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Amniocentesis

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https://www.readbyqxmd.com/read/28535192/learning-through-chain-event-graphs-the-role-of-maternal-factors-in-childhood-type-i-diabetes
#1
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
#2
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
https://www.readbyqxmd.com/read/28499534/prenatal-diagnosis-screening-and-diagnostic-tools
#3
REVIEW
Laura M Carlson, Neeta L Vora
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are available to patients based on their risk profile and gestational age. Screening options include traditional serum analyte screening, such as first-trimester screening or quadruple screening, and more recently, cell-free DNA. Diagnostic testing choices include chorionic villus sampling and amniocentesis. The number of screening and diagnostic modalities complicates prenatal counseling for physicians and can be difficult for patients to grasp...
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28487795/sequence-and-timing-of-intracranial-changes-in-cytomegalovirus-in-pregnancy-a-case-report-and-literature-review
#4
Cynthia O'Sullivan, Shankari Arulkumaran, Lorin Lakasing, Eric Jauniaux, Karl Murphy
Cytomegalovirus (CMV) is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2), with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28486367/intra-amniotic-dye-alternatives-for-the-diagnosis-of-preterm-prelabor-rupture-of-membranes
#5
Kayla E Ireland, Emma I Rodriguez, Ometeotl M Acosta, Patrick S Ramsey
Intra-amniotic dye instillation is a useful tool for evaluation of equivocal cases of preterm prelabor rupture of membranes and for genetic amniocentesis in multifetal gestation. Indigo carmine, the most used and studied dye, is no longer available. We sought to provide a resource of potential dyes for clinical use that summarizes dosing along with maternal, fetal, and neonatal outcomes. We reviewed the literature evaluating the use of alternative agents. Sodium fluorescein has proven clinical usefulness but has side effects when used intravenously...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28485265/massively-parallel-sequencing-mps-of-cell-free-fetal-dna-cffdna-for-trisomies-21-18-and-13-in-twin-pregnancies
#6
Erqiu Du, Chun Feng, Yuming Cao, Yanru Yao, Jing Lu, Yuanzhen Zhang
Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton pregnancies. This study assessed the performance of MPS testing of cell-free fetal DNA (cffDNA) from maternal plasma for trisomies 21, 18, and 13 in twin pregnancies. Ninety-two women with twin pregnancies were recruited. The results were identified through karyotypes of amniocentesis or clinical examination and follow-up of the neonates. Fluorescent in-situ hybridization was used to examine the placentas postnatally in cases of false-positive results...
May 9, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28475388/natural-history-of-fetal-isolated-ventriculomegaly-comparison-between-pre-and-post-natal-imaging
#7
Sharon Perlman, Omer Bar-Yosef, Jeffrey-Michael Jacobson, Yinon Gilboa, Estela Derazne, Reuven Achiron, Eldad Katorza
Purpose - The aim of our study was to assess the agreement between pre- and post-natal measurements in prenatal isolated ventriculomegaly. Methods - Ninety-two women were referred for lateral ventricular abnormality and followed prospectively. Cases with at least one dilated lateral ventricle ≥ 10 mm and a normal work up (serological tests, detailed anatomical scan, fetal brain MR imaging, genetic counseling and amniocentesis) were considered idiopathic ventriculomegaly and comprised the study group for post-natal follow up...
May 5, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28463390/sfog-ger-nationella-riktlinjer-f%C3%A3-r-fosterdiagnostik-med-nipt-information-genetisk-v%C3%A3-gledning-och-informerat-val-grunden-f%C3%A3-r-analys-av-foster-dna-i-blodprov-fr%C3%A3-n-kvinnan
#8
Charlotta Ingvoldstad Malmgren, Erik Iwarsson, Niklas Juth, Peter Lindgren
NIPT - implentation, counselling and ethical issues It is today possible to analyze cell-free fetal DNA from a blood sample from the pregnant woman, i.e. non-invasive prenatal testing, NIPT. Thus, by a simple blood test from the mother you can detect trisomy 13, 18 and 21 in the fetus with high accuracy. However, NIPT is not a diagnostic test and a positive result should be confirmed by an invasive test, like chorionic villus sampling or amniocentesis. There are national guidelines from the Swedish Society of Obstetrics and Gynaecology (SFOG) on how to implement and use NIPT for trisomies in the Swedish health care...
May 2, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28459702/report-of-a-triploid-fetus-identified-in-a-pregnancy-with-oligohydramnios
#9
Ghanbarian Alavijeh Maryam, Saber Siamak, Fazeli Bavand-Pour Fatemeh Sadat, Mirzaloo Masoud, Mirzaie Fatemeh, Zare-Abdollahi Davood, Ebrahimi Ahmad
This report describes a pregnancy with a triploid fetus identified from a scan for anomalies at 18 weeks and confirmed by amniocentesis. A 29-year-old, primigravida woman was referred to our clinic for genetic counseling at 18 weeks of gestation because of a mild oligohydramnios due to amniotic fluid index (AFI) less than the fifth percentile in her 18th week. The woman underwent amniocentesis, which revealed a karyotype of 69,XXX. There was no consanguinity in this family. In postmortem evaluation, we encountered a hydrocephalic fetus with an aberrant skull shape, including dysplastic calvaria with large posterior fontanel, marked intrauterine growth retardation (IUGR) in addition to syndactyly of third and fourth fingers, exophthalmia, cleft palate, low set malformed ears, micrognathia and club foot...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28453379/pseudoamniotic-band-syndrome-post-fetal-thoracoamniotic-shunting-for-bilateral-hydrothorax
#10
Michelle Han, Yalda Afshar, Andrew H Chon, Emily Scibetta, Rashmi Rao, Ramen H Chmait
INTRODUCTION: Pseudoamniotic band syndrome (PABS) occurs iatrogenically after fetal surgery or amniocentesis due to chorioamniotic membrane separation. Separation of the amnion from the chorion can expand to form fibrous amniotic bands that can envelope fetal limbs or the umbilical cord, with consequences ranging from limb constriction to fetal demise. CASE REPORT: We report a case of bilateral fetal pleural effusions at 27 weeks' gestation treated by bilateral thoracoamniotic shunts...
