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Prenatal Diagnosis

journal
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#1
M C de Wit, E M Bunnik, A T J I Go, I D de Beaufort, R M W Hofstra, E A P Steegers, R J H Galjaard
No abstract text is available yet for this article.
November 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29144536/isolation-and-whole-genome-sequencing-of-fetal-cells-from-maternal-blood-towards-the-ultimate-non-invasive-prenatal-testing
#2
Fang Chen, Ping Liu, Ying Gu, Zhu Zhu, Amulya Nanisetti, Zhangzhang Lan, Zhiwei Huang, Sophie Jia Liu, Xiongbin Kang, Yuqing Deng, Liqiong Luo, Dan Jiang, Yong Qiu, Jianchang Pan, Jun Xia, Ken Xiong, Chao Liu, Lin Xie, Qianyu Shi, Jing Li, Xiuqing Zhang, Wei Wang, Snezana Drmanac, Hui Jiang, Radoje Drmanac, Xun Xu
OBJECTIVE: To develop a methodology of isolating fetal cells from maternal blood and use deep sequencing demonstrating the promise for more complete and accurate genetic screening compared to other non-invasive prenatal testing (NIPT). METHODS: Here in this study, we developed a double negative selection (DNS) procedure to unbiasedly enrich fetal cells. After validated by short tandem repeat (STR), the isolated CFCs were subjected to deep whole genome sequencing analysis (WGS)...
November 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#3
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29119613/mri-and-us-in-the-evaluation-of-fetal-anomalies-the-need-to-work-together
#4
S Bernardo, A Giancotti, A Antonelli, G Rizzo, V Vinci, A Pizzuti, C Catalano, L Manganaro
PURPOSE: Real-time Virtual Sonography (RVS) is a new technique that synchronizes real-time ultrasonography (US) and multiplanar reconstructed Magnetic Resonance images (MRI). The purpose of this study was to evaluate the feasibility and ability of RVS to assess the main pathologies in fetuses with suspected US anomalies. METHOD AND MATERIALS: RVS (Hitachi, HI VISION Ascendus) was offered to 30 patients who had undergone Fetal MRI. The acquired MRI image dataset was loaded into the fusion system and displayed together with the real-time US image...
November 9, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29119569/the-utility-of-fetal-neurosonography-and-brain-mri-in-cases-of-cytomegalovirus-infection-during-pregnancy-a-retrospective-analysis-with-outcome-correlation
#5
Roee Birnbaum, Liat Ben-Sira, Tally Lerman-Sagie, Gustavo Malinger
OBJECTIVE: To analyze ultrasound and MRI results and developmental outcome in cases of maternal primary CMV infection during pregnancy. METHODS: We retrospectively reviewed the results of fetal neurosonography and brain MRI of CMV infected fetuses (Group 1). Cases of maternal infection in which the fetal status was unknown, and subsequently had a negative CMV postnatal urine analysis, were independently analyzed (Group 2). Imaging results were classified as: positive, negative or inconclusive...
