First trimester screening for Down syndrome in rhesus negative women.

abstract：OBJECTIVE:Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS:Participants were a subset of women participating in the fetal exome study, w...

journal_title：Prenatal diagnosis

authors： Harris S,Gilmore K,Hardisty E,Lyerly AD,Vora NL

更新日期：2018-11-01 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：: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：OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...

journal_title：Prenatal diagnosis

authors： Caradeux J,Serra R,Nien JK,Pérez-Sepulveda A,Schepeler M,Guerra F,Gutiérrez J,Martínez J,Cabrera C,Figueroa-Diesel H,Soothill P,Illanes SE

更新日期：2013-08-01 00:00:00

abstract：OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...

journal_title：Prenatal diagnosis

authors： Hoffman JD,Bianchi DW,Sullivan LM,Mackinnon BL,Collins J,Malone FD,Porter TF,Nyberg DA,Comstock CH,Bukowski R,Berkowitz RL,Gross SJ,Dugoff L,Craigo SD,Timor-Tritsch IE,Carr SR,Wolfe HM,D'Alton ME

更新日期：2008-12-01 00:00:00

abstract：:Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...

journal_title：Prenatal diagnosis

authors： Laundon CH,Spencer K,Macri JN,Anderson RW,Buchanan PD

更新日期：1996-09-01 00:00:00

abstract：OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...

journal_title：Prenatal diagnosis

authors： Trento LU,Pruetz JD,Chang RK,Detterich J,Sklansky MS

更新日期：2012-12-01 00:00:00

abstract：:Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...

journal_title：Prenatal diagnosis

authors： Legras B,Durou MR,Ruelland A,Gallou G,Jezequel C,Cloarec L

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. METHODS:The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultraso...

journal_title：Prenatal diagnosis

authors： Jakobson-Setton A,Weissmann-Brenner A,Achiron R,Kuint J,Gindes L

更新日期：2015-07-01 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：: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：:Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of flu...

journal_title：Prenatal diagnosis

authors： Reeser SL,Donnenfeld AE,Miller RC,Sellinger BS,Emanuel BS,Driscoll DA

更新日期：1994-11-01 00:00:00

abstract：:A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompte...

journal_title：Prenatal diagnosis

authors： Waters JJ,Walsh S,Levett LJ,Liddle S,Akinfenwa Y

更新日期：2006-10-01 00:00:00

abstract：:Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...

journal_title：Prenatal diagnosis

authors： Gucciardo L,Uyttebroek A,De Wever I,Renard M,Claus F,Devlieger R,Lewi L,De Catte L,Deprest J

更新日期：2011-07-01 00:00:00

abstract：:We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alpha-fetoprotein levels were normal. Extreme caution in evaluating this situation is stressed. ...

journal_title：Prenatal diagnosis

authors： Baccichetti C,Lenzini E,Suma V,Benini F,Marini A

更新日期：1990-06-01 00:00:00

abstract：:In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY,46,...

journal_title：Prenatal diagnosis

authors： Ville Y,Borghi E,Pons JC,Lelorc'h M

更新日期：1992-02-01 00:00:00

abstract：OBJECTIVE:To assess the frequency of cytotrophoblastic cells in endocervical samples collected by lavage at early stages of gestation using a specific anti-HLA-G McAb (G233). From a set of four selected samples, cells identified by immunostaining were collected by laser microdissection and then tested by quantitative f...

journal_title：Prenatal diagnosis

authors： Bulmer JN,Cioni R,Bussani C,Cirigliano V,Sole F,Costa C,Garcia P,Adinolfi M

更新日期：2003-01-01 00:00:00

abstract：:Intra-hepatic abnormalities of the fetal umbilical venous system are poorly documented and clinically not well understood. A case of routine ultrasound examination at 23 weeks' gestation demonstrating foci of hepatic hyperechogenicity and cardiomegaly is presented. Colour Doppler detected absence of flow in the ductus...

journal_title：Prenatal diagnosis

authors： Cohen SB,Lipitz S,Mashiach S,Hegesh J,Achiron R

更新日期：1997-10-01 00:00:00

abstract：OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...

journal_title：Prenatal diagnosis

authors： Kauppinen T,Kantomaa T,Tekay A,Mäkikallio K

更新日期：2016-07-01 00:00:00

abstract：OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...

journal_title：Prenatal diagnosis

authors： Roee B,Adi W,Michael B,Igal W,Karina KH,Liat BS,Gustavo M

更新日期：2020-03-01 00:00:00

abstract：OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...

journal_title：Prenatal diagnosis

authors： Cochrane L,Ainscough M,Alfirevic Z

更新日期：2003-12-30 00:00:00

abstract：OBJECTIVE:To determine the frequency of diagnostic indications among women seeking to terminate pregnancies for reasons of fetal abnormality, spontaneous fetal demise, or a genetic disorder in a private outpatient clinic specializing in late outpatient abortion procedures. METHOD:A total of 1005 women requested termin...

journal_title：Prenatal diagnosis

authors： Hern WM

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVES:To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS:We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-...

journal_title：Prenatal diagnosis

authors： Mahieu-Caputo D,Salomon LJ,Le Bidois J,Fermont L,Brunhes A,Jouvet P,Dumez Y,Dommergues M

更新日期：2003-08-01 00:00:00

abstract：:Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...

journal_title：Prenatal diagnosis

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 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：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 00:00:00

abstract：:Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...

journal_title：Prenatal diagnosis

authors： Silver RK,MacGregor SN,Hobart ED

更新日期：1992-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...

journal_title：Prenatal diagnosis

authors： Nassr AA,Koh CK,Shamshirsaz AA,Espinoza J,Sangi-Haghpeykar H,Sharhan D,Welty S,Angelo J,Roth D,Belfort MA,Braun M,Ruano R

更新日期：2016-12-01 00:00:00

abstract：:We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...

journal_title：Prenatal diagnosis

authors： Giers G,Hoch J,Bauer H,Bald R,Kiefel V,Kroll H,Hansmann M,Hanfland P,Mueller-Eckhardt C,Scharf RE

更新日期：1996-06-01 00:00:00

abstract：:Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...

journal_title：Prenatal diagnosis

authors： Jahoda MG,Brandenburg H,Reuss A,Cohen-Overbeek TE,Wladimiroff JW,Los FJ,Sachs ES

更新日期：1991-08-01 00:00:00