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Fetal discordance

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https://www.readbyqxmd.com/read/28911011/evaluating-the-relationship-between-birth-weight-for-gestational-age-and-adult-blood-pressure-using-participants-from-a-cohort-of-same-sex-siblings-discordant-on-birth-weight-percentile
#1
Linda G Kahn, Stephen L Buka, Piera M Cirillo, Barbara A Cohn, Pam Factor-Litvak, Matthew W Gillman, Ezra Susser, L H Lumey
Many studies have described an inverse relationship between birth weight and blood pressure (BP). Debate continues, however, over the magnitude and validity of the association. This analysis draws on the Early Determinants of Adult Health study (2005-2008), a cohort of 393 US adults (mean age 43 years; 47% male), including 114 same-sex sibling pairs deliberately sampled to be discordant on sex-specific birth weight for gestational age (BW/GA) in order to minimize confounding in studies of fetal growth and midlife health outcomes...
September 1, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#2
Xiaomei Shi, Lin Li, Xuan Huang, Baojiang Chen, Yi Zhou, Qun Fang
OBJECTIVE: To assess the clinical characteristics of fetal aneuploidy between dichorionic twins (DCT) and monochorionic twins (MCT) undergoing invasive prenatal diagnosis. METHODS: Twin fetuses undergoing invasive prenatal diagnosis were enrolled in this study. All twin fetuses were classified into 2 groups according to chorionicity. The rates of fetal aneuploidy in different groups were compared. RESULT: This study included 1,714 fetuses (857 sets of twin pairs); among them, 1,190 were DCT and 524 were MCT...
September 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28855395/rare-autosomal-trisomies-revealed-by-maternal-plasma-dna-sequencing-suggest-increased-risk-of-feto-placental-disease
#3
Mark D Pertile, Meredith Halks-Miller, Nicola Flowers, Catalin Barbacioru, Sarah L Kinnings, Darcy Vavrek, William K Seltzer, Diana W Bianchi
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromosomes 21, 18, 13, X, and Y; sequencing results from other chromosomes may be masked. We hypothesized that by systematically analyzing WGS data from all chromosomes, we could identify rare autosomal trisomies (RATs) to improve understanding of feto-placental biology...
August 30, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28838266/recurrence-of-extreme-serum-analytes-in-consecutive-pregnancies-and-association-with-obstetrical-outcomes
#4
Shelly Soni, David A Krantz, Meir Greenberg, Nidhi Vohra, Burton Rochelson
OBJECTIVE: To evaluate if presence of extreme maternal serum biochemical analytes recurs in consecutive pregnancies. We hypothesized that presence of >1 extreme analyte in prior pregnancy is associated with increased risk of adverse pregnancy outcome in subsequent pregnancy. METHODS: Retrospective cohort study of singleton pregnancies evaluated and delivered in 2 consecutive pregnancies (2011-2015). Adverse outcomes were defined as indicated preterm delivery before 37 completed weeks due to preeclampsia, fetal growth restriction or other complications...
September 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28837243/clinical-accuracy-of-abnormal-cell-free-fetal-dna-cfdna-results-for-the-sex-chromosomes
#5
Emily W Scibetta, Stephanie G Valderramos, Rashmi R Rao, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SC). Study Design This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice, from March 2013 to July 2015. CfDNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. RESULTS: Of fifty abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex-discordant on US...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28781851/cell-free-dna-results-lead-to-unexpected-diagnosis
#6
Jessica Smith, Victoria Kean, Diana W Bianchi, Gerald Feldman, Nancie Petrucelli, Michael Simon, Bernard Gonik
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#7
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28755531/the-role-of-ultrasound-in-the-prediction-of-birth-weight-discordance-in-twin-pregnancies-are-we-there-yet
#8
Ana Raquel Neves, Filipa Nunes, Miguel Branco, Maria do Céu Almeida, Isabel Santos Silva
OBJECTIVE: To analyze the accuracy of ultrasound prediction of birth weight discordance (BWD) and the influence of chorionicity and fetal growth restriction (FGR) on ultrasound performance. METHODS: Retrospective analysis of 176 twin pregnancies at a Portuguese tertiary center, between 2008 and 2014. Last ultrasound biometry was recorded. Cases with delivery before 24 weeks, fetal malformations, interval between last ultrasound and deliver >3 weeks, twin-to-twin transfusion syndrome and monoamniotic pregnancies were excluded...
