abstract：:Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...

journal_title：Prenatal diagnosis

authors： Carvalho F,Sousa M,Fernandes S,Silva J,Saraiva MJ,Barros A

更新日期：2001-12-01 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：: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

authors： Wolstenholme J,White I,Sturgiss S,Carter J,Plant N,Goodship JA

更新日期：2001-10-01 00:00:00

abstract：:Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...

journal_title：Prenatal diagnosis

authors： Salafsky IS,MacGregor SN,Claussen U,von Eggeling F

更新日期：2001-10-01 00:00:00

abstract：:Problems can arise in prenatal screening for Down syndrome when tests are performed in the first and second trimester and some women who have a negative first trimester test have a second trimester serum test. The second test result does not usually take account of the previous one being negative. Even if it does, it ...

journal_title：Prenatal diagnosis

authors： Hackshaw AK,Wald NJ

更新日期：2001-09-01 00:00:00

abstract：:In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...

journal_title：Prenatal diagnosis

authors： Larsen SO,Hansen J,Pedersen BN

更新日期：2001-08-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 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

authors： Ryall RG,Callen D,Cocciolone R,Duvnjak A,Esca R,Frantzis N,Gjerde EM,Haan EA,Hocking T,Sutherland G,Thomas DW,Webb F

更新日期：2001-07-01 00:00:00

abstract：:Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...

journal_title：Prenatal diagnosis

authors： Amiel J,Gigarel N,Benacki A,Benit P,Valnot I,Parfait B,Von Kleist-Retzow JC,Raclin V,Hadj-Rabia S,Dumez Y,Rustin P,Bonnefont JP,Munnich A,Rötig A

更新日期：2001-07-01 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：:Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and au...

journal_title：Prenatal diagnosis

authors： Driggers RW,Bernstein H,Lantz M,Stetten G,Escallon CS,Perlman E,Blakemore KJ

更新日期：2001-05-01 00:00:00

abstract：:Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...

journal_title：Prenatal diagnosis

authors： Tepperberg J,Pettenati MJ,Rao PN,Lese CM,Rita D,Wyandt H,Gersen S,White B,Schoonmaker MM

更新日期：2001-04-01 00:00:00

abstract：:The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...

journal_title：Prenatal diagnosis

authors： Chilaka VN,Konje JC,Stewart CR,Narayan H,Taylor DJ

更新日期：2001-03-01 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：:This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...

journal_title：Prenatal diagnosis

authors： Kallinen J,Heinonen S,Ryynänen M,Pulkkinen L,Mannermaa A

更新日期：2001-02-01 00:00:00

abstract：:Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...

journal_title：Prenatal diagnosis

authors： Maymon R,Schneider D,Hegesh J,Herman A,Weinraub Z,Achiron R

更新日期：2001-02-01 00:00:00

abstract：:Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...

journal_title：Prenatal diagnosis

authors： Benn PA,Ying J,Beazoglou T,Egan JF

更新日期：2001-01-01 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 Books, R...

journal_title：Prenatal diagnosis

authors：

更新日期：2001-01-01 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 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：:Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...

journal_title：Prenatal diagnosis

authors： Malinger G,Lerman-Sagie T,Achiron R,Lipitz S

更新日期：2000-11-01 00:00:00

abstract：:Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...

journal_title：Prenatal diagnosis

authors： Slater HR,Ralph A,Daniel A,Worthington S,Roberts C

更新日期：2000-11-01 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：: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：:Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin...

journal_title：Prenatal diagnosis

authors： Osborn P,Gross TL,Shah JJ,Ma L

更新日期：2000-08-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

journal_title：Prenatal diagnosis

authors： Langford K,Hodgson S,Seller M,Maxwell D

更新日期：2000-08-01 00:00:00

abstract：:Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...

journal_title：Prenatal diagnosis

authors： Ioulianos A,Wells D,Harper JC,Delhanty JD

更新日期：2000-07-01 00:00:00

abstract：:A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 00:00:00

abstract：:Iron loaded transferrin (holotransferrin) was used for enrichment of fetal cells from peripheral blood of pregnant women. Cord blood samples were used to evaluate enrichment efficacy of single and double MACS separations. Blood samples were obtained from 10 pregnant women prior to chorion villus sampling (CVS). Erythr...

journal_title：Prenatal diagnosis

authors： Serlachius M,Von Koskull H,Wessman M,Schröder J

更新日期：2000-05-01 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：: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：:This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...

journal_title：Prenatal diagnosis

authors： Thakur (Mahadik) C,Vaz F,Banerjee M,Kapadia C,Natrajan PG,Yagnik H,Gangal S

更新日期：2000-03-01 00:00:00

abstract：:Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...

journal_title：Prenatal diagnosis

authors： Wijnberger LD,van der Schouw YT,Christiaens GC

更新日期：2000-03-01 00:00:00

abstract：:In the first trimester of pregnancy the biochemical markers free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these biochemical ma...

journal_title：Prenatal diagnosis

authors： Spencer K

更新日期：2000-02-01 00:00:00

abstract：:Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dice...

journal_title：Prenatal diagnosis

authors： Lohmann L,Chelloug N,Rosales B,Guérin C,Lyonnet S,Jonveaux P,Simon-Bouy B

更新日期：2000-02-01 00:00:00

abstract：:Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...

journal_title：Prenatal diagnosis

authors： Ozcan T,Burki N,Parkash V,Huang X,Pejovic T,Mahoney MJ,Ward DC

更新日期：2000-01-01 00:00:00

abstract：:Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...

journal_title：Prenatal diagnosis

authors： Sütterlin M,Sleiman PA,Onadim Z,Delhanty J

更新日期：1999-12-01 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：:The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...

journal_title：Prenatal diagnosis

authors： Hsu TY,Ou CY,Hsu JJ,Kung FT,Chang SY,Soong YK

更新日期：1999-11-01 00:00:00

abstract：:Superoxide dismutase (SOD: EC1.15.1.1) has been shown to increase in Down syndrome (DS) subjects and in amniotic fluid from DS affected pregnancies. In order to verify a possible increase of maternal serum SOD in DS affected pregnancies and its possible contribution in prenatal screening, the serum enzyme activity was...

journal_title：Prenatal diagnosis

authors： Ognibene A,Ciuti R,Tozzi P,Messeri G

更新日期：1999-11-01 00:00:00