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Amniocentesis

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https://www.readbyqxmd.com/read/29232625/prenatal-detection-of-trisomy-8-mosaicism-pregnancy-outcome-and-follow-up-of-a-series-of-17-consecutive-cases
#1
Matteo Cassina, Annapaola Calò, Leonardo Salviati, Alberta Alghisi, Annamaria Montaldi, Maurizio Clementi
OBJECTIVE: To study the outcome of a series of individuals with prenatal detection of trisomy 8 mosaicism by chorionic villus sampling (CVS) and/or amniocentesis. STUDY DESIGN: The databases of two Italian genetics units were reviewed to identify all consultations requested during pregnancy because of trisomy 8 mosaicism. To evaluate the pregnancy outcome, the regional registry of congenital malformations (including terminations of pregnancies) was consulted; additional follow-up data were collected by a telephone interview...
December 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29226760/the-diagnostic-performance-of-the-beta-glucan-assay-in-the-detection-of-intra-amniotic-infection-with-candida-species
#2
Percy Pacora, Roberto Romero, Offer Erez, Eli Maymon, Bogdan Panaitescu, Juan Pedro Kusanovic, Adi L Tarca, Chaur-Dong Hsu, Sonia S Hassan
INTRODUCTION: A bioassay based on the detection of beta-glucan, a constituent of the cell wall of fungi, has been successfully used to diagnose fungal infections in a variety of biological fluids but not yet in the amniotic fluid. OBJECTIVE: To determine the diagnostic performance of a beta-glucan bioassay in the detection of Candida species in the amniotic fluid. METHODS: The study population comprised women who had a singleton pregnancy without congenital or chromosomal abnormalities, who experienced preterm labor or preterm prelabor rupture of the fetal membranes, and who underwent transabdominal amniocentesis for clinical indications...
December 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29225627/isolation-and-molecular-characterization-of-amniotic-fluid-derived-mesenchymal-stem-cells-obtained-from-caesarean-sections
#3
Lucas-Sebastian Spitzhorn, Md Shaifur Rahman, Laura Schwindt, Huyen-Tran Ho, Wasco Wruck, Martina Bohndorf, Silke Wehrmeyer, Audrey Ncube, Ines Beyer, Carsten Hagenbeck, Percy Balan, Tanja Fehm, James Adjaye
Human amniotic fluid cells are immune-privileged with low immunogenicity and anti-inflammatory properties. They are able to self-renew, are highly proliferative, and have a broad differentiation potential, making them amenable for cell-based therapies. Amniotic fluid (AF) is routinely obtained via amniocentesis and contains heterogeneous populations of foetal-derived progenitor cells including mesenchymal stem cells (MSCs). In this study, we isolated human MSCs from AF (AF-MSCs) obtained during Caesarean sections (C-sections) and characterized them...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29215843/-influence-of-partial-hepatectomie-on-ammoniumdetoxications-function-of-liver-at-chronic-tetrachlorcarbon-hepatitis
#4
P N Savilov
The purpose. To study the effect of partial hepatectomy (PH) on the main ways of ammonia detoxication in the liver (synthesis of urea and glutamine) in chronic tetrachlorcarbon (CCl4) hepatitis. Methods. The experiments were performed on 165 white outbred rats (females) weighing 180-220 g Chronic CCl4-hepatitis was reproduced by subcutaneous injection of 50% CCl4 solution in olive oil (0.1 ml/100g of body weight,65 days, through the day with two two-week breaks between 6-7 and 13-14 injections). PH conducted electrocautery, removing part of the left lobe of the liver (15-20% by weight of the body) to 65th (and last) day of the introduction of the CCl4...