November 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29111618/toxic-metals-in-amniotic-fluid-and-altered-gene-expression-in-cell-free-fetal-rna
#6
Lisa Smeester, Elizabeth M Martin, Pete Cable, Wanda Bodnar, Kim Boggess, Neeta L Vora, Rebecca C Fry
Both exposure to toxic metals, as well as deficiencies in essential metals, during pregnancy has been linked to a variety of negative reproductive outcomes. The exact etiologies of such outcomes and the effects of fetal exposure to these metals are largely unknown. Therefore, the ability to assess levels of these elements is critical to determining the underlying causes of such conditions and the effects that both essential and non-essential metals have in fetal development. Thus, using cell-free fetal RNA (cffRNA) from amniotic fluid, we set out to measure the association between amniotic fluid levels of toxic and essential metals and fetal gene expression...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29111614/has-non-invasive-prenatal-testing-impacted-termination-of-pregnancy-and-live-birth-rates-of-infants-with-down-syndrome
#7
Melissa Hill, Angela Barrett, Mahesh Choolani, Celine Lewis, Jane Fisher, Lyn S Chitty
BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS). AIM: Investigate the impact of NIPT on termination and live birth rates for DS. METHODS: Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29110323/prenatal-diagnosis-and-prognosis-of-isolated-subependymal-cysts-a-retrospective-cohort-study
#8
Mengmeng Yang, Ying Jiang, Qinqing Chen, Min Lv, Qiong Luo
OBJECTIVE: To investigate the significance of prenatal diagnosis of subependymal cysts (SEC). Diagnoses were made by brain ultrasonography(bUS) and confirmed by fetal brain Magnetic Resonance Imaging (MRI). METHODS: We reviewed all the cases of isolated SEC diagnosed antenatally in our center from January 1(st) , 2014 to December 31(st) , 2015 and confirmed by fetal MRI. We followed up their evolution throughout pregnancy and the neonatal neurodevelopment at 3, 6 and 12 months using the Gesell Developmental Schedule (GDS)...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29110322/in-silico-size-selection-is-effective-in-reducing-false-positive-nips-cases-of-monosomy-x-that-are-due-to-maternal-mosaic-monosomy-x
#9
Jekaterina Shubina, Dmitry Yu Trofimov, Ilya Yu Barkov, Olga K Stupko, Andrey Yu Goltsov, Irina S Mukosey, Nana K Tetruashvili, Lyudmila V Kim, Vladimir A Bakharev, Natalia A Karetnikova, Taisya O Kochetkova, Regina V Krasheninnikova, Andrey A Bystritskiy, Gennady T Sukhikh
OBJECTIVES: The aim of this study was to establish maternal contribution to false positive NIPS results and develop the method to distinguish maternal and fetal origin of high-risk monosomy X noninvasive prenatal DNA screening (NIPS) calls including mosaic maternal cases. METHOD: A total of 906 women carrying singleton pregnancies have been recruited. Maternal plasma DNA semiconductor massive parallel sequencing was performed to detect common aneuploidies. For the case of high monosomy X risk call, analysis method to distinguish fetal and maternal monosomy X have been additionally applied...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29110317/fetal-growth-standards-in-gastroschisis-reference-values-for-ultrasound-measurements
#10
Mariane Massaini Barbieri, João Renato Bennini, Marcelo Luís Nomura, Sirlei Siani Morais, Fernanda Garanhani Surita
OBJECTIVES: To create growth curves based on ultrasonography biometric parameters of fetuses with gastroschisis, comparing them with normal growth standards and to analyze umbilical artery (AU) Doppler velocimetry patterns. METHODS: A cohort study of 72 fetuses with gastroschisis, at gestational ages between 14 and 39 weeks was designed. Mean and standard deviation were calculated, with the 5th, 10th, 50th, 90th and 95th centiles being established for biometric parameters according to gestational age...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29096422/non-invasive-fetal-rhd-genotyping-of-rhd-negative-pregnant-women-for-targeted-anti-d-therapy-in-australia-a-cost-effectiveness-analysis
#11
Louisa G Gordon, Catherine Hyland, Jon Hyett, Helen O'Brien, Glenda Millard, Robert Flower, Glenn Gardener
To undertake a cost-effectiveness analysis of non-invasive fetal RHD genotyping to target pregnant women for antenatal anti-D prophylaxis therapy. METHOD: A decision-analytic model was constructed to compare RHD testing and targeted anti-D prophylaxis, with current universal anti-D prophylaxis among pregnant women with RhD negative blood type. Model estimates were derived from national perinatal statistics, published literature, donor program records and national cost sources. One-way sensitivity analyses addressed the uncertainty of variables on the main findings...
