Prenatal diagnosis of distal arthrogryposis type I by ultrasonography.

abstract：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ

更新日期：2013-03-01 00:00:00

abstract：:In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews;...

journal_title：Prenatal diagnosis

authors：

更新日期：2007-11-01 00:00:00

abstract：:Activity levels of total and placental alkaline phosphatase (AP) were determined in maternal serum and neutrophils of normal and Down syndrome pregnancies. The placental iso-enzyme (PAP) was identified by its relative stability to urea and heat. Significant increase in the activity of all iso-enzymes across gestationa...

journal_title：Prenatal diagnosis

authors： Peleg L,Ries L,Getslev V,Lusky A,Chaki R,Lipitz S,Barkai G

更新日期：1999-03-01 00:00:00

abstract：:The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...

journal_title：Prenatal diagnosis

authors： Denomme GA,Akoury H,Sermer M,Kelton JG

更新日期：1999-05-01 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

authors： Diguisto C,Le Gouge A,Piver E,Giraudeau B,Perrotin F

更新日期：2013-11-01 00:00:00

abstract：OBJECTIVES:The purpose of this study was to demonstrate the normal perimeter and area of the three orthogonal planes (axial, sagittal and coronal) of the fetal Sylvian fissure along pregnancy using 3-dimensional (3D) ultrasound. METHODS:Ultrasound volumes of fetal head were acquired prospectively in 55 fetuses between...

journal_title：Prenatal diagnosis

authors： Gindes L,Malach S,Weisz B,Achiron R,Leibovitz Z,Weissmann-Brenner A

更新日期：2015-11-01 00:00:00

abstract：OBJECTIVE:To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD:A nested case-control study was conduc...

journal_title：Prenatal diagnosis

authors： Thurik FF,Lamain-de Ruiter M,Javadi A,Kwee A,Woortmeijer H,Page-Christiaens GC,Franx A,van der Schoot CE,Koster MP

更新日期：2016-12-01 00:00:00

abstract：:Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...

journal_title：Prenatal diagnosis

authors： Warner TG,Turner MW,Toone JR,Applegarth D

更新日期：1986-11-01 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

authors： Skirton H,Patch C

更新日期：2013-06-01 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

authors： Barel O,Maymon R,Barak U,Smorgick N,Tovbin J,Vaknin Z

更新日期：2014-12-01 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

authors： Osborn AJ,Baud D,Macarthur AJ,Propst EJ,Forte V,Blaser SM,Windrim R,Seaward G,Keunen J,Shah P,Ryan G,Campisi P

更新日期：2013-11-01 00:00:00

abstract：OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...

journal_title：Prenatal diagnosis

authors： Doro GF,Senra JC,Rodrigues AS,Miyadahira S,Ribeiro RL,Francisco RPV,Bernardes LS

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:This study aimed to determine the diagnostic application of multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for targeted detection of common chromosomal aneuploidies (i.e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice. METHODS:In this evaluat...

journal_title：Prenatal diagnosis

authors： Kooper AJ,Faas BH,Kater-Baats E,Feuth T,Janssen JC,van der Burgt I,Lotgering FK,van Kessel AG,Smits AP

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

journal_title：Prenatal diagnosis

authors： Parchem JG,Sparks TN,Gosnell K,Norton ME

更新日期：2018-01-01 00:00:00

abstract：:A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...

journal_title：Prenatal diagnosis

authors： Ning Y,Laundon CH,Schröck E,Buchanan P,Ried T

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...

journal_title：Prenatal diagnosis

authors： Grobman WA,Wang E,Shulman LP

更新日期：2005-03-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to determine the maternal serum concentration of insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks' gestation in pregnancies that subsequently develop pre-eclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI). METHODS:M...

journal_title：Prenatal diagnosis

authors： Sifakis S,Akolekar R,Kappou D,Mantas N,Nicolaides KH

更新日期：2011-02-01 00:00:00

abstract：:In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...

journal_title：Prenatal diagnosis

authors： Spencer K,Crossley JA,Green K,Worthington DJ,Brownbill K,Aitken DA

更新日期：1999-12-01 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

authors： Deprest J,Van Ranst M,Lannoo L,Bredaki E,Ryan G,David A,Richter J,Van Mieghem T

更新日期：2020-12-01 00:00:00

abstract：:Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...

journal_title：Prenatal diagnosis

authors： Shook LL,Kislal S,Edlow AG

更新日期：2020-08-01 00:00:00

abstract：OBJECTIVE:We aimed to study the role of placental pathology in the prediction of preeclampsia (PE) recurrence. METHODS:The medical records and pathological placental reports of all women diagnosed with PE, during 2008-2015, were reviewed. The study population was divided according to the outcome of their subsequent pr...

journal_title：Prenatal diagnosis

authors： Weiner E,Mizrachi Y,Grinstein E,Feldstein O,Rymer-Haskel N,Juravel E,Schreiber L,Bar J,Kovo M

更新日期：2016-10-01 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

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 00:00:00

abstract：:An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...

journal_title：Prenatal diagnosis

authors： Kadir RA,Hastings R,Economides DL

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVES:To develop a reliable and specific technique for rapid prenatal diagnosis of Down syndrome. METHODS:High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compare...

journal_title：Prenatal diagnosis

authors： Hu Y,Zheng M,Xu Z,Wang X,Cui H

更新日期：2004-09-01 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

authors： Sharony R

更新日期：1997-06-01 00:00:00

abstract：:We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...

journal_title：Prenatal diagnosis

authors： Stoll C,Ehret-Mentre MC,Treisser A,Tranchant C

更新日期：1991-01-01 00:00:00

abstract：:Twins concordant for elevated alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) and discordant for neural tube defect (NTD) and sex are reported. A literature review reveals instances of termination of twin pregnancies with one normal and one abnormal fetus, partly based on concordant high AFP and positive AChE ...

journal_title：Prenatal diagnosis

authors： Johnson VP,Vidgoff J,Wilson N,Madison D

更新日期：1989-12-01 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

authors： Goltz D,Lunkenheimer JM,Abedini M,Herberg U,Berg C,Gembruch U,Fischer HP

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 00:00:00