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Genetic sonogram

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https://www.readbyqxmd.com/read/27647145/ep12-02-extending-the-window-for-genetic-screening-sonograms-needs-assessment-for-an-ultrasound-based-down-s-syndrome-risk-model-up-to-24-weeks-gestation
#1
C B Hertenstein, K Blakemore, D L Hertenstein, C Lawson, V Corson, K Rock, K G Sagaser, J Crino
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27453585/2d-and-3d-ultrasonographic-evaluation-of-fetal-midface-hypoplasia-in-two-cases-with-3-m-syndrome
#2
A Vimercati, A Chincoli, A C de Gennaro, V DʼAddario, E Cicinelli
This paper highlights the utility of 2D and 3D ultrasonography in the prenatal diagnosis of facial dysmorphisms suggestive of very rare syndromes such as 3-M syndrome. Two pregnant women at risk for fetal skeletal dysplasias were referred to our clinic for 2D/3D ultrasound scan in the second trimester of pregnancy. Only one of the patients had a familial history of 3-M syndrome. Karyotyping and genetic testing of abortion material were performed in both cases. 2D ultrasonography revealed growth retardation of the long bones in both cases...
July 2016: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/26939972/primary-hypertrophic-osteoarthropathy-ultrasound-and-mri-findings
#3
REVIEW
Brook Adams, Tania Amin, Valentina Leone, Mark Wood, Jeannette K Kraft
Primary hypertrophic osteoarthropathy is a rare genetic disorder related to failures in prostaglandin metabolism. Patients present with joint pain, limb enlargement, skin thickening and finger clubbing. Radiographs show characteristic periosteal reaction and thickening along the long bones. We present MRI and US findings in a child with the condition. Ultrasound showed echogenic tissue surrounding the long bones, presumably reflecting oedema and inflammatory tissue. Doppler sonograms demonstrated increased vascularity on the surface of some superficial bony structures...
May 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/26932755/improving-the-ultrasound-detection-of-isolated-fetal-limb-abnormalities
#4
Maria Andrikopoulou, Sevan A Vahanian, Martin R Chavez, Jean Murphy, Nazeeh Hanna, Anthony M Vintzileos
OBJECTIVE: The prenatal detection rate of isolated fetal limb abnormalities ranges from 4 to 29.5%. Our aim was to determine the accuracy of a detailed ultrasound protocol in detecting isolated fetal limb abnormalities Methods: This is a retrospective study of infants born at our institution with isolated limb defects from 2009 to 2014. Antepartum and postpartum records were reviewed for genetic testing results. We routinely image both upper and lower extremities, including all long bones, hands, feet, fingers and toes...
March 29, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26379755/visualizing-sound-counting-wolves-by-using-a-spectral-view-of-the-chorus-howling
#5
Daniela Passilongo, Luca Mattioli, Elena Bassi, László Szabó, Marco Apollonio
INTRODUCTION: Monitoring large carnivores is a central issue in conservation biology. The wolf (Canis lupus) is the most studied large carnivore in the world. After a massive decline and several local extinctions, mostly due to direct persecutions, wolves are now recolonizing many areas of their historical natural range. One of the main monitoring techniques is the howling survey, which is based on the wolves' tendency to use vocalisations to mark territory ownership in response to howls of unknown individuals...
2015: Frontiers in Zoology
https://www.readbyqxmd.com/read/24436177/role-of-the-second-trimester-genetic-sonogram-for-down-syndrome-screen-in-the-era-of-first-trimester-screening-and-noninvasive-prenatal-testing
#6
REVIEW
Anthony O Odibo, Alessandro Ghidini
Ultrasonography for the screening of Down syndrome was first introduced about 25 years ago. Different combinations of markers detectable at second-trimester ultrasonography have been proposed under the banner of 'genetic sonogram'. In recent years, several developments in first-trimester screening and the recent introduction of noninvasive prenatal testing for aneuploidy screening have had important implications for the prevalence of these conditions in the second-trimester and the screening performance of a genetic sonogram...
