Abstract:
:An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Winsor EJ,Van Allen MIdoi
10.1002/pd.1970091205subject
Has Abstractpub_date
1989-12-01 00:00:00pages
851-5issue
12eissn
0197-3851issn
1097-0223journal_volume
9pub_type
杂志文章abstract:OBJECTIVE:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2771
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVE:Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy. METHODS:Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indicat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2410
更新日期:2010-01-01 00:00:00
abstract::We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alpha-fetoprotein levels were normal. Extreme caution in evaluating this situation is stressed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100607
更新日期:1990-06-01 00:00:00
abstract::A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompte...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1519
更新日期:2006-10-01 00:00:00
abstract::Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2779
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:Intact atrial septum or highly restrictive inter-atrial communication (I/HRAS) combined with either severe aortic stenosis (SAS) or hypoplastic left heart syndrome (HLHS), respectively, is associated with adverse outcome. This study focusses on changes in alveolo-septal lung parenchyma due to increased left a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4559
更新日期:2015-05-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 00:00:00
abstract::Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050308
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4311
更新日期:2014-04-01 00:00:00
abstract::Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970101005
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVES:The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS:During a 3-year study period, 245 fetuses r...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4472
更新日期:2014-12-01 00:00:00
abstract::A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involv...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140210
更新日期:1994-02-01 00:00:00
abstract::Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.384
更新日期:2002-08-01 00:00:00
abstract::This prospective study investigates the relationship between insulin-dependent diabetes and maternal serum levels of alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG). It also examines the potential impact on screening for Down syndrome. The population-based cohort included 2...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140112
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.429
更新日期:2002-10-01 00:00:00
abstract::Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110510
更新日期:1991-05-01 00:00:00
abstract:OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1501
更新日期:2006-09-01 00:00:00
abstract::Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5505
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1841
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5410
更新日期:2019-01-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.c
更新日期:2000-07-01 00:00:00
abstract::This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200102)21:2<81::aid-pd1>3.0.co;2
更新日期:2001-02-01 00:00:00
abstract::A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970110306
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVES:Hysterotomy scar disruption, ranging from myometrial thinning to complete dehiscence, is a well-established complication of open-hysterotomy fetal myelomeningocele (MMC) repair. This study sought to (a) determine the feasibility of postoperative magnetic resonance imaging (MRI) in detecting signs of hysterot...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5565
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.752
更新日期:2003-12-30 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4205
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the contribution of uterine (UtA) and umbilical arteries (UA) Doppler examination at 28 weeks to predict adverse pregnancy outcomes in women who had increased resistance in UtA in the early second trimester. METHODS:Women with UtA mean pulsatility index (PI) above...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4542
更新日期:2015-03-01 00:00:00
abstract:OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4113
更新日期:2013-08-01 00:00:00