July 29, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#9
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28704197/expectant-management-in-di-chorionic-pregnancies-complicated-by-discordant-anomalous-twin
#10
Paola Algeri, Francesca M Russo, Maddalena Incerti, Sabrina Cozzolino, Francesca Pelizzoni, Davido P Bernasconi, Luca Montanelli, Luca Locatelli, Patrizia Vergani
Fetal malformations are more frequent in twins than in singletons. The aim of our study was to define the influence of a malformed twin on di-chorionic pregnancy outcomes. We performed a retrospective cohort study of di-chorionic pregnancies delivered between 2000 and 2015. Exclusion criteria were: both twins affected by fetal malformations, double intra-uterine fetal death in pregnancies without fetal malformation, selective feticide and therapeutic pregnancy termination. We compared maternal and fetal outcomes of di-chorionic pregnancies not complicated by fetal malformations with pregnancies affected by a single malformed fetus with conservative management...
July 12, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28695339/different-information-by-mri-compare-to-ultrasound-in-fetal-intracranial-space-occupying-lesions
#11
Wei Xia, Gregor Kasprian, Daoyu Hu, Peng Xiao, Wenzhong Yang, Xinlin Chen
PURPOSE: The purpose of this study was to evaluate the value of prenatal magnetic resonance imaging (MRI) in characterizing fetal intracranial space occupying lesions in comparison to prenatal ultrasound. METHODS: This retrospective study included 50 fetuses (mean age 26 years, mean gestational weeks 31 + 1 GW) with intracranial space occupying lesions, suspected by prenatal screening ultrasound. T2-weighted, T1-weighted, SSFP, and diffusion-weighted sequences of the fetal brain were obtained on a 1...
July 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28691603/dichorionic-twins-discordant-for-massive-perivillous-fibrinoid-deposition-report-of-a-case-and-review-of-the-literature
#12
Ona Faye-Petersen, Adrienne Sauder, Ydamis Estrella, Debra S Heller
Massive perivillous fibrinoid deposition (MFD) and maternal floor infarction (MFI) are lesions of unknown etiology associated with poor perinatal outcomes, including fetal intrauterine growth restriction and neurodevelopmental injury, high risks of pregnancy loss, and recurrence in subsequent gestations. MFI comprises massive intervillous fibrinoid deposition concentrated at the maternal floor. MFD is a similar lesion but is diffuse within the parenchyma. MFD/MFI lesions represent a spectrum of severity of cloak-like perivillous fibrinoid deposition, and there is mounting evidence that, often, they represent sequelae of immune-mediated phenomena and/or an imbalance in factors that normally maintain the fluidity of blood in the maternal space...
July 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#13
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28622784/first-trimester-inter-and-intrafetal-size-discrepancies-in-bichorionic-twins-conceived-by-in%C3%A2-vitro-fertilization-can-it-predict-pregnancy-outcome
#14
Ron Bardin, Galia Oron, Yael Levy, Onit Sapir, Israel Meizner, Benjamin Fisch, Arnon Wiznitzer, Eran Hadar
OBJECTIVE: To evaluate the association between first-trimester inter- and intrafetal size discrepancies and pregnancy outcome, among bichorionic-biamniotic twins conceived by IVF. DESIGN: A retrospective study design was used. SETTING: Tertiary university-affiliated medical center. PATIENT(S): All women with a viable first-trimester bichorionic-biamniotic twin gestation, who conceived after IVF in 2007-2015. INTERVENTION(S): None...
August 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#15
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28569757/fetal-and-postnatal-metal-dysregulation-in-autism
#16
Manish Arora, Abraham Reichenberg, Charlotte Willfors, Christine Austin, Chris Gennings, Steve Berggren, Paul Lichtenstein, Henrik Anckarsäter, Kristiina Tammimies, Sven Bölte
Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure profiles of essential and toxic elements. Significant divergences are apparent in metal uptake between ASD cases and their control siblings, but only during discrete developmental periods...
June 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/28566836/apparent-normal-arrangement-pattern-of-three-vessel-view-in-a-fetus-with-transposition-of-great-arteries-and-l-malposed-aorta
#17
Sudeep Verma, Shanthi Chidambaratanu, Raja Vijaylakshmi, Latha Srinivasan, Indrani Suresh
Transposition of great arteries (TGA) is more commonly associated with D-malposition of great arteries where anterior aorta produces characteristic "I" sign in the three-vessel view (3VV) in fetal heart imaging. We describe two cases with TGA and L-malposition of aorta where 3VV imaging showed an apparently normal arrangement of vessels while outflow tract imaging proved vital in diagnosing transposition anatomy. Apparently, normal 3VV in the presence of disproportionate vessel caliber and inability to produce normal outflow images should raise the suspicion...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#18
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#19
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28484895/diagnosis-of-umbilical-cord-entanglement-in-a-monochorionic-diamniotic-twin-pregnancy-with-spontaneous-septostomy-of-the-dividing-membranes-using-dual-gate-doppler-imaging
#20
Ayumu Ito, Masahiko Nakata, Ayako Oji, Mayumi Takano, Nahomi Umemura, Sumito Nagasaki, Toshimitsu Maemura, Mineto Morita
Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes...
May 8, 2017: Journal of Medical Ultrasonics
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