Abstract:
:The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Joó GJ,Beke A,Papp C,Tóth-Pál E,Szigeti Z,Bán Z,Papp Zdoi
10.1159/000083897keywords:
subject
Has Abstractpub_date
2005-05-01 00:00:00pages
161-6issue
3eissn
1015-3837issn
1421-9964pii
83897journal_volume
20pub_type
杂志文章abstract::Five postmortem fetuses were scanned by magnetic resonance (MR) imaging. Of eight three-dimensional (3D) data sets reconstructed on an MGI workstation, five sets demonstrated detailed 3D fetal cardiac structures, and one depicted clear information regarding the disposition and compression of the heart and lungs in dia...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264358
更新日期:1996-11-01 00:00:00
abstract::Functional residual capacity (FRC) was measured at 2-8 (median 4) weeks of age in 100 infants whose mothers had entered a randomized trial of amniocentesis versus chorion villus sampling (CVS) at 10-13 weeks gestation. At measurement all of the infants were well and none had respiratory problems. No significant differ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263638
更新日期:1991-01-01 00:00:00
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::Fetal responses in 7 cases of mid-trimester amniocentesis, complicated by inadvertent contact between the amniocentesis needle and fetal parts, were analyzed by retrospective videotape review. The incidence of inadvertent needle contact with the fetus was 0.4% (7 of 1,458). Responses included brisk withdrawal of the '...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264210
更新日期:1995-03-01 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::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:OBJECTIVES:To assess the messenger ribonucleic acid expression in placental tissue of growth factors, cytokines, angiogenic and anti-angiogenic factors in one case of recurrent multiple chorioangiomas. METHODS:Complementary deoxyribonucleic acid array analysis was performed on the affected placentae and on normal plac...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098708
更新日期:2007-01-01 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: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: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::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::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::We have analyzed morphometric measurements from midgestational fetal necropsies and shown that arm and foot lengths are linear relationships versus gestational age (GA). Using foot length as the GA determinant, we found that the ratio of arm:foot length was also a linear relationship and was decreased in trisomy 21 fe...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000263920
更新日期:1994-03-01 00:00:00
abstract:OBJECTIVE:Ectrodactyly is a rare malformation with various presentations. The current report describes a case of ectrodactyly detected using 2-dimensional (2D) and 3-dimensional (3D) ultrasonography at 16 weeks' gestation. METHODS AND RESULTS:The 2D ultrasonographic findings were ectrodactyly in the right hand and mon...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151331
更新日期:2008-01-01 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: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: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:OBJECTIVE:To assess whether subpubic arch angle (SPA) measurement before labor onset can predict labor outcome among low-risk pregnant women. METHODS:3D ultrasound volume was transperineally acquired from a series of nulliparous women with uncomplicated pregnancy at term before the onset of labor. SPA was measured off...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000441517
更新日期:2016-01-01 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: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:OBJECTIVES:Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The struct...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020970
更新日期:2000-01-01 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::Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000235883
更新日期:2009-01-01 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 study the acute effect of epinephrine on hemodynamics of noninnervated normal and retinoic-acid-treated embryos. DESIGN:Prospective interventional study design. METHODS:A total of 190 stage 15 (50-55 h of incubation) chick embryos were randomly treated with 1 microg all-trans retinoic acid and reincubate...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000078996
更新日期:2004-09-01 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:OBJECTIVE:Our purpose was to evaluate the relationship between meconium-stained amniotic fluid (MEC-AF) and amniotic fluid volume (AFV) and their impact on the risk of cesarean delivery for fetal indications in term pregnancies. METHODS:1,655 live-born singleton gestations delivering at > or = 37 weeks within 7 days o...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048013
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:Ureteropelvic junction obstruction is a common cause of end-stage pediatric nephropathy. Our aim was to investigate whether in utero decompression can influence its development. METHODS:A silastic tube was tied around the superior segment of the left ureter to cause partial unilateral obstruction in 22 fetal...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000320966
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the optimal interval between middle cerebral artery (MCA) Doppler measurements when monitoring pregnancies complicated by red cell alloimmunization. METHODS:Thirty-nine fetal blood samplings (FBS) performed on 24 pregnant women with red blood cell alloimmunization followed up using both MCA peak ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089043
更新日期:2006-01-01 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