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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28219116/prevalence-timing-of-diagnosis-and-pregnancy-outcome-of-abdominal-wall-defects-after-the-introduction-of-a-national-prenatal-screening-program
#1
Hanneke Fleurke-Rozema, Karline van de Kamp, Marian Bakker, Eva Pajkrt, Caterina Bilardo, Rosalinde Snijders
OBJECTIVE: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. METHODS: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies, and pregnancy outcome...
February 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207948/right-sided-aortic-arch-in-the-age-of-microarray
#2
Edward F O'Mahony, Darren P Hutchinson, George McGillivray, Debbie L Nisbet, Ricardo Palma-Dias
OBJECTIVE: For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy we aimed to establish the frequency of chromosomal anomaly diagnosed with SNP microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and 6 probe fish (13,18,21, X,Y, TUPLE). METHOD: Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207935/false-negative-fetal-cell-free-dna-screening-for-microdeletion-syndromes-in-the-presence-of-an-unbalanced-translocation-involving-monosomy-4p
#3
Zhongxia Qi, Shreshtha Madaan, Shilpa Chetty, Jingwei Yu, Arun P Wiita
No abstract text is available yet for this article.
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207933/chorionic-villus-sampling-in-the-cell-free-dna-aneuploidy-screening-era-careful-selection-criteria-can-maximise-the-clinical-utility-of-screening-and-invasive-testing
#4
Stefan C Kane, Karen L Reidy, Fiona Norris, Deborah L Nisbet, Louise H Kornman, Ricardo Palma-Dias
OBJECTIVES: To quantify the impact of cell-free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. METHODS: Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cell-free DNA screening panels...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207930/elevation-of-glycosaminoglycans-in-the-amniotic-fluid-of-a-fetus-with-mucopolysaccharidosis-vii
#5
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu
OBJECTIVE: The aim of this study was to quantify GAGs in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry (LC/MS/MS), compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207161/prenatal-diagnosis-of-congenital-cytomegalovirus-infection-in-115-cases-a-5%C3%A2-years-single-centre-experience
#6
M Enders, A Daiminger, S Exler, K Ertan, G Enders, R Bald
OBJECTIVE: To investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital CMV infection from amniotic fluid (AF) and fetal blood (FB) METHODS: Retrospective study on 115 pregnancies with CMV primary infection. A total of 111 AF and 106 FB samples were investigated for various virological and non-virological markers. Detailed ultrasound examinations were performed at time of PD. RESULTS: Overall sensitivity of CMV PCR in FB (75.6%; 95%CI 60-87) and AF (72...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#7
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000-6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28181689/prenatal-diagnosis-of-duchenne-muscular-dystrophy-in-131-chinese-families-with-dystrophinopathy
#8
Huanhuan Wang, Yan Xu, Xiaoqing Liu, Lei Wang, Wenting Jiang, Bing Xiao, Wei Wei, Yingwei Chen, Weiping Ye, Xing Ji
OBJECTIVES: To report 6-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD)-affected families evaluated at a single prenatal diagnosis center in China and establish a reliable and rational prenatal diagnosis procedure for DMD families. METHODS: The prenatal diagnosis data of 146 at-risk pregnancies in 131 DMD families referred to our center from 2010 to 2016 were retrospectively reviewed. RESULTS: The mutation detection rate of the probands was greater than 99%...
