Abstract:
:From both presentations, it is clear that understanding the APO associated with placental dysfunction represents one of the greatest challenges in the field of prenatal screening, diagnosis, and therapy. Their clinical impact on the health of the mother and child was well recognized by the debaters, and both have agreed that there is a paucity of knowledge in the etiophysiopathology of placental dysfunction and the associated clinical phenotypes. They also agreed that this marked limitation in our understanding is a significant problem when designing a research protocol, and both stressed the importance of proper study designs. When focusing on the specific topics of the debate, they showed different opinions about the role of genomics in the search for relevant answers. Leslie Myatt pointed out that the genome does not define the cellular phenotype, and although the proteome itself does not define phenotype, it is much closer to it than the genome. Conversely, Rossa Chiu suggested that genomic approaches offer a better chance of achieving the answers than by proteomics alone. Actually, she hypothesized that through genomic approaches, or rather through systems biology, that is, including genomics, epigenomics, transcriptomics, and proteomics, there would be a better chance of obtaining the best answers. She also raised the possibility of the potential use of cell-free fetal nucleic acids in maternal plasma, which in turn are mainly of placental origin. Finally, both debaters and the audience agreed that there was not an exclusive proteomic or genomic 'solution', but that we need a larger spectrum of research strategies to include both proteomics and genomics and other systems biology approaches, combined with detailed and standardized clinical, laboratory, and epidemiological criteria in appropriately designed studies in order to start filling the significant gaps in our knowledge about this highly complex area of placental mediated adverse pregnancy outcomes.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Chiu RW,Myatt L,Otaño Ldoi
10.1002/pd.4533subject
Has Abstractpub_date
2015-01-01 00:00:00pages
15-8issue
1eissn
0197-3851issn
1097-0223journal_volume
35pub_type
杂志文章abstract::A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100310
更新日期:1990-03-01 00:00:00
abstract::We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.452
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVE:To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot. METHODS:Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS:Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5077
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract::Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of flu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141104
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVE:To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11-13 weeks' gestation in screening for preeclampsia (PE). METHODS:Serum PP13, PAPP-A and uterine artery pulsatility index (PI) were determined in a case-control study of 208 cases that developed PE including 48 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2375
更新日期:2009-12-01 00:00:00
abstract::Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-06-01 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:OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1254
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVE:Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2599
更新日期:2010-10-01 00:00:00
abstract::We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.143
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.817
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4200
更新日期:2013-11-01 00:00:00
abstract::Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcificat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199811)18:11<1186::aid-pd4
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5385
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract::We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199811)18:11<1131::aid-pd4
更新日期:1998-11-01 00:00:00
abstract::Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding...
journal_title:Prenatal diagnosis
pub_type: 信件
doi:10.1002/pd.5702
更新日期:2020-12-01 00:00:00
abstract::Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.c
更新日期:2000-09-01 00:00:00
abstract::Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060303
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3836
更新日期:2012-05-01 00:00:00
abstract::Levels of beta-core fragment and total oestriol in second-trimester maternal urine samples were measured in 32 Down syndrome pregnancies and 206 control pregnancies. Beta-core fragment and total oestriol values were corrected for the urinary creatinine level and expressed as multiples of the control medians (MOM). In ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199712)17:12<1135::aid-pd2
更新日期:1997-12-01 00:00:00
abstract::A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1997-06-01 00:00:00
abstract::Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.108
更新日期:2001-07-01 00:00:00
abstract::Based on 9350 pregnant Japanese women who were screened by serum triple-marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r = 0.98) between the predicted risks and the preva...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract::A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120706
更新日期:1992-07-01 00:00:00
abstract:OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5901
更新日期:2021-01-12 00:00:00
abstract::In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110820
更新日期:1991-08-01 00:00:00
abstract::Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.689
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5039
更新日期:2017-05-01 00:00:00