MicroRNA changes in maternal serum from pregnancies complicated by twin-twin transfusion syndrome: A discovery study.

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 relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direc...

journal_title：Prenatal diagnosis

authors： Diukman R,Zeigler M,Bach G

更新日期：1988-09-01 00:00:00

abstract：OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...

journal_title：Prenatal diagnosis

authors： Tsui NB,Wong BC,Leung TY,Lau TK,Chiu RW,Lo YM

更新日期：2009-11-01 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:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...

journal_title：Prenatal diagnosis

authors： Odibo AO,Najaf T,Vachharajani A,Warner B,Mathur A,Warner BW

更新日期：2010-06-01 00:00:00

abstract：:The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...

journal_title：Prenatal diagnosis

authors： Chuang L,Kuo PL,Yang HB,Chien CH,Chen PY,Chang CH,Chang FM

更新日期：2003-02-01 00:00:00

abstract：:A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...

journal_title：Prenatal diagnosis

authors： Adhvaryu SG,Peters-Brown T,Livingston E,Qumsiyeh MB

更新日期：1998-02-01 00:00:00

abstract：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：:An excess of structural anomalies is observed in twins compared to singletons. Approximately 1-2% of twin pregnancies may face the dilemma of expectant management versus selective termination following diagnosis of an anomaly affecting only one fetus. If the option of selective fetocide is considered, the main variabl...

journal_title：Prenatal diagnosis

authors： Rustico MA,Baietti MG,Coviello D,Orlandi E,Nicolini U

更新日期：2005-09-01 00:00:00

abstract：OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...

journal_title：Prenatal diagnosis

authors： Chmait RH,Chon AH,Schrager SM,Llanes A,Hamilton A,Vanderbilt DL

更新日期：2016-01-01 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：: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

abstract：BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ,Uldbjerg N,Vereecken A,Tørring N

更新日期：2008-12-01 00:00:00

abstract：:A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...

journal_title：Prenatal diagnosis

authors： Wald NJ,Rish S,Hackshaw AK

更新日期：2003-07-01 00:00:00

abstract：:Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...

journal_title：Prenatal diagnosis

authors： Baldwin T

更新日期：2006-07-01 00:00:00

abstract：OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ

更新日期：2013-03-01 00:00:00

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：BACKGROUND:Despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose Down syndrome (DS) is still limited and better diagnostic testing is needed. METHODS:Plasma from 8 women carrying a DS foetus and 12 with non-DS foetuses matched for gestational age...

journal_title：Prenatal diagnosis

authors： Kolialexi A,Tsangaris GT,Papantoniou N,Anagnostopoulos AK,Vougas K,Bagiokos V,Antsaklis A,Mavrou A

更新日期：2008-08-01 00:00:00

abstract：:Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...

journal_title：Prenatal diagnosis

authors： Mann K,Ogilvie CM

更新日期：2012-04-01 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：OBJECTIVES:Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give mo...

journal_title：Prenatal diagnosis

authors： van den Berg M,Timmermans DR,Kleinveld JH,Garcia E,van Vugt JM,van der Wal G

更新日期：2005-01-01 00:00:00

abstract：OBJECTIVES:The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS:Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed regarding prenatal detectio...

journal_title：Prenatal diagnosis

authors： Jørgensen DE,Vejlstrup N,Jørgensen C,Maroun LL,Steensberg J,Hessellund A,Jørgensen FS,Larsen T,Shalmi AC,Skibsted L,Zingenberg H,Ekelund C,Tabor A

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...

journal_title：Prenatal diagnosis

authors： Bhaduri M,Fong K,Toi A,Tomlinson G,Okun N

更新日期：2010-03-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：OBJECTIVES:We hypothesized that increased facility with fetal echocardiographic diagnosis by obstetricians is associated with changes in its indications and yields. METHODS:We reviewed 300 fetal echocardiograms (December 2002-August 2003) and compared our findings with previous studies. RESULTS:Mean maternal age was ...

journal_title：Prenatal diagnosis

authors： Friedberg MK,Silverman NH

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal pregnancy-associated plasma protein-A (PAPP-A), that is, <0.3 multiples of median (MoM) at the first trimester screening. METHOD:A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at...

journal_title：Prenatal diagnosis

authors： Kaijomaa M,Ulander VM,Hämäläinen E,Alfthan H,Markkanen H,Heinonen S,Stefanovic V

更新日期：2016-12-01 00:00:00

abstract：OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...

journal_title：Prenatal diagnosis

authors： Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

更新日期：2018-12-01 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：:In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appe...

journal_title：Prenatal diagnosis

authors： Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton D

更新日期：1987-11-01 00:00:00

abstract：:Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...

journal_title：Prenatal diagnosis

authors： Schoenfeld A,Ovadia J,Neri A,Abramovici A,Klibanski C

更新日期：1982-07-01 00:00:00