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https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#1
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27882439/obstetric-and-perinatal-outcome-of-babies-born-from-sperm-selected-by-macs-from-a-randomized-controlled-trial
#2
Laura Romany, Nicolas Garrido, Ana Cobo, Belen Aparicio-Ruiz, Vicente Serra, Marcos Meseguer
PURPOSE: The purpose of this study is to assess outcomes after magnetic-activated cell sorting (MACS) technology on obstetric and perinatal outcomes compared with those achieved after swim up from randomized controlled trial. METHODS: This is a two-arm, unicentric, prospective, randomized, and triple-blinded trial and has a total of 237 infertile couples, between October 2010 and January 2013. A total of 65 and 66 newborns from MACS and control group, respectively, were described...
November 23, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27876014/prenatal-diagnosis-in-sweden-2011-to-2013-a-register-based-study
#3
Kerstin Petersson, Marie Lindkvist, Margareta Persson, Peter Conner, Annika Åhman, Ingrid Mogren
BACKGROUND: Prenatal diagnosis involves methods used in early pregnancy as either screening tests or diagnostic methods. The aims of the study were to i) investigate guidelines on prenatal diagnosis in the counties of Sweden, ii) investigate uptake of prenatal diagnosis, and iii) background characteristics and pregnancy outcomes in relation to different prenatal diagnostic methods. METHODS: A retrospective cross-sectional study using data from the Swedish Pregnancy Register 2011 to 2013 (284,789 pregnancies) was performed...
November 22, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27872513/vaginal-lactoferrin-modulates-pge2-mmp-9-mmp-2-and-timp-1-amniotic-fluid-concentrations
#4
Alessandro Trentini, Martina Maritati, Carlo Cervellati, Maria C Manfrinato, Arianna Gonelli, Carlo A Volta, Fortunato Vesce, Pantaleo Greco, Franco Dallocchio, Tiziana Bellini, Carlo Contini
Inflammation plays an important role in pregnancy, and cytokine and matrix metalloproteases (MMPs) imbalance has been associated with premature rupture of membranes and increased risk of preterm delivery. Previous studies have demonstrated that lactoferrin (LF), an iron-binding protein with anti-inflammatory properties, is able to decrease amniotic fluid (AF) levels of IL-6. Therefore, we aimed to evaluate the effect of vaginal LF administration on amniotic fluid PGE2 level and MMP-TIMP system in women undergoing genetic amniocentesis...
2016: Mediators of Inflammation
https://www.readbyqxmd.com/read/27859455/women-s-choices-for-invasive-or-non-invasive-testing-influence-of-gestational-age-and-service-delivery
#5
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/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#6
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27828853/prenatal-sonographic-diagnosis-of-urorectal-septum-malformation-sequence-and-chromosomal-microarray-analysis-a-case-report-and-review-of-the-literature
#7
Yan Pei, Qingqing Wu, Yan Liu, Lijuan Sun, Wenxue Zhi, Puqing Zhang
INTRODUCTION: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#8
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
November 4, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27806672/amniotic-fluid-clusterin-in-pregnancies-complicated-by-the-preterm-prelabor-rupture-of-membranes
#9
Ivana Musilova, Ctirad Andrys, Marcela Drahosova, Ondrej Soucek, Lenka Pliskova, Martin Stepan, Tomas Bestvina, Jan Maly, Bo Jacobsson, Marian Kacerovsky
OBJECTIVE: The aim of this study was to evaluate clusterin concentrations in amniotic fluid in pregnancies complicated by preterm prelabor rupture of membranes (PPROM) with respect to the presence of the microbial invasion of the amniotic cavity (MIAC), intra-amniotic inflammation (IAI), and microbial-associated IAI. METHODS: One hundred thirty-six women with singleton pregnancies complicated by preterm prelabor rupture of membranes were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27806654/prenatal-cytogenetic-diagnosis-in-taiwan-a-nationwide-population-based-study
#10
Hua-Pin Chang, Jeng-Yuan Chiou, Jia-Yuh Chen, Pen-Hua Su
PURPOSE: The goal of this study was to gain a better understanding of the status of advanced maternal age among criteria for provision of amniocentesis in pregnant women in Taiwan. MATERIALS AND METHOD: Data of 315,670 second-trimester amniocenteses from 28 national certified cytogenetics laboratories were retrospectively analyzed from the Prenatal Genetic Diagnosis Declaring and Database System of the Health Promotion Administration, Ministry of Health and Welfare in Taiwan between 2006 and 2013...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27794570/limiting-the-exposure-of-select-fetuses-to-intrauterine-infection-inflammation-improves-short-term-neonatal-outcomes-in-preterm-premature-rupture-of-membranes
#11
Karen L Archabald, Irina A Buhimschi, Mert O Bahtiyar, Antonette T Dulay, Sonya S Abdel-Razeq, Christian M Pettker, Heather S Lipkind, John T Hardy, Megan E McCarthy, Guomao Zhao, Vineet Bhandari, Catalin S Buhimschi
BACKGROUND: To improve neonatal outcomes in pregnancies at heightened risk for early-onset neonatal sepsis (EONS), there is a need to identify fetuses that benefit from expectant management as opposed to early delivery. Detectable haptoglobin and haptoglobin-related protein (Hp&HpRP switch-on status) in cord blood has been proposed as a biomarker of antenatal exposure to intra-amniotic infection and/or inflammation (IAI), an important determinant of EONS. SUBJECTS AND METHODS: We analyzed 185 singleton newborns delivered secondary to preterm premature rupture of membranes (PPROM)...
