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Amniocentesis

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https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#1
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#2
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28612638/should-isolated-fetal-ventriculomegaly-measured-below-12%C3%A2-mm-be-viewed-as-a-variant-of-the-norm-results-of-a-5-year-experience-in-a-prenatal-referral-center
#3
Anaïs Lavongtheung, Guillaume Jedraszak, Philippe Naepels, Pierre Tourneux, Catherine Gondry-Jouet, Anne-Gaëlle L E Moing, Jean Gondry, Julien Chevreau
BACKGROUND: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM < 12 mm are variants of the norm and needn't be addressed for referral ultrasound. METHODS: A retrospective continuous cohort study of 127 confirmed fetal VM was divided in 3 groups after initial referral sonographic assessment: isolated VM < 12 mm (group A), isolated VM ≥ 12 mm (group B), and VM associated with other malformations (group C)...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28608970/effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years
#4
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
OBJECTIVE: To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies. METHODS: The present observational study examined data from genetic counseling sessions performed at the 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary, between September 1, 2013, and September 1, 2015, and retrieved data on patients of advanced maternal age (≥35 years) who had fetal trisomy 21, 18, or 13 confirmed...
June 13, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28604969/-genetic-study-of-a-fetus-with-9p-direct-duplication-deletion-syndrome
#5
Shanshan Shi, Shaobin Lin, Xiangying Lou, Weijing Li
OBJECTIVE: To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism. METHODS: A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping. RESULTS: Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604949/-the-value-of-a-novel-prenatal-diagnosis-model-with-combination-of-karyotyping-and-bacs-on-beads-tm-technique
#6
Kai Mou, Yi Liu, Xin Wei
OBJECTIVE: To explore the value of a novel prenatal diagnosis model using combined chromosomal karyotyping and BACs-on-Beads(TM)(BoBs), a newly-developed technique. METHODS: 1048 single pregnancy pregnant women with various diagnostic indications were performed amniocentesis for prenatal diagnosis with karyotyping and BoBs simultaneously. RESULTS: Among 1047 successfully cultured specimens, 50 chromosomal abnormalities were identified with BoBs, including 43 common chromosomal trisomies, 3 chimeric chromosomes and 4 structural abnormalities, of which 3 microdeletions/microduplications were not detected with karyotyping...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#7
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600059/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-2q-2q31-1-q32-1-encompassing-hoxd13-znf385b-and-znf804a-associated-with-syndactyly-and-increased-first-trimester-nuchal-translucency
#8
Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype-phenotype correlation. CASE REPORT: A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic counseling because of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1). She underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and an increased first-trimester nuchal translucency (NT) thickness of 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600058/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-11
#9
Chih-Ping Chen, Ming Chen, Pu-Tsui Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Shun-Ping Chang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. CASE REPORT: A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600057/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-20p-20p12-p13-encompassing-jag1-and-a-literature-review-of-prenatal-diagnosis-of-alagille-syndrome
#10
Chih-Ping Chen, Chang-Sheng Yin, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS). CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#11
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28585848/-ultrasound-diagnosis-of-fetal-inflammatory-response-syndrome-in-women-with-preterm-premature-rupture-of-membrane
#12
R Špaček, I Musilová, K Magdová, O Šimetka, M Kacerovský
OBJECTIVE: The aim of this review is to analyze the existing possibilities of using ultrasound in the diagnosis of the fetal inflammatory response. DESIGN: Review. SETTINGS: Gynekologicko-porodnická klinika, Fakultní nemocnice Ostrava. METHODS: Preterm delivery is defined as a delivery before completed 37 weeks of gestation. Approximately one-thirdof these cases is associated with preterm premature rupture of membranes...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28585708/the-cytokine-network-in-women-with-an-asymptomatic-short-cervix-and-the-risk-of-preterm-delivery
#13
Adi L Tarca, Wendy Fitzgerald, Piya Chaemsaithong, Zhonghui Xu, Sonia S Hassan, Jean-Charles Grivel, Nardhy Gomez-Lopez, Bogdan Panaitescu, Percy Pacora, Eli Maymon, Offer Erez, Leonid Margolis, Roberto Romero
PROBLEM: To characterize the amniotic fluid (AF) inflammatory-related protein (IRP) network in patients with a sonographic short cervix (SCx) and to determine its relation to early preterm delivery (ePTD). METHOD OF STUDY: A retrospective cohort study included women with a SCx (≤25 mm; n=223) who had amniocentesis and were classified according to gestational age (GA) at diagnosis and delivery (ePTD <32 weeks of gestation). RESULTS: (i) In women with a SCx ≤ 22 1/7 weeks, the concentration of most IRPs increased as the cervix shortened; those with ePTD had a higher rate of increase in MIP-1α, MCP-1, and IL-6 concentrations than those delivering later; and (ii) the concentration of most IRPs and the correlation between several IRP pairs were higher in the ePTD group than for those delivering later...
