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Amniocentesis

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https://www.readbyqxmd.com/read/28443480/adverse-placental-perfusion-and-pregnancy-outcomes-in-a-new-nonhuman-primate-model-of-gestational-protein-restriction
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28402981/prenatal-nonvisualization-of-the-gallbladder-a-diagnostic-and-prognostic-dilemma
#11
Aina Ruiz, Ana Robles, Francisca Salva, Ana Filgueira, Cristina Díaz, Miquel Juan, Albert Tubau
INTRODUCTION: Nonvisualization of the fetal gallbladder has been associated with benign conditions such as isolated gallbladder agenesis or severe diseases such as biliary atresia (BA). Recently, gamma-glutamyl transpeptidase (GGTP) fetal blood levels were reported as useful after 22 weeks. OBJECTIVE: To determine the contribution of fetal blood GGTP levels after 22 weeks, based on 2 cases. Case 1: 20+4-week secundipara, with subcutaneous edema and pleural effusion...
April 13, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#12
Kalinga Khemal Nanayakkara, Undugodage Ganganath Rodrigo, Kuda Liyanage Nandika Perera, Chinthani Deepthi Nanayakkara
Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners...
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28397229/-prenatal-diagnosis-of-a-rare-case-of-7q11-23-duplication-syndrome
#13
Guangjuan Ma, Yulin Jiang, Zhen Yu, Wencheng Dai, Ning Liu, Huijun Li, Gulinazi Mijiti
OBJECTIVE: To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication. METHODS: Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28391132/antenatal-prognostic-factor-of-fetal-echogenic-bowel
#14
Candice Ronin, Pierre Mace, Fabien Stenard, Anderson Loundou, Marianne Capelle, Isabelle Mortier, Marie Christine Pellissier, Sabine Sigaudy, Annie Levy, Claude D'ercole, Pascale Hoffmann, Thierry Merrot, Jonathan Lopater, Pascal De Lagausie, Nicole Philip, Florence Bretelle
OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Associated echographic findings such as bowel dilations, gallbladder abnormalities, calcifications, extra-abdominal abnormalities, intrauterine growth restriction (IUGR) and a decrease in amniotic fluid volume, if present were also recorded...
May 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28376638/transabdominal-collection-of-amniotic-fluid-sludge-and-identification-of-candida-albicans-intra-amniotic-infection
#15
Juan P Kusanovic, Roberto Romero, Carolina Martinovic, Karla Silva, Offer Erez, Eli Maymon, Francisco Díaz, Fernando Ferrer, Rafael Valdés, Víctor Córdova, Paula Vargas, María Elena Nilo, Patricio Le Cerf
A G3P2 patient who conceived with an intrauterine contraceptive device (IUD) presented at 20 weeks of gestation with mild irregular uterine contractions and vaginal bleeding. Sonographic examination at admission showed the presence of dense amniotic fluid "sludge" and a long sonographic uterine cervix (42 mms). To assess the microbiologic significance of amniotic fluid "sludge", we performed a transabdominal amniocentesis. The procedure was performed under real-time ultrasound, and fluid resembling pus at gross examination was noted...
April 5, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28363925/methods-to-decrease-variability-in-histological-scoring-in-placentas-from-a-cohort-of-preterm-infants
#16
Jennifer K Straughen, Dawn P Misra, Linda M Ernst, Adrian K Charles, Samantha VanHorn, Samiran Ghosh, Irina Buhimschi, Catalin Buhimschi, George Divine, Carolyn M Salafia
OBJECTIVE: Reliable semiquantitative assessment of histological placental acute inflammation is problematic, even among experts. Tissue samples in histology slides often show variability in the extent and location of neutrophil infiltrates. We sought to determine whether the variability in pathologists' scoring of neutrophil infiltrates in the placenta could be reduced by the use of 'regions of interest' (ROIs) that break the sample into smaller components. DESIGN: ROIs were identified within stained H&E slides from a cohort of 56 women...
March 31, 2017: BMJ Open
https://www.readbyqxmd.com/read/28359305/antenatal-nephromegaly-and-propionic-acidemia-a-case-report
#17
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel
BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION: We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28358839/frequency-and-clinical-significance-of-short-cervix-in-patients-with-preterm-premature-rupture-of-membranes
#18
Seung Mi Lee, Kyo Hoon Park, Eun Young Jung, Ji Ae Jang, Ha-Na Yoo
OBJECTIVE: Cervical length measurement has been uggested as a useful tool for predicting intra-amniotic infection/inflammation in preterm labor, but little information is available in the setting of preterm premature rupture of membranes (pPROM). We aimed to determine whether a short cervical length is independently associated with an increased risk of intra-amniotic infection or inflammation and impending preterm delivery in women with pPROM. METHODS: This was a retrospective cohort study involving 171 consecutive singleton pregnant women with pPROM (21+0-33+6 weeks' gestation), who underwent amniocentesis...
2017: PloS One
https://www.readbyqxmd.com/read/28350837/semaphorin-3f-expression-is-reduced-in-pregnancy-complicated-by-preeclampsia-an-observational-clinical-study
#19
Giovanni Stallone, Maria Matteo, Giuseppe Stefano Netti, Barbara Infante, Adelaide Di Lorenzo, Clelia Prattichizzo, Stefania Carlucci, Federica Trezza, Loreto Gesualdo, Pantaleo Greco, Giuseppe Grandaliano
BACKGROUND AND OBJECTIVE: Preeclampsia is a systemic disorder, affecting 2-10% of pregnancies, characterized by a deregulated pro- and anti-angiogenic balance. Semaphorin 3F is an angiogenesis inhibitor. We aimed to investigate whether semaphorin 3F expression is modulated in preeclampsia. DESIGN, SETTING, PARTICIPANTS, AND MEASUREMENTS: We performed two observational single center cohort studies between March 2013 and August 2014. In the first we enrolled 110 consecutive women, undergoing an elective cesarean section; in the second we included 150 consecutive women undergoing amniocentesis for routine clinical indications at 16-18 week of gestation...
2017: PloS One
https://www.readbyqxmd.com/read/28347187/second-trimester-amniotic-fluid-corticotropin-releasing-hormone-and-urocortin-in-relation-to-maternal-stress-and-fetal-growth-in-human-pregnancy
#20
Pearl La Marca-Ghaemmaghami, Sara M Dainese, Günter Stalla, Marina Haller, Roland Zimmermann, Ulrike Ehlert
This study explored the association between the acute psychobiological stress response, chronic social overload and amniotic fluid corticotropin corticotropin-releasing hormone (CRH) and urocortin (UCN) in 34 healthy, second-trimester pregnant women undergoing amniocentesis. The study further examined the predictive value of second-trimester amniotic fluid CRH and UCN for fetal growth and neonatal birth outcome. The amniocentesis served as a naturalistic stressor, during which maternal state anxiety and salivary cortisol was measured repeatedly and an aliquot of amniotic fluid was collected...
March 27, 2017: Stress: the International Journal on the Biology of Stress
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