Aicardi syndrome: prenatal sonographic findings. A report of two cases.

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：OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...

journal_title：Prenatal diagnosis

authors： Kotini A,Avgidou K,Koutlaki N,Sigalas J,Anninos P,Anastasiadis P

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...

journal_title：Prenatal diagnosis

authors： Bilagi A,Burke DL,Riley RD,Mills I,Kilby MD,Katie Morris R

更新日期：2017-07-01 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

authors： Lam CW,Sin SY,Lau ET,Lam YY,Poon P,Tong SF

更新日期：2000-09-01 00:00:00

abstract：:A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...

journal_title：Prenatal diagnosis

authors： Ashkenazy M,Lurie S,Ben-Itzhak I,Appelman Z,Caspi B

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

journal_title：Prenatal diagnosis

authors： Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...

journal_title：Prenatal diagnosis

authors： Zhang W,Lei T,Fu F,Deng Q,Li R,Wang D,Yang X,Li D,Liao C

更新日期：2020-09-30 00:00:00

abstract：OBJECTIVE:The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS:We developed the control-free noninvasive fetal chromosomal ...

journal_title：Prenatal diagnosis

authors： Sun K,Chan KC,Hudecova I,Chiu RW,Lo YM,Jiang P

更新日期：2017-04-01 00:00:00

abstract：:We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...

journal_title：Prenatal diagnosis

authors： Ohkuchi A,Shiraishi H,Minakami H,Eguchi Y,Izumi A,Sato I

更新日期：1999-10-01 00:00:00

abstract：OBJECTIVE:To evaluate decision analysis as a technique to facilitate women's decision-making about prenatal diagnosis for Down syndrome using measures of effective decision-making. DESIGN:Randomised controlled trial in a UK hospital's prenatal diagnosis clinic. INTERVENTION:Routine versus routine consultation structu...

journal_title：Prenatal diagnosis

authors： Bekker HL,Hewison J,Thornton JG

更新日期：2004-04-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD:A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our inst...

journal_title：Prenatal diagnosis

authors： Azzi C,Giaconia MB,Lacalm A,Massoud M,Gaucherand P,Guibaud L

更新日期：2014-04-01 00:00:00

abstract：:Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chor...

journal_title：Prenatal diagnosis

authors： Shackleton CH,Roitman E,Kratz L,Kelley R

更新日期：2001-03-01 00:00:00

abstract：:Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic vil...

journal_title：Prenatal diagnosis

authors： Stabile I,Warren R,Rodeck C,Grudzinskas JG

更新日期：1988-06-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 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：:The aim of the present study was to report the findings in 14 women with extremely high risk ('precious') pregnancies, 5 of whom had twins, who underwent elective third-trimester cytogenetic amniocentesis. There were no procedure-related complications, and all newborns weighed more than 2000 g and showed normal develo...

journal_title：Prenatal diagnosis

authors： Shalev J,Meizner I,Rabinerson D,Mashiach R,Peleg D,Orvieto R,Levi T,Ben-Rafael Z

更新日期：1999-08-01 00:00:00

abstract：OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....

journal_title：Prenatal diagnosis

authors： Donaghue C,Mann K,Docherty Z,Mazzaschi R,Fear C,Ogilvie C

更新日期：2010-02-01 00:00:00

abstract：:Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...

journal_title：Prenatal diagnosis

authors： Brock DJ,Bedgood D,Hayward C,Carbarns NJ,Gosden C

更新日期：1984-07-01 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

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate corpus callosum (CC) development by Magnetic Resonance Imaging (MRI) in late-onset intrauterine growth restricted (IUGR) fetuses compared to appropriate for gestational age and its association with neurobehavioral outcome. METHOD:One hundred and seventeen late-onset IUGR ...

journal_title：Prenatal diagnosis

authors： Egaña-Ugrinovic G,Sanz-Cortés M,Couve-Pérez C,Figueras F,Gratacós E

更新日期：2014-09-01 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：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00

abstract：:Progressively since 1982 and as part of a nationwide programme for the diagnosis and prevention of genetic diseases, maternal serum alpha-fetoprotein (MS-AFP) screening and ultrasound fetal monitoring has been implemented in all pregnant women in Cuba. In Havana City, 328,983 pregnant women underwent MS-AFP screening ...

journal_title：Prenatal diagnosis

authors： Rodríguez L,Sánchez R,Hernández J,Carrillo L,Oliva J,Heredero L

更新日期：1997-04-01 00:00:00

abstract：:Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in man...

journal_title：Prenatal diagnosis

authors： Carletti A,Colleoni GG,Perolo A,Simonazzi G,Ghi T,Rizzo N,Pilu G

更新日期：2009-04-01 00:00:00

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 00:00:00

abstract：:A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...

journal_title：Prenatal diagnosis

authors： Tsai YH

更新日期：2000-12-01 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

authors： Simovich MJ,Yatsenko SA,Kang SH,Cheung SW,Dudek ME,Pursley A,Ward PA,Patel A,Lupski JR

更新日期：2007-12-01 00:00:00

abstract：OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...

journal_title：Prenatal diagnosis

authors： Mackie FL,Baker BC,Beggs AD,Stodolna A,Morris RK,Kilby MD

更新日期：2019-07-01 00:00:00

abstract：:Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...

journal_title：Prenatal diagnosis

authors： Emiliani S,Merino EG,Van den Bergh M,Abramowicz M,Vassart G,Englert Y,Delneste D

更新日期：2000-12-01 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