June 6, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28571656/development-of-a-novel-method-for-amniotic-fluid-stem-cell-storage
#14
Manuela Zavatti, Francesca Beretti, Francesca Casciaro, Giuseppina Comitini, Fabrizia Franchi, Veronica Barbieri, Laura Bertoni, Anto De Pol, Giovanni B La Sala, Tullia Maraldi
BACKGROUND AIMS: Current procedures for collection of human amniotic fluid stem cells (hAFSCs) indicate that cells cultured in a flask for 2 weeks can then be used for research. However, hAFSCs can be retrieved directly from a small amount of amniotic fluid that can be obtained at the time of diagnostic amniocentesis. The aim of this study was to determine whether direct freezing of amniotic fluid cells is able to maintain or improve the potential of a sub-population of stem cells. METHODS: We compared the potential of the hAFSCs regarding timing of freezing, cells obtained directly from amniotic fluid aspiration (D samples) and cells cultured in a flask before freezing (C samples)...
May 29, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28569377/testing-for-noonan-syndrome-after-increased-nuchal-translucency
#15
Marwan M Ali, Stephen T Chasen, Mary E Norton
OBJECTIVE: The aim of this study was to report the prevalence of NS in a cohort of fetuses that presented with increased NT thickness in the first trimester of pregnancy. METHODS: This is a retrospective chart review. INCLUSION CRITERIA: 1. First trimester NT measurement ≥ 3 mm 2. Normal karyotype by either a CVS or an amniocentesis procedure 3. Prenatal molecular genetic testing for NS completed. Results with known pathogenic variants were considered positive, while those with variants of unknown clinical significance, or with no variants were considered negative...
June 1, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28568170/diagnostic-accuracy-work-up-and-outcomes-of-pregnancies-with-clubfoot-detected-by-prenatal-sonography
#16
Maya Sharon-Weiner, Rivka Sukenik-Halevy, Ronnie Tepper, Ami Fishman, Tal Biron-Shental, Ofer Markovitch
OBJECTIVE: To assess diagnostic accuracy, related findings and outcomes of fetuses with clubfoot. METHODS: Sonographic characteristics, pregnancy work-up and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS: Among 40,320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109(46.7%) fetuses and unilateral in 58/109(53...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28540575/the-yield-and-complications-of-amniocentesis-performed-after-24-weeks-of-gestation
#17
Keren Tzadikevitch Geffen, Ohad Ben-Zvi, Omer Weitzner, Amir Peleg, Tal Biron-Shental, Rivka Sukenik-Halevy
PURPOSE: This study assessed the use and complications of late amniocentesis (AC) and analyzed factors that affect complication rate. METHODS: A retrospective analysis of 167 genetic AC performed after 24 weeks during a 10-year period in two medical centers was conducted. Data regarding the indications for AC, genetic work-up, and pregnancy outcomes were retrieved from patient medical records and telephone-based questionnaires. RESULTS: Mean gestational age (GA) at the time of AC was 31...
May 24, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28536688/isolated-fetal-lymphatic-malformation-of-the-thigh-prenatal-diagnosis-and-follow-up
#18
Huseyin Durukan, İlay Gözükara, Murside Cevikoglu, Talat Umut Kutlu Dilek
Fetal lymphatic malformation can be found in different parts of the fetal body. It occurs most frequently in the nuchal and axillary region and less frequently in the abdomen or inguinal areas. Lymphatic malformation has been associated with fetal aneuploidy, hydrops fetalis, structural malformations, and intrauterine fetal death. A 31-year-old gravida 3, para 2 woman was admitted to our hospital at 22 weeks of gestation (confirmed by ultrasonographic examination). The fetus was alive, and had a mass derived from the left inguinal region extending to the anterior left leg with fluid-filled cavities about 3-5 cm in size...
January 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28535192/learning-through-chain-event-graphs-the-role-of-maternal-factors-in-childhood-type-i-diabetes
#19
Claire Keeble, Peter Adam Thwaites, Paul David Baxter, Stuart Barber Pgclthe, Roger Charles Parslow, Graham Richard Law
Chain event graphs are a graphical representation of a statistical model derived from event trees, previously applied to cohort studies but not to case-control studies. We apply the chain event graph framework to a Yorkshire case-control study of childhood type I diabetes, to examine four exposure variables associated with the mother, three of which are fully observed (her school-leaving-age, amniocenteses during pregnancy and delivery type) and one with missing values (her rhesus factor), while incorporating previous type I diabetes knowledge...
May 23, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28499674/-training-of-residents-in-amniocentesis-effectiveness-of-a-craft-simulator
#20
A Cazaux, R Callec, E Gauchotte, R Sataf, E Perdriolle, O Morel
OBJECTIVE: This prospective study aims to assess a low fidelity simulation device for learning amniocentesis to gynecology-obstetrics residents. METHODS: From 2013 to 2016, gynecology-obstetrics residents of all levels, from the maternity of Nancy hospital, which have already performed amniocentesis or not, participated in amniocentesis training on an artisanal simulator. Residents were evaluated on the amniocentesis simulator according to seven quality criteria...
May 9, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
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