Abstract:
OBJECTIVE:Complications in pregnancy are suggested to be the result of intrauterine conditions in the first trimester of pregnancy. Three-dimensional ultrasound volume measurements might give more information, compared with two-dimensional measurements. Commonly available methods for volume measurements are not suited for daily practice. This is a report of preliminary results of a promising, more practical semi-automated method for volume calculations with three-dimensional ultrasound. METHOD:Volume datasets of 16 objects (10.2-41.5 cm(3) ) were obtained. Euclidean shortening flow and Perona and Malik were used as image enhancement techniques. The image gradient was calculated. The points of interest were detected by the iso-intensity and the edge-detection technique. Volume measurements with Volume Computer-aided AnaLysis (VOCAL) are used as a reference. A volume dataset of a first trimester fetus was acquired to test this method in vivo. RESULTS:The mathematical calculations with iso-intensity (Perona and Malik: average= -1.57 cm(3) , SD=4.05; and Euclidean shortening flow: average= -1.38 cm(3) , SD=2.47) showed results comparable with the VOCAL method (average= +1.28 cm(3) , SD=2.07). We also succeeded in detecting all voxels in the whole contour of a 12-week fetus. CONCLUSION:Mathematical volume calculations are possible with the semi-automated method. We were able to apply this new method on a first trimester fetus. This new method is promising for future use in the daily practice.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Smeets NA,Dvinskikh NA,Winkens B,Oei SGdoi
10.1002/pd.3900subject
Has Abstractpub_date
2012-08-01 00:00:00pages
770-6issue
8eissn
0197-3851issn
1097-0223journal_volume
32pub_type
临床试验,杂志文章abstract::Iron loaded transferrin (holotransferrin) was used for enrichment of fetal cells from peripheral blood of pregnant women. Cord blood samples were used to evaluate enrichment efficacy of single and double MACS separations. Blood samples were obtained from 10 pregnant women prior to chorion villus sampling (CVS). Erythr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.577
更新日期:2003-04-01 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::Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140211
更新日期:1994-02-01 00:00:00
abstract::We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199602)16:2<173::AID-PD821
更新日期:1996-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150514
更新日期:1995-05-01 00:00:00
abstract::This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.316
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2556
更新日期:2010-08-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the levels of maternal serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) between pregnancies with fetal hemoglobin (Hb) Bart's disease and unaffected pregnancies. METHODS:Ninety-one pregnancies at risk for fetal Hb Bart's disease schedul...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4246
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4615
更新日期:2015-08-01 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:OBJECTIVE:To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS:One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echog...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.295
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS:From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3888
更新日期:2012-07-01 00:00:00
abstract:INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormalit...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1485
更新日期:2006-08-01 00:00:00
abstract::Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we de...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2023
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4659
更新日期:2015-10-01 00:00:00
abstract::Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-12-01 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::Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究,评审
doi:10.1002/pd.57
更新日期:2001-04-01 00:00:00
abstract:OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1036
更新日期:2005-02-01 00:00:00
abstract::Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050302
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVES:To explore the efficacy of contingent triple-screening for Down syndrome (DS), that is, performing triple-screening in pregnant women with DS risks between 1/270 and 1/1000 at routine double-screening, in a Mainland Chinese population. METHODS:Maternal serum concentrations of alpha fetoprotein (AFP), free-b...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2412
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS:Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All pati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5266
更新日期:2018-06-01 00:00:00
abstract::Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4094
更新日期:2013-06-01 00:00:00
abstract::Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199609)16:9<853::AID-PD945
更新日期:1996-09-01 00:00:00
abstract::Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4764
更新日期:2016-02-01 00:00:00