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 case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p. A similar anomaly described in a postnatal patient suggests ring chromosome as a possible cause of PKS. Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Lloveras E,Canellas A,Cirigliano V,Català V,Cerdan C,Plaja Adoi
10.1159/000347049subject
Has Abstractpub_date
2013-01-01 00:00:00pages
172-5issue
3eissn
1015-3837issn
1421-9964pii
000347049journal_volume
34pub_type
杂志文章abstract::The process of monozygotic twinning in animals and humans is presented. In addition, congenital defects in monozygotic twins versus dizygotic twins and singletons is discussed. Overall, the rates of congenital anomalies are higher among whites as compared to blacks, males as compared to females, and multiples as compa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263545
更新日期:1990-01-01 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::Several isolated reports of fetal goiter treatment have shown limited generalizability of approaches and provide no real guidance for optimal timing, dosages, and treatment strategies. Graves' disease accounts for >60% of these cases. Maternal treatments of hyperthyroidism include antithyroid medications such as methi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000437367
更新日期:2016-01-01 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::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: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:OBJECTIVE:Multifetal pregnancy as a result of ovulation induction (OI) and assisted reproductive technologies (ART) correlate with Board certification in reproductive endocrinology and infertility (REI). DESIGN:Retrospective chart analysis of 304 patients referred to Wayne State University (WSU) and Thomas Jefferson U...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000068550
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Efficacy of flecainide acetate for the treatment of fetal supraventricular tachycardia with cardiac failure was reported. CASE:For a case in which maternal digoxin therapy failed, flecainide acetate (400 mg/day) is used from 27 weeks. Cardioversion with improved cardiac function occurred 6 days after treatm...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264498
更新日期:1997-11-01 00:00:00
abstract:OBJECTIVES:To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amnioti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000111592
更新日期:2008-01-01 00:00:00
abstract::Cystic adrenal masses are unusual in the fetus. The most common diagnosis for adrenal cyst is hemorrhage. We report 2 cases of cystic neuroblastoma diagnosed prenatally by ultrasound. In each case, diagnosis was confirmed in the neonatal period first by scintigraphy, then by histology. Differential diagnosis and manag...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263946
更新日期:1994-07-01 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: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::Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000468929
更新日期:2018-01-01 00:00:00
abstract:INTRODUCTION:Postoperative membrane separation is a complication of selective laser photocoagulation of communicating vessels (SLPCV) for the treatment of twin-twin transfusion syndrome (TTTS). OBJECTIVE:The aim of this work was to determine whether a quantitative grading system of membrane separation following SLPCV ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000504361
更新日期:2020-01-01 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::In view of the ever-increasing demand for human stem cells for transplantation, we initiated in vitro and in vivo studies of human fetal bone marrow stem/progenitor cells derived from lost pregnancies at 16-20 weeks. Utilizing non-human primates as models, we demonstrated that fetal tissue has distinctive biological a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000074252
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000451080
更新日期:2017-01-01 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::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:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 00:00:00
abstract::The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263821
更新日期:1993-05-01 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:BACKGROUND:Fetal growth may vary significantly in different congenital heart defects (CHDs). OBJECTIVES:To investigate prenatal growth of CHD fetuses and its correlation with classifications based upon expected oxygen delivery to the fetal brain or structural findings. METHODS:Seventy-nine euploid fetuses with isolat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000493938
更新日期:2020-01-01 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::A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264422
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Hemimegalencephaly (HMC) is a disorder associated with enlarged and dysplastic hamartomatous overgrowth of all or part of the one cerebral hemisphere that can be isolated or associated with other syndromes. In the normal development of the brain it is important to bear in mind that there are two main process...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000322012
更新日期:2011-01-01 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: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:Non-invasive prenatal diagnosis using circulating fetal trophoblast cells has been challenging due to lack of a reproducible trophoblast-specific antibody. We investigated the use of three trophoblast cell-specific antibodies, HLA-G, placenta growth factor, and neuroD2, for the isolation of trophoblast cells...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000097102
更新日期:2007-01-01 00:00:00
abstract::Twin anemia-polycythemia sequence (TAPS) is a rare condition which may occur either spontaneously in uncomplicated monochorionic twin pregnancies or may develop after laser treatment in twin-twin transfusion syndrome. TAPS is characterized by a large intertwin discordance in hemoglobin levels without discordance in am...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346413
更新日期:2013-01-01 00:00:00