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Amniotic fluid ultrasound

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https://www.readbyqxmd.com/read/28635180/renal-vascularization-indexes-and-fetal-hemodynamics-in-fetuses-with-growth-restriction
#1
Giovana Farina Doro, Janaína Campos Senra, Agatha Sacramento Rodrigues, Seizo Miyadahira, Renata Lopes Ribeiro, Rossana Pulcinelli Vieira, Lisandra Stein Bernardes
OBJECTIVE: To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD: Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were used to determine the renal vascular indexes and fetal and placental hemodynamics in fetuses below the 10(th) percentile for fetal weight. Partial correlation analysis (controlled for renal depth and gestational age) was performed...
June 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28611924/pcs-mva-syndrome-caused-by-an-alu-insertion-in-the-bub1b-gene
#2
Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki, Mamoru Ozaki, Masatoshi Yamaguchi, Hiroshi Sameshima, Hiroki Kurahashi
We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28604946/-application-of-chromosomal-microarray-analysis-in-prenatal-diagnosis-for-fetal-abnormalities-detected-by-ultrasonography
#3
Ting Hu, Jiamin Wang, Zhu Zhang, Hongmei Zhu, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography. METHODS: Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software. RESULTS: Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by 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/28600890/pilot-study-of-a-software-supported-protocol-for-second-trimester-ultrasound-screening
#4
Thierry Bultez, Jean-Pierre Bernard, Ulrike Metzger, Yves Ville, Laurent Julien Salomon
OBJECTIVES: To evaluate the feasibility and impact of using a software-supported protocol for routine second-trimester ultrasound scanning. METHODS: We conducted a comparative observational study of 2 sets of 25 randomly selected normal routine second-trimester examinations performed by the same expert sonographer before and 1 year after the introduction of a software-supported protocol. The scanning protocol was identical during both periods and conformed to International Society of Ultrasound in Obstetrics and Gynecology guidelines...
June 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28600484/perinatal-case-of-fatal-simpson-golabi-behmel-syndrome-with-hyperplasia-of-seminiferous-tubules
#5
Nives Zimmermann, Jerzy Stanek
BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges...
June 10, 2017: American Journal of Case Reports
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
#6
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/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
#7
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/28590142/intra-amniotic-soluble-endoglin-impairs-lung-development-in-neonatal-rats
#8
Santhosh T Somashekar, Ibrahim Sammour, Jian Huang, Juan Dominguez-Bendala, Ricardo Pastori, Silvia Alvarez-Cubela, Eneida Torres, Shu Wu, Karen C Young
Soluble endoglin (sENG) is increased in the amniotic fluid of mothers with pre-eclampsia and chorioamnionitis. Preterm infants born to mothers with these disorders have an increased risk of aberrant lung development. Whether this increased risk is secondary to elevated sENG levels is unclear. The objective of this study was to determine whether intrauterine exposure to an adenovirus over-expressing sENG impairs neonatal lung angiogenesis by modulating lung eNOS signaling. Pregnant Sprague-Dawley rats were randomly assigned to receive ultrasound guided intra-amniotic injections of adenovirus over-expressing sENG (Ad-sENG) or control adenovirus (Ad-control) on embryonic day 17 (E17)...
June 7, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28580571/ultrasound-guided-balloon-catheterisation-a-new-method-of-fetal-lower-urinary-tract-obstruction-management
#9
Marzena Dębska, Adam Koleśnik, Piotr Kretowicz, Anna Olędzka, Piotr Gastoł, Romuald Dębski
OBJECTIVES: Fetal lower urinary tract obstruction (LUTO), most often associated with presence of posterior urethral valves, poses high risk of perinatal mortality or postnatal renal failure. Looking for a method of causative treatment we have devel-oped a technique of fetal urethroplasty with a coronary angioplasty balloon catheter inserted under an ultrasonographic guidance via an 18-gauge needle introduced transabdominally to fetal bladder. MATERIAL AND METHODS: We have used this procedure in three women with singleton pregnancies (two primiparas and one multipara, 32-35 years of age), diagnosed with fetal megacystis at 12-16 weeks of gestation...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#10
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28556937/abnormal-fetal-findings-associated-with-a-global-sphericity-index-of-the-4-chamber-view-below-the-5th-centile
#11
Greggory R DeVore, Gary Satou, Mark Sklansky
OBJECTIVES: The purpose of this study was to evaluate the global sphericity index (GSI) of the 4-chamber view and correlate the results with abnormal ultrasound findings. METHODS: The epicardial end-diastolic basal-apical length (BAL) and transverse length (TL) of the 4-chamber view were measured to compute the GSI (BAL/TL) in 200 control fetuses between 20 and 40 weeks' gestation. Three hundred study fetuses were prospectively examined between 17 and 39 weeks' gestation...
