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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/27891637/fetal-magnetocardiography-using-optically-pumped-magnetometers-a-more-adaptable-and-less-expensive-alternative
#1
Hari Eswaran, Diana Escalona-Vargas, Elijah H Bolin, James D Wilson, Curtis L Lowery
No abstract text is available yet for this article.
November 27, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27885689/pathogenesis-and-diagnosis-of-placental-disorders-is-related-to-abnormal-methylation-at-promoters-of-placental-vascularization-mediating-genes
#2
Beenish Rahat, Rauf Ahmad Najar, Abid Hamid, Rashmi Bagga, Jyotdeep Kaur
OBJECTIVES: To investigate the role of methylation levels at promoter regions of placental vascularization genes (VEGF, EGFR and c-jun) in pathogenesis and diagnosis of placental disorders. METHODS: We analyzed DNA and histone methylation at promoters of VEGF, EGFR and c-jun via methylation-sensitive high resolution melting and chromatin immunoprecipitation assay in pregnant women with normal pregnancy in first, second and third trimester (n = 30 in each group) and pregnant women with pregnancy complicated with preeclampsia (n = 30) and hydatidiform mole (n = 15)...
November 24, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27885678/what-happens-when-n%C3%A2-%C3%A2-1-and-you-want-plus-1
#3
Matthew Might, Cristina Might
We present a personal case study of what happens when a family has a child with an undiagnosed genetic disorder yet wishes to have more children free of the disease. After an intractable diagnostic odyssey for our oldest son, our family turned to exome sequencing. Exome sequencing found likely pathogenic variants of uncertain significance in the gene NGLY1. We used social media to uncover more cases for the newly discovered disorder and confirm the diagnosis in the process. With a diagnosis, we then explored and experienced a broad range of options for conceiving a child free of the disorder...
November 24, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27878832/prenatal-cfdna-screening-results-indicative-of-maternal-neoplasm-survey-of-current-practice-and-management-needs
#4
Meagan E Giles, Lauren Murphy, Nevena Krstić, Cathy Sullivan, Syed S Hashmi, Blair Stevens
OBJECTIVE: To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. METHODS: A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). RESULTS: Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that NIPT results may suggest maternal neoplasm and 77% reported they would disclose such results...
November 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862087/current-controversies-in-prenatal-diagnosis-3-industry-drives-innovation-in-research-and-clinical-application-of-genetic-prenatal-diagnosis-and-screening
#5
Mark I Evans, Joris Robert Vermeesch
No abstract text is available yet for this article.
November 18, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862078/current-controversies-in-prenatal-diagnosis-1-in-utero-therapy-for-spina-bifida-is-ready-for-endoscopic-repair
#6
Michael Belfort, Jan Deprest, Kurt Hecher
No abstract text is available yet for this article.
November 18, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#7
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few antenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859447/the-co-occurrence-of-down-syndrome-and-autism-spectrum-disorder-is-it-because-of-additional-genetic-variations
#8
Angela L Rachubinski, Susan Hepburn, Ellen R Elias, Katheleen Gardiner, Tamim H Shaikh
Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862084/intra-and-inter-observer-reproducibility-and-generalizability-of-first-trimester-uterine-artery-pulsatility-index-by-transabdominal-and-transvaginal-ultrasound
#9
Laura Marchi, Eva Zwertbroek, Judith Snelder, Maaike Kloosterman, Caterina Maddalena Bilardo
OBJECTIVES: The primary aim of the study was to assess intra-observer and inter-observer reproducibility and generalizability (general reliability) of first trimester Doppler measurements of uterine arteries (UtA) performed both transabdominally (TA) and transvaginally (TV). Secondary aims were to investigate whether maternal BMI and acquisition modality (transabdominal or transvaginal) affect feasibility and reliability of UtA Doppler evaluation. METHODS: Singleton pregnancies between 11(+0) and 13(+6) weeks underwent TA and TV Doppler measurements of UtA prospectively, blindly and independently by Fetal Medicine Foundation-accredited operators...
November 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862072/views-of-american-ob-gyns-on-the-ethics-of-prenatal-whole-genome-sequencing
#10
Michelle J Bayefsky, Amina White, Paul Wakim, Sara Chandros Hull, David Wasserman, Stephanie Chen, Benjamin E Berkman
OBJECTIVE: Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use. METHODS: A national survey was administered to 2,500 members of ACOG...
November 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859463/how-many-procedures-does-it-take-success-of-a-cvs-training-program-for-maternal-fetal-medicine-fellows
#11
Alexis C Gimovsky, Sindy C Moreno, Sara Nicholas, Amanda Roman, Stuart Weiner
OBJECTIVES: To quantify the learning curve for a training program for Maternal Fetal Medicine (MFM) fellows in obtaining successful transvaginal chorionic villus sampling (CVS) results in women with early pregnancy failure (EPF). METHODS: Retrospective observational cohort study of transvaginal CVS and subsequent manual vacuum aspiration (MVA) performed by MFM fellows. CVS samples were sent for karyotype, and products of conception (POC) were sent if CVS sample did not yield a result...
