 2 cases. METHOD:Six patients with severe TTS underwent therapeutic amnio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020980
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVES:To evaluate the perinatal and long-term neurodevelopmental outcome in a cohort of children with intracranial haemorrhage (ICH) due to fetal and neonatal alloimmune thrombocytopenia (FNAIT) and to clearly outline the burden of this disease. SUBJECTS AND METHODS:We performed an observational cohort study and ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488280
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 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:To examine the assumption that amniotic fluid alpha-fetoprotein (AFAFP) levels are different in female and male twin fetuses. DESIGN:Amniotic fluid levels of AFP in pregnancies with female and male fetuses in gender-concordant and gender-discordant twins were compared. A t test of p < 0.05 was considered si...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071015
更新日期:2003-07-01 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:INTRODUCTION:The differential diagnosis of an abdominal cyst can be challenging, and an accurate diagnosis is crucial for optimal antenatal management. The aim of this study was to compare the ante- and postnatal diagnoses of cases with abdominal cyst and to determine the diagnostic accuracy of ultrasonography. MATERI...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000318191
更新日期:2010-01-01 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: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::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:OBJECTIVES:To determine if: (1) human umbilical cord stem cells could survive for 20 h in extra-embryonic celomic fluid obtained at 40 days of development from baboon pregnancies by ultrasound-guided celocentesis and, (2) human hematopoietic stem cell survival could be enhanced by adding increasing concentrations of he...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000097112
更新日期:2007-01-01 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: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:OBJECTIVE:To develop a model for prediction of late preeclampsia (PE; which develops at or after 34 weeks' gestation) based on maternal history and characteristics, mean arterial pressure (MAP), and circulating levels of mRNA for the placenta-specific 1 (PLAC1) gene in maternal plasma at 14-18 weeks' gestation. METHOD...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000360854
更新日期:2014-01-01 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::Congenital laryngeal cysts are rare and can cause upper airway obstruction if they are misdiagnosed. We describe a case of large vallecular cyst diagnosed at 33 weeks of gestation. The purpose of an early diagnosis is to establish a careful perinatal management. If the airway is compromised, a multidisciplinary medica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077969
更新日期:2004-07-01 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
abstract:INTRODUCTION:The aim of this study is to evaluate the incidence and causes of intentional fetal and neonatal demise in twin-twin transfusion syndrome (TTTS). MATERIAL AND METHODS:All TTTS pregnancies managed at our centre between 2000 and 2014 were included. We evaluated incidence and causes of intentional fetal/neona...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000461580
更新日期:2018-01-01 00:00:00
abstract::Microbial invasion and growth in amniotic fluid play an important role in infectious perinatal morbidity and mortality. In order to determine the influence of amniocentesis (ACT) on intra-amniotic infection development, we performed a study of 239 complete microbiological examinations of amniotic fluid specimens obtai...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263904
更新日期:1994-01-01 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