Differential patterns of prenatal ipsilateral and contralateral lung growth in cases of isolated left-sided congenital diaphragmatic hernia.

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 00:00:00

abstract：:Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...

journal_title：Prenatal diagnosis

authors： Bajoria R,Kingdom J

更新日期：1997-12-01 00:00:00

abstract：OBJECTIVE:Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndr...

journal_title：Prenatal diagnosis

authors： Mazloom AR,Džakula Ž,Oeth P,Wang H,Jensen T,Tynan J,McCullough R,Saldivar JS,Ehrich M,van den Boom D,Bombard AT,Maeder M,McLennan G,Meschino W,Palomaki GE,Canick JA,Deciu C

更新日期：2013-06-01 00:00:00

abstract：:Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...

journal_title：Prenatal diagnosis

authors： Harris K,Yudin MH

更新日期：2020-12-01 00:00:00

abstract：OBJECTIVE:To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved version of the diagnostic formula and perform a larger validation study. ...

journal_title：Prenatal diagnosis

authors： Tsaliki E,Papageorgiou EA,Spyrou C,Koumbaris G,Kypri E,Kyriakou S,Sotiriou C,Touvana E,Keravnou A,Karagrigoriou A,Lamnissou K,Velissariou V,Patsalis PC

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS:Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benig...

journal_title：Prenatal diagnosis

authors： Bornstein E,Gulersen M,Krantz D,Cheung SW,Maliszewski K,Divon MY

更新日期：2018-11-01 00:00:00

abstract：OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated u...

journal_title：Prenatal diagnosis

authors： Craig WY,Roberson M,Palomaki GE,Shackleton CH,Marcos J,Haddow JE

更新日期：2010-09-01 00:00:00

abstract：OBJECTIVE:To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...

journal_title：Prenatal diagnosis

authors： Santos XM,Papanna R,Johnson A,Cass DL,Olutoye OO,Moise KJ Jr,Belleza-Bascon B,Cassady CI

更新日期：2010-05-01 00:00:00

abstract：OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...

journal_title：Prenatal diagnosis

authors： Chen CP,Lin CC,Li YC,Chern SR,Lee CC,Chen WL,Lee MS,Wang W,Tzen CY

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...

journal_title：Prenatal diagnosis

authors： Cowans NJ,Spencer K

更新日期：2011-05-01 00:00:00

abstract：:Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red bl...

journal_title：Prenatal diagnosis

authors： Dallapiccola B,Novelli G,Micara G,Ferranti G,Pachi A,Magnani M

更新日期：1983-10-01 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：OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...

journal_title：Prenatal diagnosis

authors： Chen M,Hsieh CY,Shih JC,Chou CH,Ma GC,Chen TH,Lee TH,Tsai HD,Cameron AD,Chen CP

更新日期：2007-05-01 00:00:00

abstract：OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...

journal_title：Prenatal diagnosis

authors： Edwards A,Mulvey S,Wallace EM

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...

journal_title：Prenatal diagnosis

authors： Barel O,Maymon R,Barak U,Smorgick N,Tovbin J,Vaknin Z

更新日期：2014-12-01 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:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...

journal_title：Prenatal diagnosis

authors： Pighin S,Bonnefon JF,Savadori L

更新日期：2011-08-01 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：OBJECTIVES:We present the first prenatal diagnosis of familial hepatic veno-occlusive disease with immunodeficiency (VODI). Homozygous mutations in the gene SP110 are the genetic basis of VODI. The proband in this report presented at three months of age with hepatomegaly hepatic failure and was found to have hypogammag...

journal_title：Prenatal diagnosis

authors： Cliffe ST,Wong M,Taylor PJ,Ruga E,Wilcken B,Lindeman R,Buckley MF,Roscioli T

更新日期：2007-07-01 00:00:00

abstract：:22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to inc...

journal_title：Prenatal diagnosis

authors： Bunnell M,Zhang C,Lee C,Bianchi DW,Wilkins-Haug L

更新日期：2017-04-01 00:00:00

abstract：:Fetal cardiac intervention was first proposed in the early 1990s to impact cardiac development and survival of fetuses with fetal aortic stenosis and evolving hypoplastic left heart syndrome (HLHS). Although initial attempts of fetal aortic valvuloplasty were unsuccessful and carried a high rate of morbidity and morta...

journal_title：Prenatal diagnosis

authors： Guseh SH,Friedman KG,Wilkins-Haug LE

更新日期：2020-03-01 00:00:00

abstract：:We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...

journal_title：Prenatal diagnosis

authors： Stiller RJ,Lieberson D,Herzlinger R,Siddiqui D,Laifer SA,Whetham JC

更新日期：1999-06-01 00:00:00

abstract：:An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studi...

journal_title：Prenatal diagnosis

authors： Wang BB,Yu LC,Peng W,Falk RE,Williams J 3rd

更新日期：1995-12-01 00:00:00

abstract：:A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or tr...

journal_title：Prenatal diagnosis

authors： Nagel HT,Vandenbussche FP,Keirse MJ,Oepkes D,Oosterwijk JC,Beverstock G,Kanhai HH

更新日期：1998-05-01 00:00:00

abstract：:The pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow-up until 4 weeks after delivery was 99.4 per cent. Various patient- and procedure-related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwi...

journal_title：Prenatal diagnosis

authors： Lunshof S,Boer K,Leschot NJ,Pomp M,Wolf H

更新日期：1995-09-01 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：OBJECTIVES:To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. METHODS:Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period....

journal_title：Prenatal diagnosis

authors： Watson MS,Hall S,Langford K,Marteau TM

更新日期：2002-07-01 00:00:00

abstract：OBJECTIVE:To evaluate decision analysis as a technique to facilitate women's decision-making about prenatal diagnosis for Down syndrome using measures of effective decision-making. DESIGN:Randomised controlled trial in a UK hospital's prenatal diagnosis clinic. INTERVENTION:Routine versus routine consultation structu...

journal_title：Prenatal diagnosis

authors： Bekker HL,Hewison J,Thornton JG

更新日期：2004-04-01 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：OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

更新日期：2012-05-01 00:00:00