April 2017: Patologicheskaia Fiziologiia i èksperimental'naia Terapiia
https://www.readbyqxmd.com/read/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#5
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29210307/amniotic-fluid-oxidant-antioxidant-status-in-foetal-congenital-nervous-system-anomalies
#6
Numan Cim, Harun Egemen Tolunay, Erbil Karaman, Barıs Boza, Mustafa Bilici, Orkun Çetin, Recep Yıldızhan, Hanım Guler Sahin
Objective This study aimed to evaluate the oxidant-antioxidant status of amniotic fluid in pregnant women with foetal congenital malformations of the central nervous system. Methods We studied pregnant women with foetal congenital nervous system anomalies at 16-22 weeks' gestation (n = 36). The control group (n = 30) consisted of pregnant women at the same gestational age who underwent amniocentesis, resulting in a normal karyotype. We analysed glutathione, catalase, and malondialdehyde levels in amniotic fluid...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29206494/prenatal-diagnosis-of-twin-fetuses-with-a-novel-ar-gene-mutation-in-a-chinese-family-of-complete-androgen-insensitivity-syndrome
#7
Weiqing Wu, Qian Geng, Yang Liu, Zhiyong Xu, Peining Li, Jiansheng Xie
INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29202976/perinatal-outcomes-after-natural-conception-versus-in%C3%A2-vitro-fertilization-ivf-in-gestational-surrogates-a-model-to-evaluate-ivf-treatment-versus-maternal-effects
#8
Irene Woo, Rita Hindoyan, Melanie Landay, Jacqueline Ho, Sue Ann Ingles, Lynda K McGinnis, Richard J Paulson, Karine Chung
OBJECTIVE: To study the perinatal outcomes between singleton live births achieved with the use of commissioned versus spontaneously conceived embryos carried by the same gestational surrogate. DESIGN: Retrospective cohort study. SETTING: Academic in vitro fertilization center. PATIENT(S): Gestational surrogate. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Pregnancy outcome, gestational age at birth, birth weight, perinatal complications...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29193454/amniotic-fluid-pentraxins-potential-early-markers-for-identifying-intra-amniotic-inflammatory-complications-in-preterm-pre-labor-rupture-of-membranes
#9
Ivana Musilova, Ctirad Andrys, Jan Krejsek, Marcela Drahosova, Barbora Zednikova, Lenka Pliskova, Helena Zemlickova, Bo Jacobsson, Marian Kacerovsky
In this study, pentraxin 3 (PTX3), C-reactive protein (CRP), and serum amyloid P component (SAP) concentrations in the amniotic fluid of women with preterm pre-labor rupture of membranes (PPROM) were evaluated based on evidence of microbial invasion of the amniotic cavity (MIAC), intra-amniotic inflammation (IAI), and microbial-associated IAI. A total of 149 women with PPROM were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis. Amniotic fluid PTX3, SAP, and CRP concentrations were assessed using enzyme-linked immunosorbent assay...
November 28, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29188615/-prenatal-diagnosis-of-two-fetuses-with-chromosome-1p36-deletion-syndrome
#10
Xiuqing Ji, Huanran Hu, Yan Wang, Dong Liang, Chunyu Luo, Lulu Meng, Jing Zhou, Li Cao, Dingyuan Ma, Ping Hu, Zhengfeng Xu
OBJECTIVE: To analyze two fetuses with multiple malformations revealed by ultrasonography using single nucleotide polymorphism array (SNP array), and to explore the strategy for the prenatal diagnosis of 1p36 deletion syndrome. METHODS: Amniocentesis was performed on the two pregnant women. Amnion fluid cells were cultured, and karyotypes of the fetuses were determined through G-banding analysis. Whole genome SNP array was used to detect genomic anomalies of the two fetuses...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29177106/anti-m-alloimmunization-management-and-outcome-at-a-single-institution
#11
Bethany Stetson, Scott Scrape, Kara Beth Markham
Objective  The objective of this study was to review the management strategies and outcomes in gravidas with anti-M alloimmunization over 15 years. Study Design  Data collected from 195 pregnant patients with anti-M antibodies from July 2000 through June 2016 were reviewed retrospectively. We analyzed indirect antiglobulin test titer results, paternal or fetal/neonatal M antigen status, antepartum course, and perinatal outcomes. Results  Anti-M antibodies were found in 146 women and 195pregnancies. Among those with positive indirect antiglobulin tests, 193 pregnancies had titers at or below 1:4...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29171892/parenting-in-the-age-of-preimplantation-gene-editing
#12
Sigal Klipstein
Medical science at its core aims to preserve health and eliminate disease, but a common theme in scientific discovery is the application of findings in ways that were not the primary intent. The development of diagnostic modalities to predict the health of resulting children has been a fundamental aim underpinning research into prenatal and preimplantation diagnostic modalities; however, the knowledge gained has in some cases been utilized for nonmedical purposes. As an example, amniocentesis developed to determine whether the pregnancy is chromosomally normal also provides information about the sex of the fetus, which normally does not affect health...
