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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28317137/prenatal-sonographic-features-of-cranioectodermal-dysplasia
#1
T Muttusamy, A Ma, I Sinnerbrink, A E Quinton, M J Peek, S Joung
No abstract text is available yet for this article.
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#2
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28295455/cryopreserved-human-umbilical-cord-vs-biocellulose-film-for-antenatal-spina-bifida-repair-in-a-physiologic-rat-model
#3
Saul Snowise, Lovepreet Mann, Yisel Morales, Kenneth J Moise, Anthony Johnson, Stephen Fletcher, Raymond J Grill, Scheffer C G Tseng, Ramesha Papanna
BACKGROUND: Antenatal spina bifida (SB) repair with a regenerative patch may improve neurological outcomes by decreasing inflammatory scarring. OBJECTIVE: To compare cryopreserved human umbilical cord (HUC) and biocellulose film (BCF) patches sutured over SB lesions for regeneration of native cells and inflammatory response. STUDY DESIGN: Sprague-Dawley rats were gavaged with retinoic acid on embryonic day 10 (E 10) to induce SB. Hysterotomy was performed on E20 and HUC or BCF patches sutured over the defect...
March 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28278365/the-recurrence-of-sonographic-soft-markers-ominous-sign-or-just-genetics
#4
Yuval Ginsberg, Nizar Khatib, Zeev Weiner, Ron Beloosesky, Moshe Bronshtein
OBJECTIVES: "Soft markers" (SM) are nonspecific findings that might convey a higher risk for Down Syndrome (DS). We sought to determine the recurrence rate of the most common SM in subsequent pregnancies. METHODS: This is a retrospective study of all women who underwent early or late fetal sonographic anatomical screening in our ultrasound unit. The examined soft markers were pyelectasis, thickened nuchal fold (TNF) and echogenic intracardiac foci (EIF). Data on recurrence and pregnancy outcome was retrieved retrospectively...
March 9, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28258706/preimplantation-genetic-haplotyping-for-six-chinese-pedigrees-with-thalassemia-using-a-single-nucleotide-polymorphism-microarray
#5
Xu Liu, Yanwen Xu, Jishan Sun, Zheng Zhang, Jing Wang, Chenhui Ding, S Lilly Zheng, Jianfeng Xu, Canquan Zhou
OBJECTIVE: To demonstrate the accuracy and feasibility of using single nucleotide polymorphism (SNP) array-based preimplantation genetic haplotyping (PGH) in Chinese population, as the currently short tandem repeat (STR) method is labor-intensive and time-consuming. METHOD: Six pedigrees with thalassemia who underwent preimplantation genetic diagnosis (PGD) in the First Affiliated Hospital of Sun Yat-sen University in China were included in this study. In vitro fertilization (IVF) cycles and embryo biopsies were performed in clinics...
March 4, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28252205/oxidative-damage-and-nitric-oxide-synthase-induction-by-surgical-uteroplacental-circulation-restriction-in-the-rabbit-fetal-heart
#6
Horacio Figueroa, Cristobal Alvarado, Jorge Cifuentes, Mauricio Lozano, Jocelyn Rocco, Claudia Cabezas, Sebastian Illanes, Elisenda Eixarch, Edgar Hernández-Andrade, Eduard Gratacós, Carlos E Irarrazabal
OBJECTIVE: This study investigated the role of oxidative damage and nitric oxide (NO) synthases in the fetal heart using a model of intrauterine growth restriction (IUGR) induced by uteroplacental circulation restriction (UCR). METHODS: New Zealand white rabbits kept under 12 hr light cycles, with food and water provided ad libitum, were subjected at day 25 of pregnancy to 40%-50% uteroplacental artery ligation. We analyzed the gene expression of enzymes linked to nitric oxide synthesis (iNOS, eNOS, HO-1, and ARG-2), HIF-1α and the state of oxidative stress (protein carbonyl levels) in fetal heart homogenates...
March 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28233318/targeted-prenatal-diagnosis-of-pallister-killian-syndrome
#7
Anna Kucińska-Chahwan, Julia Bijok, Sylwia Dąbkowska, Anna Jóźwiak, Alicja Ilnicka, Beata Nowakowska, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To present five new cases of prenatally diagnosed Pallister-Killian syndrome and to propose an approach for a targeted diagnosis. METHOD: We retrospectively analyzed ultrasound findings and cytogenetic results in Pallister-Killian syndrome. We also searched through dysmorphology databases for features occurring in PKS that could potentially be seen in prenatal ultrasound examination. RESULTS: On the basis of collected data frequent and distinctive features in fetuses with PKS were established...
February 23, 2017: Prenatal Diagnosis
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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