April 28, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28443480/adverse-placental-perfusion-and-pregnancy-outcomes-in-a-new-nonhuman-primate-model-of-gestational-protein-restriction
#11
Victoria H J Roberts, Jamie O Lo, Katherine S Lewandowski, Peter Blundell, Kevin L Grove, Christopher D Kroenke, Elinor L Sullivan, Charles T Roberts, Antonio E Frias
Maternal malnutrition during pregnancy impacts fetal growth, with developmental consequences that extend to later life outcomes. In underdeveloped countries, this malnutrition typically takes the form of poor dietary protein content and quality, even if adequate calories are consumed. Here, we report the establishment of a nonhuman primate model of gestational protein restriction (PR) in order to understand how placental function and pregnancy outcomes are affected by protein deficiency. Rhesus macaques were assigned to either a control diet containing 26% protein or switched to a 13% PR diet prior to conception and maintained on this PR diet throughout pregnancy...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28441952/management-of-suspected-primary-toxoplasma-gondii-infection-in-pregnant-women-in-norway-twenty-years-of-experience-of-amniocentesis-in-a-low-prevalence-population
#12
Gry Findal, Anne Helbig, Guttorm Haugen, Pål A Jenum, Babill Stray-Pedersen
BACKGROUND: Primary infection with Toxoplasma gondii during pregnancy may pose a threat to the fetus. Women infected prior to conception are unlikely to transmit the parasite to the fetus. If maternal serology indicates a possible primary infection, amniocentesis for toxoplasma PCR analysis is performed and antiparasitic treatment given. However, discriminating between primary and latent infection is challenging and unnecessary amniocenteses may occur. Procedure-related fetal loss after amniocentesis is of concern...
April 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28429364/application-of-gene-detection-technique-in-the-antenatal-diagnosis-of-hereditary-hearing-loss
#13
Y Fang, M-S Gu, F Suo, C-X Wang, X-H Liu, F-M Liu
OBJECTIVE: Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss. PATIENTS AND METHODS: From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299) in GJB2 gene, 2 sites (2168A>G and IVS-7-2A>G) in SLC26A4 (PDS) gene, 2 sites (1494C>T and 1555A>G) in 12s rRNA gene and 1 site (538C>T) in GJB3 gene, were detected using the GeeDom® 9-item hereditary hearing loss gene detection kit...
April 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28420524/prenatal-diagnosis-of-mosaicism-for-trisomy-15-in-a-single-colony-at-amniocentesis-with-a-favorable-fetal-outcome
#14
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420516/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of%C3%A2-low-level-mosaic-trisomy-12-at-amniocentesis-associated-with%C3%A2-a%C3%A2-favorable-pregnancy-outcome
#15
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 12. CASE REPORT: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes detected 23 cells with trisomy 12 consistent with 20...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420515/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-2
#16
Chih-Ping Chen, Ming Chen, Shun-Ping Chang, Fang-Yu Hung, Meng-Ju Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 2. CASE REPORT: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[10]/46,XY[12]. The parental karyotypes were normal. Array comparative genomic hybridization analysis of the DNA extracted from cultured amniocytes revealed no genomic imbalance...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420514/detection-of-mosaic-15q11-1-q11-2-deletion-encompassing-nbeap1-and%C3%A2-poteb-in-a-fetus-with-diffuse-lymphangiomatosis
#17
Chih-Ping Chen, Kuo-Gon Wang, Hsu-Kuang Huang, Cheng-Ran Peng, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present cytogenetic and molecular cytogenetic diagnoses of mosaic deletion of chromosome 15q11.1-q11.2 in a fetus with diffuse lymphangiomatosis. CASE REPORT: A 33-year-old woman underwent amniocentesis at 22 weeks of gestation because of fetal diffuse lymphangiomatosis involving left-side chest, abdominal cavity, thigh and vulva, and intrauterine growth restriction. Amniocentesis revealed a karyotype of 46,XX,del(15) (q11.1q11.2)[9]/46,XX[26]. The mother had a karyotype of 46,XX...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420513/euchromatic-variants-of-8q21-2-in-twins
#18
Xiao-Hui Song, Hui-Kuo Hsu, Mei-Tsz Su, Tai-Sheng Chang, Piing Yuh Su, Ming Chen, Pao-Lin Kuo
OBJECTIVE: Euchromatic variants (EVs) of 8q21.2 are extremely rare chromosomal abnormalities. So, far there have only been two reports on EVs of 8q21.2. Here, we report an 8q21.2 EV detected in cultured amniotic-fluid cells of twins. It was later found to be inherited from the mother, who did not present with abnormal phenotypes. CASE REPORT: A pregnant woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was monozygotic twins conceived naturally...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420511/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-concomitant-familial-small-supernumerary-marker-chromosome-derived-from-chromosome-4q-4q11-1-q13-2-and-5q13-2-microdeletion-with-no-apparent-phenotypic-abnormality
#19
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1-q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic abnormality. MATERIALS AND METHODS: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of absent nasal bone on fetal ultrasound. Amniocentesis revealed a karyotype of 47,XX,+mar[13]/46,XX[3]. Array comparative genomic hybridization analysis on the cultured amniocytes revealed a 2...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#20
Yoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, Marilyn C Jones, Elise Housman, Dawn Engelkemier, Lorene E Romine, Paritosh C Khanna, Dolores H Pretorius
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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