Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis.

abstract：OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

journal_title：Prenatal diagnosis

authors： Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

更新日期：2010-08-01 00:00:00

abstract：:Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We pr...

journal_title：Prenatal diagnosis

authors： Chen M,Lam YH,Lin CL,Chan KW,Hui PW,Tang MH,Lee CP,Khong PL

更新日期：2002-12-01 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

authors： Navon R,Sandbank U,Frisch A,Baram D,Adam A

更新日期：1986-05-01 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

authors： Yazdi B,Riefler P,Fischmüller K,Sonek J,Hoopmann M,Kagan KO

更新日期：2013-12-01 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

authors： Zhong XY,Holzgreve W,Hahn S

更新日期：2006-09-01 00:00:00

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_title：Prenatal diagnosis

authors： Winsor EJ,Van Allen MI

更新日期：1989-12-01 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

authors： Chevy F,Humbert L,Wolf C

更新日期：2005-11-01 00:00:00

abstract：OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

journal_title：Prenatal diagnosis

authors： Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

更新日期：2021-01-18 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：:Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...

journal_title：Prenatal diagnosis

authors： Wisser J,Hebisch G,Froster U,Zerres K,Stallmach T,Leumann E,Schinzel A,Huch A

更新日期：1995-09-01 00:00:00

abstract：:Recent reports suggest an increased incidence of chromosomal abnormalities in pregnancies with amniotic fluid-cell culture failure. We retrospectively reviewed the cytogenetic results of 14,165 amniotic fluid samples processed in our laboratory from 1987 to 1996. Ninety-eight per cent of the samples were obtained befo...

journal_title：Prenatal diagnosis

authors： Lam YH,Tang MH,Sin SY,Ghosh A

更新日期：1998-04-01 00:00:00

abstract：:Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...

journal_title：Prenatal diagnosis

authors： Silverstein S,Lerer I,Sagi M,Frumkin A,Ben-Neriah Z,Abeliovich D

更新日期：2002-08-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...

journal_title：Prenatal diagnosis

authors： Okuda T,Kinoshita Y,Tamura T,Kato C,Kojima H,Watanabe A,Honjo H

更新日期：2004-11-01 00:00:00

abstract：OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...

journal_title：Prenatal diagnosis

authors： Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

更新日期：2013-05-01 00:00:00

abstract：:Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either of these mutations exis...

journal_title：Prenatal diagnosis

authors： Rafiqul Islam M,Gallegos Arreola MP,Wong P,Tomatsu S,Corona JS,Sly WS

更新日期：1998-08-01 00:00:00

abstract：OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...

journal_title：Prenatal diagnosis

authors： Miner D,Rajkovic A

更新日期：2003-05-01 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：:Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...

journal_title：Prenatal diagnosis

authors： Origone P,Bonioli E,Panucci E,Costabel S,Ajmar F,Coviello DA

更新日期：2000-09-01 00:00:00

abstract：:There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...

journal_title：Prenatal diagnosis

authors： Nicolini U,Spelzini F

更新日期：2001-11-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...

journal_title：Prenatal diagnosis

authors： Khoshnood B,Wall S,Pryde P,Lee KS

更新日期：2004-02-01 00:00:00

abstract：:Reversed end-diastolic umbilical artery velocities and a reduced chorionic sac were first seen at 10 weeks in a pregnancy subsequently showing a normal male karyotype on chorionic villi. Four weeks later Doppler studies demonstrated normal umbilical artery waveforms. At 20 weeks, ultrasound examination of the fetus re...

journal_title：Prenatal diagnosis

authors： Borrell A,Costa D,Martinez JM,Farré MT,Palacio M,Mortera C,Fortuny A

更新日期：1998-10-01 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

authors： Dumez Y,Dommergues M,Gubler MC,Bunduki V,Narcy F,LeMerrer M,Mandelbrot L,Berkowitz R

更新日期：1994-02-01 00:00:00

abstract：:Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...

journal_title：Prenatal diagnosis

authors： Sjögren B,Uddenberg N

更新日期：1988-05-01 00:00:00

abstract：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...

journal_title：Prenatal diagnosis

authors： Done E,Gucciardo L,Van Mieghem T,Devriendt K,Allegaert K,Brady P,Devlieger R,De Catte L,Lewi L,Deprest J

更新日期：2017-09-01 00:00:00

abstract：:Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...

journal_title：Prenatal diagnosis

authors： Jauniaux E,Donner C,Thomas C,Francotte J,Rodesch F,Avni FE

更新日期：1988-10-01 00:00:00

abstract：:Variable results have been reported using urine beta-core fragment as a marker for fetal Down syndrome. Initial studies by Cuckle et al. (1994) and Canick et al. (1995) indicated that beta-core fragment was an outstanding marker, detecting >80 per cent of Down syndrome cases. Since these reports, widely varying result...

journal_title：Prenatal diagnosis

authors： Cole LA,Rinne KM,Mahajan SM,Oz UA,Shahabi S,Mahoney MJ,Bahado-Singh RO

更新日期：1999-04-01 00:00:00

abstract：BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...

journal_title：Prenatal diagnosis

authors： Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S

更新日期：2008-12-01 00:00:00

abstract：:An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...

journal_title：Prenatal diagnosis

authors： Carles D,Maugey-Laulom B,Habboud H,Alberti EM,Weichhold W,Léger F

更新日期：1995-08-01 00:00:00