June 2014: Prenatal Diagnosis
https://www.readbyqxmd.com/read/24179631/sonographic-markers-for-early-diagnosis-of-fetal-malformations
#7
REVIEW
Maria Daniela Renna, Paola Pisani, Francesco Conversano, Emanuele Perrone, Ernesto Casciaro, Gian Carlo Di Renzo, Marco Di Paola, Antonio Perrone, Sergio Casciaro
Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed...
October 28, 2013: World Journal of Radiology
https://www.readbyqxmd.com/read/23980222/efficacy-of-the-genetic-sonogram-in-a-stepwise-sequential-protocol-for-down-syndrome-screening
#8
Alireza A Shamshirsaz, Samadh F Ravangard, Garry Turner, Adam Borgida, Mary Beth Janicki, Winston A Campbell, Carolyn Zelop, Amirhoushang A Shamshirsaz, Melissa Spiel, Anne Marie Prabulos, Deborah Feldman, John Rodis, Charles J Ingardia, Padmalatha Gurram, Kisti Fuller, Yu M Fang, Peter Benn, James F X Egan
OBJECTIVES: The purpose of this study was to evaluate the efficacy of the genetic sonogram in Down syndrome screening for women who have received the stepwise sequential test. METHODS: This retrospective cohort study included women with singleton pregnancies who underwent stepwise sequential (first-trimester combined and second-trimester serum) screening and then had a genetic sonogram between March 2005 and January 2010. Stepwise sequential Down syndrome risks were multiplied by either a positive or negative likelihood ratio based on the second-trimester sonographic findings to determine the final Down syndrome risk...
September 2013: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/23894980/-bioacoustic-of-the-advertisement-call-of-ceratophrys-cranwelli-anura-ceratophryidae
#9
Julián Alonso Valetti, Nancy Edith Salas, Adolfo Ludovico Martino
The advertisement call plays an important role in the life history of anuran amphibians, mainly during the breeding season. Call features represent an important character to discriminate species, and sound emissions are very effective to assure or reinforce genetic incompatibility, especially in the case of sibling species. Since frogs are ectotherms, acoustic properties of their calls will vary with temperature. In this study, we described the advertisement call of C. cranwelli, quantifying the temperature effect on its components...
March 2013: Revista de Biología Tropical
https://www.readbyqxmd.com/read/23814750/the-associations-of-nuchal-translucency-and-fetal-abnormalities-significance-and-implications
#10
Shaista Salman Guraya
This review of literature describes the first-trimester nuchal translucency (NT) which forms the basis of new form of screening which can lead to a significant improvement in detection of congenital anomalies as compared to second trimester screening programs, the so called genetic-sonogram. A growing body of evidence-based studies has demonstrated that fetal NT can be a powerful prenatal screening tool and combined with first trimester serum markers, it can be incredibly promising in near future. It should be expressed as Multiple of median (MoM) and maintained and monitored like any laboratory analyte...
May 2013: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/23800320/clinical-manifestations-in-female-carriers-of-mucopolysaccharidosis-type-ii-a-spanish-cross-sectional-study
#11
Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez, Olga Alonso-Luengo
BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility...
2013: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/23389334/clinical-and-pathological-features-of-a-neonate-with-autosomal-recessive-polycystic-kidney-disease-caused-by-a-nonsense-pkhd1-mutation
#12
Xi-Hui Zhou, Zhi-Yan Hui, Yuan Li
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary nephropathies in childhood. We report a neonate with ARPKD presenting with oligohydramnios, enlargement and increased echogenicity of both kidneys shown by antenatal sonograms after a 29-week gestation and died within the first few hours of life. METHODS: The neonate was investigated pathologically post-mortem. PCR-DNA direct sequencing was performed to detect the exons of the PKHD1 gene for mutation analysis...
February 2013: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/23388220/rare-and-severe-complications-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-a-case-report
#13
Florbela Ferreira, João Martin Martins, Sónia do Vale, Rui Esteves, Garção Nunes, Isabel do Carmo
UNLABELLED: HASH(0x43ab940) INTRODUCTION: We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined by a cosyntropin stimulation test before and after adrenalectomy...