February 9, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#9
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in 2 referral centers. RESULTS: RAA was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28177533/serial-echocardiography-for-immune-mediated-heart-disease-in-the-fetus-results-of-a-risk-based-prospective-surveillance-strategy
#10
Nobuhiko Kan, Earl D Silverman, John Kingdom, Nathalie Dutil, Carl Laskin, Edgar Jaeggi
OBJECTIVE: Mothers carrying anti-Ro antibodies are frequently referred for weekly echocardiograms to early detect and treat antibody-mediated fetal heart disease. We tested a surveillance strategy based on anti-Ro antibody titers. METHODS: From 2009-2014, 232 pregnancies were referred for maternal anti-Ro antibodies. At the baseline echocardiogram, anti-Ro titers were measured by ELISA and results categorized as negative (<8 U/ml; n = 43; excluded), low-moderate positive (8-49 U/ml; n = 62; group 1) or high positive (50- > 100 U/ml; n = 127; group 2)...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#11
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 262,399 individuals with no known indication or increased probability of SLOS carrier status, primarily US-based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#12
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: To assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases and genetic data were not available for 26 cases...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165141/a-prospective-study-on-first-trimester-prediction-of-ischemic-placental-diseases
#13
Gulnar Nuriyeva, Semir Kose, Gamze Tuna, Melis Kant, Merve Akis, Sabahattin Altunyurt, Gül Huray Islekel, Omer Erbil Dogan
OBJECTIVE: To assess the predictive power of mean uterine artery pulsatility index (Ut A PI), maternal serum placental growth factor (PlGF) and placenta associated plasma protein A (PAPP-A) levels for the development of ischemic placental diseases (IPD) in a cohort of unselected singleton pregnancies during the first trimester combined test (FTCT) period. MATERIALS AND METHODS: A sample of 880 pregnancies was registered between September 2014 and January 2016. After routine examination for FTCT, Ut A PI was measured, and maternal serum was obtained and stored at -80 °C for PlGF assessment...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165140/coffee-control-free-noninvasive-fetal-chromosomal-examination-using-maternal-plasma-dna
#14
Kun Sun, K C Allen Chan, Irena Hudecova, Rossa W K Chiu, Y M Dennis Lo, Peiyong Jiang
OBJECTIVE: The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS: We developed the control-free noninvasive fetal chromosomal examination (COFFEE) algorithm by utilizing the size differences between the fetally derived and maternally derived DNA molecules in maternal plasma...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28152582/contribution-of-maternal-copy-number-variations-to-false-positive-fetal-trisomies-detected-by-noninvasive-prenatal-testing
#15
Xiya Zhou, Lili Sui, Yalan Xu, Yijun Song, Qingwei Qi, Jianguang Zhang, Hongmin Zhu, Huaiyu Sun, Feng Tian, Mengnan Xu, David S Cram, Juntao Liu
OBJECTIVE: The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false positive NIPT trisomy results. METHODS: A total of 112,021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing and results reported as chromosome Z-scores. Copy number variation sequencing (CNV-Seq) was used to detect maternal DNA CNVs. RESULTS: Confirmatory amniocentesis and karyotyping of 563 of 781 patients (72%) receiving a positive trisomy result revealed 489 true and 74 false positives...
February 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28152557/perinatal-outcome-of-placental-massive-perivillous-fibrin-deposition-a-case-control-study
#16
Louise Devisme, Claire Chauvière, Hélène Franquet-Ansart, Anastasia Chudzinski, Morgane Stichelbout, Véronique Houfflin-Debarge, Damien Subtil
OBJECTIVE: To describe the obstetric outcomes associated with massive perivillous fibrin deposition (MFD) compared with a control series and to determine if outcome differs according to the extent of fibrin deposition. METHOD: Retrospective case-control study based on placentas analyzed over a consecutive 12-years period. MFD was considered severe if it extended over more than 50% of the placenta and moderate between 25 and 50%. RESULTS: During the study period, MFD was observed on 71 placentas, 39 severe and 32 moderate...
February 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28152192/effects-of-tracheal-occlusion-with-retinoic-acid-administration-on-normal-lung-development
#17
Delabaere Amélie, Marceau Geoffroy, Coste Karen, Blanchon Loïc, Déchelotte Pierre Jean, Blanc Pierre, Sapin Vincent, Gallot Denis
INTRODUCTION: Tracheal occlusion (TO) is an investigational therapy for severe congenital diaphragmatic hernia (CDH) that decreases pulmonary hypoplasia, but sustained TO also induces deficient surfactant synthesis. Intramuscular maternal administration of retinoic acid (RA) in a surgical rabbit model of CDH showed a beneficial effect on lung maturation. We evaluated the potential of RA delivery into the trachea and studied the combined effects of TO and RA on normal lung development...
February 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28141901/prenatal-genetic-diagnosis-of-costello-syndrome-in-a-male-fetus-with-recurrent-hras-mutation-p-gly12ser
#18
Jennifer Hague, Gerald Hackett, Carlo Acerini, Soo-Mi Park
No abstract text is available yet for this article.
January 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28124379/nuchal-translucency-measurement-in-the-era-of-prenatal-screening-for-aneuploidy-using-cell-free-cf-dna
#19
Barbara M O'Brien, Jacquelyn Halliday, Geralyn Lambert-Messerlian, Elizabeth E Eklund, Edward Kloza, Glenn E Palomaki
No abstract text is available yet for this article.
January 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28124373/what-do-people-want-to-know-about-nipt-content-analysis-of-questions-emailed-to-national-nipt-information-websites
#20
Saskia Tamminga, Laura van Dussen, E J Joanne Verweij, Marjon A de Boer, Martina C Cornel, Lidewij Henneman
No abstract text is available yet for this article.
January 26, 2017: Prenatal Diagnosis
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