October 29, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#12
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#13
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27777709/genetic-counseling-for-a-prenatal-diagnosis-of-structural-chromosomal-abnormality-with-high-resolution-analysis-using-a-single-nucleotide-polymorphism-microarray
#14
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46, XY, add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male...
August 8, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27773741/arterial-dysgenesis-and-limb-defects-clinical-and-experimental-examples
#15
Neil Vargesson, David R Hootnick
Limb malformations are amongst the most common and visible birth effects. Causes have been purported to include genetic aberrations as well as teratogens, such as thalidomide. Here we review the evidence for vascular disruption in the genesis of limb malformations through abnormal arterial transitioning and from events such as amniocentesis, uterine constriction, and through teratogen exposure. We use several clinical and experimental examples and highlight the need to understand more about the role the vascular system plays in the molecular mechanisms underpinning normal limb development...
October 20, 2016: Reproductive Toxicology
https://www.readbyqxmd.com/read/27757190/the-effect-of-diagnostic-amniocentesis-and-its-complications-on-early-spontaneous-abortion
#16
Fatemeh Tara, Marzieh Lotfalizadeh, Somayeh Moeindarbari
INTRODUCTION: The occurrence of early abortion after amniocentesis is a serious problem in the fields of obstetrics and gynecology, and it is always important to discover the factors influencing this phenomenon. The incidence rate has been reported in different studies, even up to about 10%. So far, no studies have been conducted in Iran on the effect of amniocentesis and related complications on early abortion. The aim of this study was to determine the effects of amniocentesis and relevant complications on the incidence of early abortion in pregnant women undergoing amniocentesis...
August 2016: Electronic Physician
https://www.readbyqxmd.com/read/27756173/quad-versus-cfdna-in-an-urban-population-in-the-second-trimester-for-detection-of-trisomy-21-a-cost-sensitivity-analysis
#17
Sarah Crimmins, Lauren Doyle, Julia Slejko, Jerome N Kopelman, Ozhan Turan
OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cfDNA) in an urban population who did not have first trimester screening as a primary screening tool for trisomy 21(T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013-2015. All QUAD screen performed between 15-21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27755564/untargeted-metabolomic-analysis-of-amniotic-fluid-in-the-prediction-of-preterm-delivery-and-bronchopulmonary-dysplasia
#18
Eugenio Baraldi, Giuseppe Giordano, Matteo Stocchero, Laura Moschino, Patrizia Zaramella, Maria Rosa Tran, Silvia Carraro, Roberto Romero, Maria Teresa Gervasi
OBJECTIVE: Bronchopulmonary dysplasia (BPD) is a serious complication associated with preterm birth. A growing body of evidence suggests a role for prenatal factors in its pathogenesis. Metabolomics allows simultaneous characterization of low molecular weight compounds and may provide a picture of such a complex condition. The aim of this study was to evaluate whether an unbiased metabolomic analysis of amniotic fluid (AF) can be used to investigate the risk of spontaneous preterm delivery (PTD) and BPD development in the offspring...
2016: PloS One
https://www.readbyqxmd.com/read/27751426/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-rec-10-dup-10p-inv-10-p11-2q26-3-in-a-fetus-associated-with-paternal-pericentric-inversion
#19
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27751425/molecular-cytogenetic-characterization-of-an-inv-dup-15-chromosome-presenting-as-a-small-supernumerary-marker-chromosome-associated-with-the-inv-dup-15-syndrome
#20
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
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