2013: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/22443204/acrania-anencephaly-associated-with-hypospadias-prenatal-ultrasound-and-mri-diagnosis-and-molecular-folate-metabolism-pathway-analysis
#14
Gabriele Tonni, Giovanni Centini, Maria Paola Bonasoni, Alessandro Ventura, Pierpaolo Pattacini, Pietro Cavalli
Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level...
December 2012: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/21484908/second-trimester-soft-markers-relation-to-first-trimester-nuchal-translucency-in-unaffected-pregnancies
#15
J Miguelez, M De Lourdes Brizot, A W Liao, M H B De Carvalho, M Zugaib
OBJECTIVE: Genetic sonography following first-trimester combined screening appears to increase substantially detection rates for Down syndrome but it relies on the unproved assumption of independence between these tests. In this study we aimed to investigate the relationship between first-trimester nuchal translucency (NT) and a series of second-trimester soft markers and structural defects in unaffected pregnancies. METHODS: NT measurement in the first trimester was followed by second-trimester scan (18 to 23 + 6 weeks) including examination for three categorical markers (intracardiac echogenic foci, hyperechogenic bowel and structural defects) and measurement of nasal bone length, nuchal-fold thickness, femur length, humerus length, renal pelvis diameter and prenasal thickness...
March 2012: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/21460145/the-genetic-sonogram-comparing-the-use-of-likelihood-ratios-versus-logistic-regression-coefficients-for-down-syndrome-screening
#16
COMPARATIVE STUDY
Yan Zhong, Ryan Longman, Rachael Bradshaw, Anthony O Odibo
OBJECTIVES: The purpose of this study was to compare the screening efficiency for Down syndrome using likelihood ratios versus logistic regression coefficients. METHODS: We conducted a retrospective study of women at increased risk for Down syndrome referred for a second-trimester genetic sonogram. Likelihood ratios were calculated by multiplying the risk ratio from maternal serum screening by the likelihood ratios of sonographic markers. Logistic regression coefficients were calculated using a formula derived from β coefficients generated from a multivariable logistic regression model...
April 2011: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/21342626/-cockayne-syndrome
#17
Xue-Mei Wang, Yun-Pu Cui, Yun-Feng Liu, Ling Wei, Hui Liu, Xin-Li Wang, Zhuo-Zhao Zheng
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia...
February 2011: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/20572106/the-history-of-the-second-trimester-sonographic-markers-for-detecting-fetal-down-syndrome-and-their-current-role-in-obstetric-practice
#18
REVIEW
Beryl R Benacerraf
This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990 s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal...
July 2010: Prenatal Diagnosis
https://www.readbyqxmd.com/read/20436773/48-xxyy-in-a-general-adult-psychiatry-department
#19
Nuno Borja-Santos, Bruno Trancas, Pilar Santos Pinto, Bárbara Lopes, António Gamito, Sandra Almeida, Berta Ferreira, Antonio Luengo, Carlos Vieira, Jorge Martinho, Bruno Pereira, Graça Cardoso
The 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department.A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity...
March 2010: Psychiatry
https://www.readbyqxmd.com/read/20103793/do-race-specific-definitions-of-short-long-bones-improve-the-detection-of-down-syndrome-on-second-trimester-genetic-sonograms
#20
Lorie M Harper, Diana Gray, Jeffrey Dicke, David M Stamilio, George A Macones, Anthony O Odibo
OBJECTIVE: The purpose of this study was to determine whether the use of race-specific definitions of short femur and humerus lengths improves Down syndrome detection. METHODS: This was a retrospective cohort study over 16 years. For each self-reported maternal race (white, African American, Hispanic, and Asian), we evaluated the efficiency of Down syndrome detection using published race-specific formulas compared with a standard formula for short femur and humerus lengths (observed versus expected lengths < or =0...
February 2010: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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