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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28635180/renal-vascularization-indexes-and-fetal-hemodynamics-in-fetuses-with-growth-restriction
#1
Giovana Farina Doro, Janaína Campos Senra, Agatha Sacramento Rodrigues, Seizo Miyadahira, Renata Lopes Ribeiro, Rossana Pulcinelli Vieira, Lisandra Stein Bernardes
OBJECTIVE: To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD: Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were used to determine the renal vascular indexes and fetal and placental hemodynamics in fetuses below the 10(th) percentile for fetal weight. Partial correlation analysis (controlled for renal depth and gestational age) was performed...
June 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28626857/fetal-intracranial-hemorrhage-role-of-fetal-mri
#2
Laura Sanapo, Matthew T Whitehead, Dorothy I Bulas, Homa K Ahmadzia, Lindsay Pesacreta, Taeun Chang, Adre du Plessis
OBJECTIVE: To date, prenatal diagnosis of intracranial hemorrhage (ICH) is mainly based on ultrasound (US) findings rather than magnetic resonance imaging (MRI). We aimed to: investigate the role of MRI in the diagnosis of fetal ICH among pregnancies referred to fetal MRI and to characterize the topography of fetal ICH using MRI. METHODS: We retrospectively identified fetal ICH cases diagnosed by MRI from 2008-2015, and reviewed their prenatal and postnatal medical records...
June 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28623846/sonocad-a-software-to-solve-the-dilemma-of-the-prenatal-diagnosis-of-fetal-syndromes
#3
Mahmoud Abdelnaby, Abdulmeneam Fawzi, Manal Swelem, Hisham Elgammal, Hamdy Elgammal
OBJECTIVE: The aim of this work is to develop an efficient, user friendly, time saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. MATERIALS AND METHOD: SonoCAD (Sonographyic Computer Assisted Diagnosis) program was developed in 4 phases. Phase I, data gathering phase. Phase II the software development phase in which the source code of the software was developed. Phase III, system testing phase, was divided into 2 steps...
June 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#4
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621806/inequalities-in-uptake-of-prenatal-screening-according-to-ethnicity-and-socio-economic-status-in-the-four-largest-cities-of-the-netherlands-2011-2013
#5
Anke G Posthumus, Ingrid A Peters, Gerard J Borsboom, Maarten F C M Knapen, Gouke J Bonsel
OBJECTIVES: In the Netherlands, all women are claimed to have equal access to prenatal screening (PS). Prior research demonstrated substantial inequalities in PS uptake associated with socioeconomic status (SES) and ethnic background. The suggested pathway was a lack of intention to participate in PS among these subgroups. We studied the background of inequalities in PS participation, challenging intention heterogeneity as the single explanation. METHODS: Multivariable logistic regression analyses of the national PS registry, focusing on the four largest cities in the Netherlands (n= 4578, years 2011-2013), stratified by SES...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621803/absent-pulmonary-valve-syndrome-diagnosis-associations-and-outcome-in-71-prenatally-diagnosed-cases
#6
Roland Axt-Fliedner, Andrii Kurkevych, Maciej Slodki, Maria Respondek-Liberska, Katarzyna Zych-Krekora, Rüdiger Stressig, Jochen Ritgen, Guiseppe Rizzo, Martin Krapp, Luc de Catte, Gunther Mielke, Stephan Bosselmann, Mathias Meyer-Wittkopf, Andrea Kawecki, Aline Wolter, Marios Mamalis, Christian Enzensberger
OBJECTIVE: To analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. METHOD: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group (IPCCG). Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#7
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28614902/parental-response-to-severe-or-lethal-prenatal-diagnosis-a-systematic-review-of-qualitative-studies
#8
REVIEW
Stina Lou, Lotte Groth Jensen, Olav Bjørn Petersen, Ida Vogel, Lone Hvidman, Anne Møller, Camilla Palmhøj Nielsen
OBJECTIVE: A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify and synthesize the qualitative evidence regarding prospective parents' responses to such prenatal diagnoses. METHODS: Following PRISMA guidelines, four databases were systematically searched and 28 studies met the inclusion criteria...
June 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28613385/expanded-conventional-first-trimester-screening
#9
Jonathan B Carmichael, Hsiao-Pin Liu, David Janik, Terrence W Hallahan, Kypros H Nicolaides, David A Krantz
OBJECTIVE: To determine the performance of a five (5) serum marker plus ultrasound screening protocol for T21, T18 and T13. METHOD: Specimens from 331 unaffected, 34 T21, 19 T18 and 8 T13 cases were analyzed for free Beta hCG, PAPP-A, AFP, PlGF and dimeric inhibin A (DIA). Gaussian distributions of MoM values were used to estimate modeled false positive and detection rates. RESULTS: For T21, at a 1/300 risk cut-off, detection rate of screening with all five serum markers along with nuchal translucency and nasal bone was 98% at a 1...
June 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28603837/the-added-value-of-f-tapse-in-the-surveillance-of-pregnancies-complicated-by-fetal-and-placental-tumors
#10
Sharon Perlman, Baruch Messing, Yishay Salem, Shiran Porat, Reuven Achiron, Yinon Gilboa
INTRODUCTION: Fetal and placental tumors are associated with high prevalence of obstetrical complications and poor fetal outcome. The aim of our study was to assess the added value of serial fetal Tricuspid Annular Plane Systolic Excursion (f-TAPSE) measurements for monitoring cardiac function in cases of fetal and placental tumors. METHODS: Serial measurements of f-TAPSE were performed prospectively in fetuses referred for fetal and placental tumors. The patients were followed longitudinally every 2 weeks...