May 30, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28549467/the-prediction-diagnosis-and-management-of-complications-in-monochorionic-twin-pregnancies-the-ommit-optimal-management-of-monochorionic-twins-study
#12
Fiona L Mackie, R Katie Morris, Mark D Kilby
BACKGROUND: Monochorionic twin pregnancies are at increased risk of complications due to sharing a single placenta and potentially developing unbalanced vascular anastomoses. Complications include twin-twin transfusion syndrome (TTTS) which affects 10-15% monochorionic twins, and if untreated has a 70-90% perinatal loss rate. We are currently unable to predict which twins will develop complications or to what severity. We have previously shown differences in angiogenic and placental growth factors in maternal blood in pregnancies complicated by TTTS compared to twin pregnancies not complicated by TTTS but matched for gestation...
May 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28545266/-analysis-of-misssed-diagnosis-and-misdiagnosis-of-1-212-cases-with-placental-abruption
#13
D Xu, C Liang, J W Xu, J He
Objective: To investigate the risk factors and clinical manifestations of placental abruption, and to analyze the causes of missed diagnosis and misdiagnosis. Methods: A retrospective analysis was conducted in 135 584 women who delivered in Women's Hospital, School of Medicine, Zhejiang University from January 2005 to December 2015. The diagnosis of placental abruption was made in 1 212 cases. According to the consistency of prenatal and postnatal diagnosis, they were divided into 3 groups. (1) The diagnosis was consistent prenatally and postnatally in 715 cases(58...
May 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28545116/n-terminal-pro-b-type-natriuretic-peptide-in-amniotic-fluid-of-fetuses-with-known-or-suspected-cardiac-load
#14
Christina Leufgen, Ulrich Gembruch, Birgit Stoffel-Wagner, Rolf Fimmers, Waltraut M Merz
BACKGROUND: Myocardial dysfunction occurs in a variety of fetal disorders. Findings from adult cardiology, where n-terminal pro-B-type natriuretic peptide (nt-proBNP) is an established biomarker of left ventricular dysfunction have been extended to fetal life. Since fetal blood sampling is technically challenging we investigated amniotic fluid nt-proBNP for its suitability to diagnose fetal myocardial dysfunction. METHODS: Ultrasound, Doppler examination and echocardiography was applied to classify cases and controls...
2017: PloS One
https://www.readbyqxmd.com/read/28503779/normal-amniotic-fluid-volume-across-gestation-comparison-of-statistical-approaches-in-1190-normal-amniotic-fluid-volumes
#15
Songthip T Ounpraseuth, Everett F Magann, Horace J Spencer, Nader Z Rabie, Adam T Sandlin
AIM: Ultrasound estimation and evaluation of amniotic fluid volume (AFV) is an important component of pregnancy surveillance and fetal well-being. The purpose of this study was to compare and contrast four statistical methods used to construct gestational age-specific reference intervals for the assessment of AFV. METHODS: A total of 1095 normal AFV derived from four studies that measured AFV using dye-dilution or direct measurement at the time of hysterotomy were used to construct reference intervals using polynomial regression, quantile regression, Royston and Wright mean and SD, and Cole's lambda mu sigma (LMS) methods...
May 15, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28484292/correlation-of-oxidative-stress-markers-with-ultrasound-and-cardiotocography-parameters-with-hypertension-induced-pregnancy
#16
Dragica Draganovic, Nenad Lucic, Dragica Jojic, Snjezana Milicevic
INTRODUCTION: Pregnancy induced hypertension (PIH), especially preeclampsia, is a state of extremely increased oxidative stress (OS), due to decrease of antioxidant capacity in comparison to normotensive pregnant women. The consequences of increased state of oxidative stress with hypertension disorder in pregnancy are disorder of placental blood flow, intrauterine hypoxia of the fetus and disturbance in transfer of O2 manifested as pathological ultrasound (US) parameters (amount of amniotic fluid and biophysical profile of fetus) and cardiotocography parameters (CTG)...
March 2017: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/28455084/recipient-umbilical-artery-elongation-redundancy-in-twin-twin-transfusion-syndrome
#17
Roopali Donepudi, Lovepreet K Mann, Christoph Wohlmuth, Anthony Johnson, Michael W Bebbington, Kenneth J Moise, David S Boudreaux, Helena Gardiner, Ramesha Papanna
BACKGROUND: Chronic hypertension in adults causes arterial lengthening in major arteries, but the effects of early fetal hypertension on the twin-twin transfusion syndrome recipient's vascular architecture remains unknown. OBJECTIVE: We hypothesize that arterial cord redundancy is related to recipient hypertension and subsequent heart failure. Our objectives were to: (1) establish a 3-dimensional color Doppler ultrasound method of measuring umbilical arterial length relative to its corresponding venous segment in the umbilical cord using artery vein angle; (2) compare recipient artery vein angle to gestational age-matched controls; and (3) test the association of artery vein angle with recipient heart failure...
April 25, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28443480/adverse-placental-perfusion-and-pregnancy-outcomes-in-a-new-nonhuman-primate-model-of-gestational-protein-restriction
#18
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/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#19
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/28397227/-prenatal-diagnosis-and-follow-up-of-a-case-with-lowe-syndrome-caused-by-interstitial-deletion-of-xq25-26
#20
Xiangyu Zhu, Jie Li, Tong Ru, Ruifang Zhu, Chenyan Dai, Wanjun Wang, Yali Hu
OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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