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Amniocentesis

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https://www.readbyqxmd.com/read/29652985/-mutation-analysis-and-prenatal-diagnosis-for-50-pedigrees-affected-with-duchenne-becker-muscular-dystrophy
#1
Huanzheng Li, Chenyang Xu, Yijian Mao, Jinfang Lu, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29649318/confined-placental-mosaicism-revisited-impact-on-pregnancy-characteristics-and-outcome
#2
Jérôme Toutain, Damien Goutte-Gattat, Jacques Horovitz, Robert Saura
OBJECTIVES: We wanted to re-evaluate the influence of confined placental mosaicism subtypes (type 2 and type 3) on pregnancy characteristics and outcome. MATERIAL AND METHODS: From July 2009 to December 2015, 5512 chorionic villus samplings were performed in our Fetal Medicine Center. Conventional karyotyping was performed after long-term and short-term cultured villi to define type 2 or type 3 confined placental mosaicisms. Karyotype after amniocentesis was performed to exclude true fetal mosaicism, when appropriate...
2018: PloS One
https://www.readbyqxmd.com/read/29616310/what-are-the-prevalence-characteristics-and-significance-of-fetal-lateral-neck-cysts-detected-in-an-early-anatomical-scan
#3
Rivka Sukenik Halevy, Jordana Mashiach Friedler, Anat Hershko-Klement, Tal Biron-Shental, Ofer Markovitch, Ronnie Tepper
PURPOSE: This study evaluated the association of fetal lateral neck cysts (FLNC) with adverse pregnancy outcomes, in relation to specific sonographic characteristics and co-existing findings. METHODS: Pregnancies in which FLNC were detected by a single examiner in early anatomical scans (14-16 weeks) were included. Data regarding the pregnancy and its outcome were retrieved from telephone-based questionnaires, patient charts and from the examiner's reports. RESULTS: 654 cases of FLNC were detected among 9446 early anatomical scans (6...
April 3, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29611199/preliminary-study-of-protein-changes-in-trisomy-21-fetus-by-proteomics-analysis-in-amniocyte
#4
Hui Liu, He Wang, Zhu Hongmei, Haixia Zhang, Shanling Liu
OBJECTIVE: To discover the candidate biomarker proteins of trisomy 21 in amniocytes. METHODS: Amniocentesis was performed to collect AF from women who underwent prenatal diagnosis due to high risk of T21 at 18th -21st week of gestation. Amniocyte samples were collected and karyotyping analysis was used to confirm the chromosomal status (Eighteen samples of T21 amniocytes and twenty samples of chromosomally normal ones). Then backup samples for cytogenetic test were used in this study...
April 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29610688/prenatal-identification-and-molecular-characterization-of-two-simultaneous-de-novo-interstitial-duplications-of-chromosomal-regions-7p22-1p21-1-and-15q24-1
#5
Sabrina C Burn, Kali Swift, Maria Palmquist
The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. Cytogenetic analysis of cultured amniocytes by conventional chromosome analysis, comparative genomic hybridization, and fluorescence in situ hybridization revealed two interstitial duplications of the chromosomal regions 7p22...
2018: Case Reports in Genetics
https://www.readbyqxmd.com/read/29609228/-prenatal-diagnosis-of-women-with-an-adverse-reproductive-history-using-both-traditional-karyotyping-and-snp-array
#6
H S Yu, H Guo, S S Shen, X C Li, L P Zhang, X F Fan
Objective: To explore the occurrence of fetal chromosomal abnormalities among pregnant women with an adverse reproductive history using traditional karyotyping and single nucleotide polymorphism microarray (SNP-array) technology. Methods: Totally 94 in 2 163 (4.35%) cases of singleton pregnant women with an adverse reproductive history were performed amniocentesis in Jinhua Maternal and Child Health Care Hospital from June 2015 to June 2017. Traditional karyotyping and SNP-array were employed simultaneously for prenatal diagnosis, and the detection rates of the two methods were compared...