November 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862111/quantification-of-total-fetal-brain-volume-using-3d-mr-imaging-data-acquired-in-utero
#12
Deborah Jarvis, Rahim Akram, Laura Mandefield, Michael Paddock, Paul Armitage, Paul D Griffiths
OBJECTIVE: Interpretation of MR imaging of the fetal brain in utero is primarily undertaken using 2D images to provide anatomical information about structural abnormalities. It is now possible to obtain 3D image acquisitions that allow measurement of fetal brain volumes that are potentially useful clinically. The aim of our current work is to provide reference values of total brain volumes obtained from a cohort of low risk fetuses with no abnormalities on ante-natal ultrasonography and in utero MR imaging...
November 13, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862070/are-ultrasound-renal-aspects-associated-with-urinary-biochemistry-in-fetuses-with-lower-urinary-tract-obstruction
#13
Ahmed A Nassr, Chester Koh Koh, Alireza A Shamshirsaz, Jimmy Espinoza, Haleh Sangi-Haghpeykar, Dina Sharhan, Stephen Welty, Joseph Angelo, David Roth, Michael A Belfort, Michael Braun, Rodrigo Ruano
OBJECTIVE: To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS: Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 and September 2015. The following renal ultrasound markers were assessed immediately before the vesicocentesis: renal echogenicity, presence of cortical cysts, presence of findings suggestive of 'renal dysplasia' (hyperechogenic cystic kidneys with no cortical-medullary differentiation) and severe oligohydramnios (amniotic fluid < 5th percentile)...
November 12, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862088/prognostic-dilemmas-and-genetic-counseling-for-prenatally-detected-fragile-x-gene-expansions
#14
Brenda Finucane, Sharyn Lincoln, Lindsay Bailey, Christa Lese Martin
With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from maternal FMR1 testing involves an intermediate allele, also known as a gray zone result, which requires genetic counseling but poses minimal risk for an adverse developmental outcome. By contrast, the finding of a maternal FMR1 pre- or full mutation during pregnancy has important implications for the woman herself, her unborn child, and her extended family...
November 11, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862069/mutations-in-the-ercc2-xpd-gene-associated-with-severe-fetal-ichthyosis-and-dysmorphic-features
#15
Marguerite Miguet, Julien Thevenon, Vincent Laugel, Mathilde Lefebvre, Aurélie Bourchany, Jean-Baptiste Rivière, Yannis Duffourd, Elise Schaefer, Maria Cristina Antal, Rosalie Abida, Anne-Sophie Weingertner, Valérie Kremer, Pierre Vabres, Fanny Morice-Picard, Marie Gonzales, Dan Lipsker, Sylvie Fraitag, Jean-Louis Mandel, Jamel Chelly, Hélène Dollfus, Laurence Faivre, Christel Thauvin-Robinet, Nadège Calmels, Salima El Chehadeh
No abstract text is available yet for this article.
November 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862048/favorable-outcomes-after-in-utero-transfusion-in-fetuses-with-alpha-thalassemia-major-a-case-series-and-review-of-the-literature
#16
Emily M Kreger, Sylvia T Singer, Russell G Witt, Nancy Sweeters, Billie Lianoglou, Ashutosh Lal, Tippi C Mackenzie, Elliott Vichinsky
OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUT) are increasingly used to allow fetal survival in ATM, pre- and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation and transfusion independence...
November 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#17
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NHSL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#18
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tai Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability, dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27859455/women-s-choices-for-invasive-or-non-invasive-testing-influence-of-gestational-age-and-service-delivery
#19
An Chen, Henni Tenhunen, Paulus Torkki, Seppo Heinonen, Paul Lillrank, Vedran Stefanovic
OBJECTIVE: To investigate the factors influencing women's post-counseling choices between non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis in pregnancies with elevated a priori risk of fetal chromosomal abnormalities or after the initial screening. METHODS: Data were collected from test choice database at Fetomaternal Medical Center (FMC) at Helsinki University Hospital, Finland. We focused on the women with gestational age less than 15 weeks and who were offered NIPT or invasive procedure (CVS or amniocentesis) after pre-test counseling...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27813120/prediction-of-neonatal-outcome-of-ttts-by-fetal-heart-and-doppler-ultrasound-parameters-before-and-after-laser-treatment
#20
Amélie Delabaere, France Leduc, Quentin Reboul, Florent Fuchs, Sandrine Wavrant, Jean-Claude Fouron, François Audibert
OBJECTIVES: To determine the prognostic value of fetal Doppler and echocardiographic parameters for neonatal survival up to 30 days after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHODS: Fetal echocardiography and outcome data of consecutive cases of TTTS treated by laser were retrospectively reviewed. Hemodynamic and cardiac function parameters were collected before and after laser. RESULTS: Between February 2006 and January 2015, 106 fetoscopic laser were performed...
November 3, 2016: Prenatal Diagnosis
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