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 sonographers to carefully examine not only the cardiac and neurologic system, but also the extremities, when a fetus is exposed in utero to valproic acid.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Langer B,Haddad J,Gasser B,Maubert M,Schlaeder Gdoi
10.1159/000263924subject
Has Abstractpub_date
1994-05-01 00:00:00pages
155-8issue
3eissn
1015-3837issn
1421-9964journal_volume
9pub_type
杂志文章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: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::Two cases of bilateral congenital diaphragmatic hernia (CDH) followed by fetal ultrasonography were described. Although many cases of CDH are diagnosed by fetal ultrasonography, it is difficult to diagnose bilateral CDH in utero, which is a relatively rare and fatal condition. Two fetuses were diagnosed as having left...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053921
更新日期:2001-07-01 00:00:00
abstract::Since its inception in 1995, the mission of the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia (CHOP) has been to provide comprehensive, multidisciplinary expertise in all facets of prenatal diagnosis, reproductive genetics, and prenatal, perinatal, and postnatal treatment for abno...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000068075
更新日期:2003-03-01 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::We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We d...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000464462
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS:Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000100785
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To determine whether any common maternal-fetal variable has prenatal predictive value of prosthetic repair in congenital diaphragmatic hernia. METHODS:This was a 5-year single-center retrospective review of fetal congenital diaphragmatic hernia referrals. Multiple prenatal variables were correlated with the ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000123611
更新日期:2008-01-01 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: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::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: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::The umbilical artery, aorta, and middle cerebral artery pulsatility indices were investigated by pulsed Doppler ultrasound in 73 fetuses at 18-37 weeks of gestation, before and after fetal blood sampling performed either at the placental cord insertion (n = 46) or at the intrahepatic vein (n = 27). At the end of the p...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000264251
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. METHODS:Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to cor...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020809
更新日期:1998-03-01 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::Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. Prenatal diagnosis is uncommon and mostly confined to the third trimester. We report a case of congenital epulis, which was referred to our departmen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346811
更新日期:2013-01-01 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:OBJECTIVES:To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS:cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digit...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000489124
更新日期:2019-01-01 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::Described as a myeloproliferative disorder mainly affecting elderly women, recent reports now confirm the occurrence of essential thrombocythemia at younger ages, which questions treatment during pregnancy. We report a further case of uneventful full term pregnancy with the use of interferon-alpha for maternal essenti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000207555
更新日期:2009-01-01 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:OBJECTIVE AND METHODS:We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095658
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to create an animal model of obstructive ventriculomegaly in the fetal lamb at 78 days of gestation by injecting maternal blood into the lateral ventricles under ultrasound guidance. METHODS:An endoscope of 1.2 mm housed in a 1.6-mm trocar was introduced into the dilated lateral ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086829
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To determine the effect of shipping blood in Streck blood collection tubes (BCT) prior to processing on cell-free DNA (cf-DNA) levels. METHODS:Blood was collected in ethylenediaminetetraacetic acid (EDTA) and BCT tubes from 10 pregnant women carrying male fetuses. One set of each tube for each subject was pr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000335020
更新日期:2012-01-01 00:00:00
abstract::Functional cardiovascular assessment is becoming an increasingly important tool in the study of fetal pathology. The myocardial performance index (MPI) is a parameter measuring global myocardial function. Since its introduction, several studies have proposed methods to improve its reproducibility and have constructed ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000363181
更新日期:2015-01-01 00:00:00
abstract::A case of sirenomelia in a 27-year-old woman detected at 11 weeks 5 days of gestation is presented. It was suspected by two-dimensional sonography and color Doppler imaging. Three-dimensional ultrasound confirmed the final diagnosis. With detailed evaluation of the acquired volumes, valuable information was obtained a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000236359
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:Understanding the pathomechanisms underlying high meconium calprotectin concentrations is the key to the potential uses of this parameter for the assessment of the intrauterine environment in which the fetus develops. The aim of this study was to measure calprotectin concentrations in serial meconium portions...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000472150
更新日期:2018-01-01 00:00:00
abstract::Spontaneous preterm birth has enormous consequences for newborns, children, and families. Intra-amniotic inflammation (IAI) is the leading cause of spontaneous preterm delivery, mainly at earlier gestational ages. Amniocentesis is the only method used to identify IAI in clinical practice. Although it is an invasive pr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000480232
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:OBJECTIVE:To evaluate the relationship between maternal serum levels of human placental growth hormone (hPGH) and fetal Down syndrome at gestational midtrimester. METHODS:We retrospectively analyzed samples of serum from 21 women with Down syndrome pregnancies detected at gestational midtrimester. The samples were obt...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000116743
更新日期:2008-01-01 00:00:00