March 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29576035/cortisol-cortisone-and-bdnf-in-amniotic-fluid-in-the-second-trimester-of-pregnancy-effect-of-early-life-and-current-maternal-stress-and-socioeconomic-status
#7
Michael Deuschle, Ferdinand Hendlmeier, Stephanie Witt, Marcella Rietschel, Maria Gilles, Alberto Sánchez-Guijo, Lourdes Fañanas, Sabine Hentze, Stefan A Wudy, Rainer Hellweg
The prenatal environment shapes the offspring's phenotype; moreover, transgenerational stress and stress during pregnancy may play a role. Brain-derived neurotrophic factor (BDNF) and glucocorticoids influence neurodevelopment during pregnancy, and there is evidence that BDNF in amniotic fluid is mainly of fetal origin, while the source of glucocorticoids is maternal. We tested the hypothesis that maternal early life stress, psychiatric diagnoses, anxiety, perceived stress, and socioeconomic status influence BDNF and glucocorticoid concentrations in amniotic fluid in the second trimester...
March 26, 2018: Development and Psychopathology
https://www.readbyqxmd.com/read/29565194/survey-on-knowledge-attitude-acceptance-and-related-factors-among-pregnant-women-in-thailand-regarding-antenatal-thalassaemia-screening
#8
Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29550862/have-we-done-our-last-amniocentesis-updates-on-cell-free-dna-for-down-syndrome-screening
#9
REVIEW
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29549721/analysis-of-cytokines-ifn-%C3%AE-tnf-%C3%AE-tgf-%C3%AE-and-nitric-oxide-in-amniotic-fluid-and-serum-of-pregnant-women-with-toxoplasmosis-in-southern-brazil
#10
Ariella Andrade Marchioro, Cristiane Maria Colli, Carla Zangari de Souza, Suelen Santos da Silva, Bruna Tiaki Tiyo, Fernanda F Evangelista, Lourenco Higa, Ivete Conchon-Costa, Ana Lúcia Falavigna-Guilherme
This study detected and compared the levels of IFN-γ, TNF-α, TGF-β and nitric oxide (NO) in amniotic fluid (AF) and serum of pregnancies with acute toxoplasmosis, Southern Brazil. It also was compared the levels of the same mediators in the serum of pregnancies in acute and chronic toxoplasmosis with non-infected. Serological investigation, anti-T gondii IgM and IgG, of the 67 pregnancies was determined by Elisa MEIA. Forty two were uninfected, eight in chronic phase and 17 in acute phase. Among the acute phase, seven agreed to amniocentesis...
March 13, 2018: Cytokine
https://www.readbyqxmd.com/read/29545257/advanced-whole-genome-sequencing-and-analysis-of-fetal-genomes-from-amniotic-fluid
#11
Qing Mao, Robert Chin, Weiwei Xie, Yuqing Deng, Wenwei Zhang, Huixin Xu, Rebecca Yu Zhang, Quan Shi, Erin E Peters, Natali Gulbahce, Zhenyu Li, Fang Chen, Radoje Drmanac, Brock A Peters
BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. METHODS: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform...
March 15, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29539628/prenatal-abo-rhd-genotyping-a-new-paradigm-to-allow-for-fresh-whole-blood-for-cardiopulmonary-bypass-in-the-immediate-newborn-period
#12
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29516345/informed-decision-making-in-the-context-of-prenatal-chromosomal-microarray
#13
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29515049/human-amniotic-fluid-stem-cells-therapeutic-potential-for-perinatal-patients-with-intractable-neurological-disease
#14
Daigo Ochiai, Hirotaka Masuda, Yushi Abe, Toshimitsu Otani, Marie Fukutake, Tadashi Matsumoto, Kei Miyakoshi, Mamoru Tanaka
Mesenchymal stem cells (MSCs) have generated great interest in the fields of regenerative medicine and immunotherapy because of their unique biological properties. Among MSCs, amniotic fluid stem cells (AFS) have a number of characteristics that make them attractive candidates for tissue engineering and cell replacement strategies, particularly for perinatal medicine. If various neonatal conditions, including birth asphyxia, preterm birth, and congenital abnormalities, which result in long-lasting severe impairments, could be predicted during pregnancy, it would allow collection of small samples of amniotic fluid cells by amniocentesis...
