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https://www.readbyqxmd.com/read/28820889/altered-fetal-growth-placental-abnormalities-and-stillbirth
#1
Radek Bukowski, Nellie I Hansen, Halit Pinar, Marian Willinger, Uma M Reddy, Corette B Parker, Robert M Silver, Donald J Dudley, Barbara J Stoll, George R Saade, Matthew A Koch, Carol Hogue, Michael W Varner, Deborah L Conway, Donald Coustan, Robert L Goldenberg
BACKGROUND: Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth. METHODS AND FINDINGS: Population-based case-control study of all stillbirths and a representative sample of live births in 59 hospitals in 5 geographic areas in the U...
2017: PloS One
https://www.readbyqxmd.com/read/28819188/highly-stabilized-core-satellite-gold-nanoassemblies-in-vivo-dna-directed-self-assembly-peg-modification-and-cell-imaging
#2
Liangfeng Tang, Guiping Yu, Lishan Tan, Min Li, Xiulong Deng, Jianyu Liu, Aiqing Li, Xuandi Lai, Jianqiang Hu
Au nanoparticles (NPs) have important applications in bioimaging, clinical diagnosis and even therapy due to its water-solubility, easy modification and drug-loaded capability, however, easy aggregation of Au NPs in normal saline and serum greatly limits its applications. In this work, highly stabilized core-satellite Au nanoassemblies (CSAuNAs) were constructed by a hierarchical DNA-directed self-assembly strategy, in which satellite Au NPs number could be effectively tuned through varying the ratios of core-AuNPs-ssDNA and satellite-AuNPs-ssDNAc...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817998/defining-fetal-growth-restriction-abdominal-circumference-as-an-alternative-criterion
#3
Steve Rad, S Beauchamp, C Morales, J Mirocha, T F Esakoff
PURPOSE: The purpose of this study is to determine if using abdominal circumference percentile (AC) to define fetal growth restriction (FGR) improves ultrasound at ≥36 weeks as a screening test for small for gestational age (SGA). MATERIALS AND METHODS: All non-anomalous singletons undergoing ultrasound at a single center at ≥36 weeks during 12/2008-5/2014 were included. FGR was defined as (estimated fetal weight) estimated fetal weight (EFW) and/or abdominal circumference (AC) < 10 for gestational age (GA)...
August 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#4
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816710/establishment-of-primary-cell-culture-from-ascitic-fluid-and-solid-tumor-obtained-from-epithelial-ovarian-carcinoma-patients
#5
Rajarshi Kar, Diwesh Chawla, Bindiya Gupta, Mohit Mehndiratta, Neelam Wadhwa, Rachna Agarwal
OBJECTIVE: Ovarian cancer is the seventh leading cause of cancer death worldwide. This is mainly due to late diagnosis and high rate of relapse and resistance following chemotherapy. In the present study, we describe simple and cost-effective method to establish primary culture from ascitic fluid and solid tumor obtained from epithelial ovarian carcinoma patient, which may provide a better tool for in vitro testing of drug sensitivity and designing individualized treatment protocol. METHODS: Complete Dulbecco modified Eagle medium (DMEM) was prepared by supplementing DMEM with 10% fetal bovine serum and antibiotics (ciprofloxacin and amphotericin B)...
August 16, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#6
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#7
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#8
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28808838/comparison-of-coronary-sinus-diameter-z-scores-in-normal-fetuses-and-fetuses-with-persistent-left-superior-vena-cava-plsvc
#9
Mingming Ma, Yan Tan, Ran Chen, Yankai Mao, Bei Wang, Bowen Zhao
To establish Z-score reference ranges for coronary sinus (CS) diameter in normal fetuses and explore the diagnostic value of CS Z-score in fetuses with persistent left superior vena cava (PLSVC). Study of 235 normal fetuses and 30 fetuses with PLSVC was involved. Noncardiac biometrical parameters included biparietal diameter (BPD), femoral length (FL), heart area (HA), gestation age (GA). The coronary sinus systolic and diastolic diameter (CSDs and CSDd ) were measured at the end of systole and diastole. CSDs and CSDd Z-score models were constructed by using linear regression analysis with Non-cardiac biometrical parameters as independent variables...