December 2017: Hastings Center Report
https://www.readbyqxmd.com/read/29167740/prenatal-maternal-plasma-dna-screening-for-cystic-fibrosis-a-computer-modelling-study-of-screening-performance
#13
Robert W Old, Jonathan P Bestwick, Nicholas J Wald
Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. Computer modelling was carried out to estimate the distributions of these percentages in pregnancies with and without a fetus affected with CF...
2017: F1000Research
https://www.readbyqxmd.com/read/29166461/presumed-zika-virus-related-congenital-brain-malformations-the-spectrum-of-ct-and-mri-findings-in-fetuses-and-newborns
#14
José Daniel Vieira de Castro, Licia Pacheco Pereira, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar, Joanira Costa Nogueira Maia, Jesus Irajacy Fernandes da Costa, Eveline Campos Monteiro de Castro, Francisco Edson de Lucena Feitosa, Francisco Herlânio Costa Carvalho
OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...
October 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29164644/should-embryos-with-autosomal-monosomy-by-preimplantation-genetic-testing-for-aneuploidy-be-transferred-implications-for-embryo-selection-from-a-systematic-literature-review-of-autosomal-monosomy-survivors
#15
REVIEW
M E Bunnell, L Wilkins-Haug, R Reiss
OBJECTIVE: To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of IVF-derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT-A). METHOD: Ovid-Medline and EMBASE were systematically searched to identify published case reports of live-born individuals with autosomal monosomy, full or mosaic, for a whole chromosome. RESULTS: Fifty-three reports describing 56 individuals with autosomal monosomy met the selection criteria: one case each of monosomy 14 and 16, three each for monosomy 15 and 18, one for group "E", five for monosomy 20, twenty-four for monosomy 21, seven for monosomy 22, and eleven for a "G" group chromosome...
November 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29163631/prenatal-diagnosis-of-fragile-x-can-a-full-mutation-allele-in-the-fmr1-gene-contract-to-a-normal-size
#16
Esther Manor, Azhar Jabareen, Nurit Magal, Arei Kofman, Randi J Hagerman, Flora Tassone
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his maternal grandmother. No size mosaicism was detected by testing the DNA from in vitro cultured samples, including seventh passage culture as well as from two amniocentesis samples...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29161799/risk-of-miscarriage-following-amniocentesis-and-chorionic-villus-sampling-a-systematic-review-of-the-literature
#17
Jaroslaw Beta, Cristina Lesmes-Heredia, Chiara Bedetti, Ranjit Akolekar
OBJECTIVES: To estimate the risk of miscarriage after amniocentesis or chorionic villus sampling (CVS) based on a systematic review of the literature. METHODS: A search of MEDLINE, EMBASE, and The Cochrane Library (2000-2017) was carried out to identify studies reporting complications following CVS or amniocentesis. The inclusion criteria for the systematic review were studies reporting results from large controlled studies (n≥1,000 invasive procedures) and those reporting data for pregnancy loss prior to 24 weeks' gestation...
November 21, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/29156453/use-of-genetic-testing-after-abnormal-screening-ultrasound-a-descriptive-cohort-study
#18
Alessandra J Ainsworth, Michelle A Holman, Elisabeth Codsi, Myra Wick
BACKGROUND/AIMS: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. METHODS: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. RESULTS: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound...
November 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#19
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/29145274/diagnosis-of-fetal-megacystis-with-chromosomal-abnormality-by-2d-prenatal-ultrasound-a-case-report
#20
Fuman She, Shengwen Dong, Bibo Yuan, Xiaoli Gao
RATIONALE: The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS: The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES: Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities...
November 2017: Medicine (Baltimore)
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