March 6, 2018: Keio Journal of Medicine
https://www.readbyqxmd.com/read/29511239/-1-h-nmr-based-metabolomics-reveals-the-effect-of-maternal-habitual-dietary-patterns-on-human-amniotic-fluid-profile
#15
Maria Fotiou, Charalambos Fotakis, Foteini Tsakoumaki, Elpiniki Athanasiadou, Charikleia Kyrkou, Aristea Dimitropoulou, Thalia Tsiaka, Anastasia Chrysovalantou Chatziioannou, Kosmas Sarafidis, George Menexes, Georgios Theodoridis, Costas G Biliaderis, Panagiotis Zoumpoulakis, Apostolos P Athanasiadis, Alexandra-Maria Michaelidou
Maternal diet may influence offspring's health, even within well-nourished populations. Amniotic fluid (AF) provides a rational compartment for studies on fetal metabolism. Evidence in animal models indicates that maternal diet affects AF metabolic profile; however, data from human studies are scarce. Therefore, we have explored whether AF content may be influenced by maternal diet, using a validated food-frequency questionnaire and implementing NMR-based metabolomics. Sixty-five AF specimens, from women undergoing second-trimester amniocentesis for prenatal diagnosis, were analysed...
March 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29510647/the-genetic-and-clinical-outcome-of-isolated-fetal-muscular-ventricular-septal-defect-vsd
#16
Ran Svirsky, Dana Brabbing-Goldstein, Uri Rozovski, Livia Kapusta, Adi Reches, Yuval Yaron
INTRODUCTION: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). MATERIAL AND METHODS: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA)...
March 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29458885/prenatal-diagnosis-of-fetal-glutaric-aciduria-type-1-with-rare-compound-heterozygous-mutations-in-gcdh-gene
#17
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang
OBJECTIVE: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain atrophy, microencephalic macrocephaly, decreased coordination of swallowing, poor muscle coordination, spasticity, and severe dystonic movement disorder. CASE REPORT: A 22-year-old female, Gravida 4 Para 2, is pregnancy at 13 weeks of gestational age...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458884/late-onset-fetal-bilateral-pleural-effusions-associated-with-down-syndrome
#18
Shih-Ting Lai, Chih-Ping Chen, Chen-Ju Lin, Chin Yuan Hsu, Peih-Shan Wu, Chen Chi Lee, Chen Wen Pan, Wayseen Wang
OBJECTIVE: We present two cases of late-onset bilateral fetal pleural effusions associated with fetal Down syndrome. CASE REPORTS: Case 1. A 33-year-old Vietnamese woman had undergone regular sonographic examinations since 23 weeks of gestation and no abnormality had been noted. However, bilateral moderate pleural effusions were found at 33 weeks of gestation, and massive pleural effusion, ascites and polyhydramnios developed at 34 weeks of gestation. Aspiration of the pleural effusion was subsequently performed...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458882/prenatal-diagnosis-of-a-0-7-mb-17p13-3-microdeletion-encompassing-ywhae-and-crk-but-not-pafah1b1-in-a-fetus-without-ultrasound-abnormalities
#19
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar atrophy in the husband. Amniocentesis revealed a karyotype of 46,XX. Simultaneously array comparative genomic hybridization (aCGH) analysis (using 60,000 probes) revealed a 0...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458880/prenatal-diagnosis-of-hydrancephaly-and-enlarged-cerebellum-and-cisterna-magna-in-a-fetus-with-thanatophoric-dysplasia-type-ii-and-a-review-of-prenatal-diagnosis-of-brain-anomalies-associated-with-thanatophoric-dysplasia
#20
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD. CASE REPORT: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
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