August 14, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#10
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#11
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805595/prenatal-diagnosis-of-congenital-lobar-fluid-overload
#12
REVIEW
Pei-Shan Tsai, Chih-Ping Chen, Dao Chen Lin, Yu-Peng Liu
Prenatal congenital lobar fluid overload (CLFO), which was first described by Ramsay and Byron, is identical to postnatal congenital lobar overinflation. It is characterized by progressive lobar overexpansion that compresses the other adjacent lung lobes. The underlying cause can be an intrinsic cartilaginous abnormality or an extrinsic airway compression. It may be associated with cardiovascular anomalies in 12%-14% of cases and affects males more frequently than females. Most cases are diagnosed postnatally, but early antenatal diagnosis and sequential follow-up are attempted for early treatment, if clinically indicated...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#13
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28801614/palladium-nanoparticles-entrapped-in-a-self-supporting-nanoporous-gold-wire-as-sensitive-dopamine-biosensor
#14
Xin Yi, Yuxuan Wu, Guoxin Tan, Peng Yu, Lei Zhou, Zhengnan Zhou, Junqi Chen, Zhengao Wang, Jinshan Pang, Chengyun Ning
Traced dopamine (DA) detection is critical for the early diagnosis and prevention of some diseases such as Parkinson's, Alzheimer and schizophrenia. In this research, a novel self-supporting three dimensional (3D) bicontinuous nanoporous electrochemical biosensor was developed for the detection of dopamine by Differential Pulse Voltammetry (DPV). This biosensor was fabricated by electrodepositing palladium nanoparticles (Pd) onto self-supporting nanoporous gold (NPG) wire. Because of the synergistic effects of the excellent catalytic activity of Pd and novel structure of NPG wire, the palladium nanoparticles decorated NPG (Pd/NPG) biosensor possess tremendous superiority in the detection of DA...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800669/fetal-cardiac-myxomas
#15
Shi-Min Yuan
Fetal cardiac myxomas are very rare. To date there has been no representative description of fetal cardiac myxomas. The aim of this study is to highlight the clinical features, possible outcomes and the disparities from the adult cardiac myxomas and other fetal cardiac tumors.A comprehensive literature review yielded 27 reports including 32 cases of fetal cardiac myxomas.Apart from the same pedunculated and solitary nature and echogenic appearance, fetal cardiac myxomas differ from those in adults in many aspects, including tumor location, clinical manifestation and malignant potential...
August 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#16
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28796950/age-related-differences-in-neuropsychological-assessment-of-fetal-alcohol-spectrum-disorder-a-cross-sectional-study
#17
Nicole Taylor, Leah Enns
This cross-sectional study examined six key areas of neuropsychological functioning (cognitive, academic, attention, executive function, adaptive skills) comparing adolescents and school-age children with prenatal alcohol exposure (PAE). The aims were: (1) to examine which neuropsychological measures were predictive of an FASD diagnosis in adolescents and school-age children with PAE, and (2) to compare the neuropsychological performance of adolescents and children diagnosed with FASD. Hierarchical logistic regressions determined that the Full-Scale IQ, Verbal Comprehension and Perceptual Reasoning indices, basic reading and math skills, adaptive functioning at school, and components of executive functioning (dependent on age) improved the probability of an accurate FASD diagnosis in both groups: 9...
August 10, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28795155/detection-of-urine-dna-markers-for-monitoring-recurrent-hepatocellular-carcinoma
#18
Hie-Won Hann, Surbhi Jain, Grace Park, Jamin D Steffen, Wei Song, Ying-Hsiu Su
AIM: This study aimed to explore the potential of detecting hepatocellular carcinoma (HCC)-associated DNA markers, TP53 249T mutations and aberrant methylation of RASSF1A and GSTP1 genes, for monitoring HCC recurrence. HCC remains a leading cause of death worldwide, with one of the fastest growing incidence rates in the US. While treatment options are available and new ones emerging, there remains a poor prognosis of this disease mostly due to its late diagnosis and high recurrence rate...
2017: Hepatoma Research
https://www.readbyqxmd.com/read/28794892/the-use-of-non-invasive-fetal-electrocardiography-in-diagnosing-second-degree-fetal-atrioventricular-block
#19
Igor Lakhno, Joachim A Behar, Julien Oster, Vyacheslav Shulgin, Oleksii Ostras, Fernando Andreotti
BACKGROUND: Complete atrioventricular block in fetuses is known to be mostly associated with autoimmune disease and can be irreversible if no steroids treatment is provided. Conventional methods used in clinical practice for diagnosing fetal arrhythmia are limited since they do not reflect the primary electrophysiological conduction processes that take place in the myocardium. The non-invasive fetal electrocardiogram has the potential to better support fetal arrhythmias diagnosis through the continuous analysis of the beat to beat variation of the fetal heart rate and morphological analysis of the PQRST complex...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28793177/infants-with-prenatally-diagnosed-kidney-anomalies-have-an-increased-risk-of-urinary-tract-infections
#20
Maria Rasmussen, Lone Sunde, René Frydensbjerg Andersen, Olav Bjørn Petersen, Morten Smaerup Olsen
AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of fetuses diagnosed with parenchymal kidney anomalies between 2007 and 2012 had previously been identified. These were compared with fetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age...
August 9, 2017: Acta Paediatrica
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