November 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29096039/diagnosis-of-lethal-or-prenatal-onset-autosomal-recessive-disorders-by-parental-exome-sequencing
#12
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango-Allen, Lisa Bradley, Angela F Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury-Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L Baple, Sian Ellard
OBJECTIVE: Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred. METHOD: Exome sequencing was carried out in a consecutive series of 50 couples who had one or more pregnancies affected with a lethal or prenatal-onset disorder...
November 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29080223/comparison-of-first-tier-cell-free-dna-screening-for-common-aneuploidies-with-conventional-publically-funded-screening
#13
Sylvie Langlois, JoAnn Johnson, François Audibert, Jean Gekas, Jean Claude Forest, André Caron, Keli Harrington, Melanie Pastuck, Hasna Meddour, Amélie Tétu, Julian Little, François Rousseau
OBJECTIVE: This study evaluates the impact of offering cfDNA screening as a first tier test for trisomies 21 and 18. METHODS: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies. RESULTS: 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate of 5...
October 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29072330/prenatal-diagnosis-of-chronic-intestinal-pseudo-obstruction-and-paternal-somatic-mosaicism-for-the-actg2-pathogenic-variant
#14
Aubrey Milunsky, Joanna Lazier, Clinton Baldwin, Carmen Young, Daniel Primack, Jeff M Milunsky
No abstract text is available yet for this article.
October 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29071724/risk-factors-for-fetomaternal-bleeding-after-laser-therapy-for-twin-twin-transfusion-syndrome
#15
Andrew H Chon, Lisa M Korst, Brendan H Grubbs, Eftichia V Kontopoulos, Rubén A Quintero, Ramen H Chmait
OBJECTIVE: To quantify and assess potential risk factors for transplacental passage of fetal red blood cells (RBCs) into the maternal circulation (feto-maternal bleed, FMB) after laser surgery for twin-twin transfusion syndrome (TTTS). STUDY DESIGN: A retrospective study of Rhesus (Rh)-D negative patients that underwent laser surgery for TTTS. Patients with and without post-operative detectable fetal RBCs on Kleihauer-Betke (KB) testing were compared to determine risk factors for FMB...
October 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#16
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29025196/prenatal-molecular-diagnosis-in-rasa1-related-disease
#17
Aurélien Palmyre, Mélanie Eyries, Marie-Victoire Senat, Augustin Ozanne, Stéphanie Staraci, Philippe Dufour, Thierry Chinet, Pascal Lacombe, Florent Soubrier, Philippe Charron
RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications...
October 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29025195/chromosomal-and-subchromosomal-anomalies-associated-to-small-for-gestational-age-fetuses-with-no-additional-structural-anomalies
#18
Ruan Peng, Yi Zhou, Hong-Ning Xie, Mei-Fang Lin, Ju Zheng
OBJECTIVES: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. METHODS: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no) and umbilical artery (UA) Doppler flow (normal or abnormal)...
October 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29023902/an-incidental-finding-of-maternal-multiple-myeloma-by-non-invasive-prenatal-testing
#19
Marion Imbert-Bouteille, Jean Chiesa, Jean-Baptiste Gaillard, Véronique Dorvaux, Lucille Altounian, Vincent Gatinois, Eve Mousty, Sanae Finge, Pascal Bourquard, Joris Robert Vermeesch, Eric Legius, Peter Vandenberghe
No abstract text is available yet for this article.
October 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29023931/evaluation-of-the-right-and-left-ventricles-an-integrated-approach-measuring-the-area-length-and-width-of-the-chambers-in-normal-fetuses
#20
Greggory R DeVore, Berthold Klas, Gary Satou, Mark Sklansky
INTRODUCTION: The purpose of this study was to simultaneously measure with speckle tracking software (STS) the end-diastolic ventricular area (A), basal transverse width (BW), mid-chamber transverse width, (MW) and the basal-apical length (BAL) in normal fetuses and those with pathology. METHODS: The 4-chamber view of the fetal heart was obtained in 200 control fetuses between 20 and 40 weeks of gestation and in nine 3rd trimester fetuses with heart malformations...
October 10, 2017: Prenatal Diagnosis
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