Fetal ocular measurements by MRI.

abstract：OBJECTIVE:To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS:Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected...

journal_title：Prenatal diagnosis

authors： Nielsen JE,Koefoed P,Kjaergaard S,Jensen LN,Nørremølle A,Hasholt L

更新日期：2004-05-01 00:00:00

abstract：:Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic finding...

journal_title：Prenatal diagnosis

authors： Podobnik M,Ciglar S,Singer Z,Podobnik-Sarkanji S,Duic Z,Skalak D

更新日期：1997-02-01 00:00:00

abstract：:We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long ar...

journal_title：Prenatal diagnosis

authors： Caine A,Mason G,Daly HA,Ricketts SM

更新日期：1993-11-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...

journal_title：Prenatal diagnosis

authors： Mowery-Rushton PA,Stadler MP,Kochmar SJ,McPherson E,Surti U,Hogge WA

更新日期：1997-03-01 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：: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：:Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...

journal_title：Prenatal diagnosis

authors： Sagi M,Meiner V,Reshef N,Dagan J,Zlotogora J

更新日期：2001-06-01 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

authors： Steward CG,Newbury-Ecob RA,Hastings R,Smithson SF,Tsai-Goodman B,Quarrell OW,Kulik W,Wanders R,Pennock M,Williams M,Cresswell JL,Gonzalez IL,Brennan P

更新日期：2010-10-01 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

authors： Gray RG,Green A,Cole T,Davidson V,Giles M,Schutgens RB,Wanders RJ

更新日期：1995-05-01 00:00:00

abstract：:Seeking to optimize a novel method of isolating rare fetal erythroid cells in cultures from maternal blood, we have explored the effects of serum supplement on fetal and adult erythropoiesis. We used flow cytometry and sorting after labelling with antibodies to fetal haemoglobin (HbF) and adult haemoglobin (HbA). In a...

journal_title：Prenatal diagnosis

authors： Bohmer RM,Zhen D,Bianchi DW

更新日期：1999-07-01 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：:Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...

journal_title：Prenatal diagnosis

authors： Ray PF,Ao A,Taylor DM,Winston RM,Handyside AH

更新日期：1998-12-01 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

authors： Norgard M,Yankowitz J,Rhead W,Kanis AB,Hall BD

更新日期：1996-02-01 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：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：:We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. ...

journal_title：Prenatal diagnosis

authors： ten Berg K,van Oppen AC,Nikkels PG,Gittenberger-de Groot AC,van der Voet GB,Brilstra EH,Lindhout D

更新日期：2005-02-01 00:00:00

abstract：OBJECTIVE:This study aimed to examine the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening. METHODS:A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was condu...

journal_title：Prenatal diagnosis

authors： Reiff ES,Little SE,Dobson L,Wilkins-Haug L,Bromley B

更新日期：2016-03-01 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

authors： Dahl N,Wadelius C,Annerén G,Gustavson KH

更新日期：1992-07-01 00:00:00

abstract：:Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detec...

journal_title：Prenatal diagnosis

authors： Loeffler J,Utermann G,Witsch-Baumgartner M

更新日期：2002-09-01 00:00:00

abstract：:Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...

journal_title：Prenatal diagnosis

authors： Williamson R,Allison ME,Bentley TJ,Lim SM,Watson E,Chapple J,Adam S,Boulton M

更新日期：1989-10-01 00:00:00

abstract：:A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features. ...

journal_title：Prenatal diagnosis

authors： Nyberg RH,Karhu R,Karikoski R,Simola KO

更新日期：1994-07-01 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：: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：OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...

journal_title：Prenatal diagnosis

authors： Lee MJ,Roman AS,Lusskin S,Chen D,Dulay A,Funai EF,Monteagudo A

更新日期：2007-01-01 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：:Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...

journal_title：Prenatal diagnosis

authors： Chang HC,Jones OW

更新日期：1985-09-01 00:00:00

abstract：OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...

journal_title：Prenatal diagnosis

authors： Rossi A,De Biasio P,Scarso E,Gandolfo C,Pavanello M,Morana G,Venturini PL,Tortori-Donati P

更新日期：2006-01-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...

journal_title：Prenatal diagnosis

authors： Kubaski F,Brusius-Facchin AC,Mason RW,Patel P,Burin MG,Michelin-Tirelli K,Kessler RG,Bender F,Leistner-Segal S,Moreno CA,Cavalcanti DP,Giugliani R,Tomatsu S

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVE:We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' fu...

journal_title：Prenatal diagnosis

authors： Werner EF,Pastore LM,Karns LB,Ventura KA,Saller DN

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

journal_title：Prenatal diagnosis

authors： Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

更新日期：2018-12-01 00:00:00