June 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28591488/salvage-of-fetal-karyotype-information-from-snp-array-data-obtained-from-products-of-conception-with-maternal-cell-contamination
#11
Karin Sasaki, Kosei Abe, Takahide Mori, Kazunori Hashimoto, Kazuhiko Nakabayashi
OBJECTIVE: Maternal cell contamination (MCC) is known to increase the risk of misdiagnosis in prenatal diagnosis as well as in diagnostic tests for the products of conception (POC) from miscarriages. We aimed to develop a data correction method to salvage fetal karyotype information from SNP array data for POC with MCC when parental genotype data are available. METHODS: We obtained SNP array data from mixed genomic DNAs of a mother-child pair and used the dataset to assess the accuracy of data correction...
June 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28585331/the-length-of-y-chromosomal-sequence-reads-in-non-invasive-prenatal-testing-reflect-allogeneic-bone-marrow-transplant
#12
Marie Balslev-Harder, Finn Stener Jørgensen, Susanne Kjaergaard, Peter Johansen
No abstract text is available yet for this article.
June 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28573747/triploidy-variability-of-sonographic-phenotypes
#13
Diana Massalska, Julia Bijok, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVES: To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for prenatal sonographic assessment of triploid fetuses. METHODS: We conducted a retrospective analysis of the sonographic features in a series of 67 triploid fetuses evaluated between 11 and 30 weeks of gestation in a single referral center between 1997-2015. RESULTS: non-specific structural fetal defects were visualized in the majority of fetuses (61...
June 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28569377/testing-for-noonan-syndrome-after-increased-nuchal-translucency
#14
Marwan M Ali, Stephen T Chasen, Mary E Norton
OBJECTIVE: The aim of this study was to report the prevalence of NS in a cohort of fetuses that presented with increased NT thickness in the first trimester of pregnancy. METHODS: This is a retrospective chart review. INCLUSION CRITERIA: 1. First trimester NT measurement ≥ 3 mm 2. Normal karyotype by either a CVS or an amniocentesis procedure 3. Prenatal molecular genetic testing for NS completed. Results with known pathogenic variants were considered positive, while those with variants of unknown clinical significance, or with no variants were considered negative...
June 1, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28568219/neurodevelopmental-outcome-of-isolated-ventriculomegaly-a-prospective-cohort-study
#15
Omer Bar-Yosef, Eran Barzilay, Sara Dorembus, Reuven Achiron, Eldad Katorza
OBJECTIVE: Data regarding the neurodevelopmental outcome of children diagnosed in utero with isolated ventriculomegaly (IVM) is limited and principally founded on ultrasound-based studies. Here we endeavored to assess the outcome of such cases in a large-scale, MRI-based study. METHODS: We conducted a study on 133 cases of IVM with a documented fetal brain MRI scan. Children were assessed at ages 18 to 36 months using the Vineland Adaptive Behavior Scales (VABS)...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28568170/diagnostic-accuracy-work-up-and-outcomes-of-pregnancies-with-clubfoot-detected-by-prenatal-sonography
#16
Maya Sharon-Weiner, Rivka Sukenik-Halevy, Ronnie Tepper, Ami Fishman, Tal Biron-Shental, Ofer Markovitch
OBJECTIVE: To assess diagnostic accuracy, related findings and outcomes of fetuses with clubfoot. METHODS: Sonographic characteristics, pregnancy work-up and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS: Among 40,320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109(46.7%) fetuses and unilateral in 58/109(53...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28561435/comparing-methods-for-fetal-fraction-determination-and-quality-control-of-nipt-samples
#17
Daphne M van Beek, Roy Straver, Marian M Weiss, Elles M J Boon, Karin Huijsdens-van Amsterdam, Cees B M Oudejans, Marcel J T Reinders, Erik A Sistermans
OBJECTIVE: To compare available analysis methods for determining fetal fraction on single read Next Generation Sequencing data. This is important as the performance of Non-invasive Prenatal Testing procedures depends on the fraction of fetal DNA. METHODS: We tested six different methods for the detection of fetal fraction in NIPT samples. The same clinically obtained data were used for all methods, allowing us to assess the effect of fetal fraction on the test result, and to investigate the use of fetal fraction for quality control...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28556966/effects-of-sample-processing-and-storage-on-the-integrity-of-cell-free-mirnas-in-maternal-plasma
#18
Luisa F Olaya, Jonathan A Hyett, Susan V McLennan
BACKGROUND: Cell free fetal miRNAs have been identified as potential biomarkers for fetal abnormalities and/or placental function. Factors affecting the stability of cell free fetal miRNA samples (type of collection tube and time interval between sampling and analysis) have not previously been reported. METHODS: Blood from pregnant women (n = 12, 18 ± 4 weeks' gestation) was collected into two types of tube (EDTA and RNA BCT) and was stored at different temperatures for up to 72 hours...
May 30, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28543167/a-novel-homozygous-splice-site-mutation-in-ryr1-causes-fetal-hydrops-and-affects-skeletal-and-smooth-muscle-development
#19
Nicole Meier, Elisabeth Bruder, Isabel Filges
No abstract text is available yet for this article.
May 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28514830/association-of-maternal-serum-papp-a-levels-nuchal-translucency-and-crown-rump-length-in-first-trimester-with-adverse-pregnancy-outcomes-retrospective-cohort-study
#20
Ashwini Bilagi, Danielle L Burke, Richard D Riley, Ian Mills, Mark D Kilby, R Katie Morris
OBJECTIVE: Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD: Retrospective cohort women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression, outcomes: small for gestational age (SGA), pre-eclampsia (PE), pre-term birth (PTB), miscarriage, stillbirth, perinatal mortality and neonatal death (NND)...
May 17, 2017: Prenatal Diagnosis
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