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) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy. CONCLUSION:We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Delahaye A,Pipiras E,Delorme-Vincent C,Benkhalifa M,Kasakyan S,Devisme L,Wolf JP,Benzacken Bdoi
10.1159/000095658subject
Has Abstractpub_date
2006-01-01 00:00:00pages
485-8issue
6eissn
1015-3837issn
1421-9964pii
95658journal_volume
21pub_type
杂志文章abstract:BACKGROUND/AIMS:Aortic distension waveforms describe the change in diameter or cross-sectional area over the cardiac cycle. We aimed to validate the association of aortic fractional area change (AFAC) with blood pressure (BP) in a fetal lamb model. METHODS:Four pregnant ewes underwent open fetal surgery under general ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000477396
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the reproducibility of both a new contrast-enhancing technique (Oblique View eXtended Imaging, OVIX; Samsung) and the recently reported 3-D multiplanar technique (MPT) in the measurement of the subpubic angle (SPA) among a group of women at term gestation. In addition, we ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000380947
更新日期:2015-01-01 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:To determine the accuracy of estimated fetal weight (EFW) at the limit of viability in a delivery room setting and its impact on the prediction of neonatal outcome. MATERIAL AND METHODS:In this retrospective, single-center cohort study we included patients with preterm birth between 230/7 and 260/7 weeks ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000450943
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To determine the positive and negative predictive values of recalled exposure to chickenpox for identifying anti-varicella-zoster virus (VZV) seropositive parturient women. METHODS:Blood samples were taken from laboring women during February 1998: All women completed questionnaires concerning a history of ch...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053952
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to objectively evaluate prolonged fetal heart rate (FHR) monitoring, which has been difficult to do with conventional cardiotocogram (CTG). METHODS:FHR was analyzed by an artificial neural network computer that calculates probabilities of normal, pathologic and suspicious outcom...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071982
更新日期:2003-09-01 00:00:00
abstract:OBJECTIVES:The aims of this study were to gain some insight with regard to the safety of the coelocentesis procedure and, to determine pH, pCO2, and base excess status of the extracoelomic fluid 40 days after fertilization. METHODS:Twenty-eight timed-mated baboons from the breeding colony of the Biological Resource La...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020850
更新日期:1998-07-01 00:00:00
abstract::Congenital cardiac diverticula are transmural localized protrusions within the free wall of the ventricles. Right ventricular diverticula are rarely diagnosed during the fetal period, and due to their rarity, their natural history remains unclear. We present a case of prenatal diagnosis of right ventricular diverticul...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000196815
更新日期:2009-01-01 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: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:OBJECTIVE:To assess the current problem of alloimmunization in a tertiary referral center in Croatia. The results obtained were compared to data published worldwide. METHODS:Retrospective case analysis included women with Rhesus (Rh) alloimmunization treated in our department from January 1997 to January 2003. Data of...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086819
更新日期:2005-09-01 00:00:00
abstract::The possible etiologic roles of infection and bed rest are discussed in connection with a case of maternal homozygous Leiden mutation leading to prematurity, maternal deep-vein thrombosis and neonatal intracranial hemorrhage in a heterozygous premature baby. Maternal bacterial infection and bed rest may trigger deep-v...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000076711
更新日期:2004-05-01 00:00:00
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...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000207450
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the neurodevelopmental outcome of infants with high-risk fetal lung lesions defined as (1) requiring fetal intervention and/or ex utero intrapartum therapy (EXIT), or (2) acute respiratory decompensation postnatally necessitating emergent resection within 48 h of life. METHODS:We reviewed the med...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336228
更新日期:2012-01-01 00:00:00
abstract::We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from thei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020831
更新日期:1998-05-01 00:00:00
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::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: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 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:BACKGROUND:Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders, characterized by a defect in the synthesis of collagen. The syndrome is subdivided into different clinical subtypes, the most hazardous of which is type IV, the vascular type. It can manifest itself in various complications such ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000109218
更新日期:2008-01-01 00:00:00
abstract::Electronic fetal monitoring (EFM) is a poor predictor of outcomes attributable to delivery problems. Contextualizing EFM by adding maternal, obstetrical, and fetal risk-related information to create an index called the Fetal Reserve Index (FRI) improves the predictive capacity and facilitates the timing of interventio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000494617
更新日期:2019-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to describe the association between fetal echogenic bowel (FEB) diagnosed during the second trimester and adverse perinatal outcomes in an Australian antenatal population. METHODS:A retrospective analysis of ultrasound scans was performed between March 1, 2004 and March 1, 2009 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336123
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:Forty percent of Down syndrome (DS) fetuses have congenital heart defects (CHD). An abnormal angiogenic environment has been described in euploid fetuses with CHD. However, the underlying pathophysiologic pathway that contributes to CHD in DS remains unknown. The objective was to compare the expression of ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000441356
更新日期:2016-01-01 00:00:00
abstract::We report a rare case of fetal intraventricular bleeding possibly due to maternal vitamin K deficiency. A 20-year-old woman was admitted to our hospital due to impending premature delivery and loss of dietary intake at 28 weeks of gestation. Her blood examination showed metabolic alkalosis, prolonged prothrombin time,...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000163078
更新日期:2008-01-01 00:00:00
abstract::Rapid fluorescence in situ hybridization (FISH) performed on 1,788 amniocenteses, using Aneuvision (Vysis) probes for chromosomes 13, 18, 21, X, and Y, over several years, yielded 115 cases with percentages of aneuploidy between 4 and 100%. All cases above 60% were confirmed to be positive by chromosome analysis. Fift...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000089310
更新日期:2006-01-01 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:BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE:A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095837
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Fetal surgery for myelomeningocele (MMC) results in better outcomes compared to postnatal treatment. However, risks are present. We describe our experience with intraoperative fetal echocardiography during repair of MMC and report on the management of serious cardiovascular events. MATERIAL AND METHODS:Th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000364863
更新日期:2015-01-01 00:00:00
abstract::The factors controlling the recruitment of inflammatory cells and the activation of the cytokine cascade in low-birth-weight premature infants have been implicated in the sequence of multiorgan inflammatory diseases, including the chronic lung disease of prematurity, bronchopulmonary dysplasia. This article describes ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053900
更新日期:2001-05-01 00:00:00
abstract::Bronchopulmonary sequestration with associated nonimmune hydrops has been previously reported with generally poor prognosis for the neonate. We report a case of bronchopulmonary sequestration and associated pleural effusion successfully managed with a transthoracic catheter placement. The embryology and clinical patho...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263532
更新日期:1990-01-01 00:00:00