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Fetal diagnosis

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https://www.readbyqxmd.com/read/29456678/association-between-dscr4-gene-methylation-in-plasma-in-early-pregnancy-and-down-s-syndrome
#1
Lingyu Hu, Changju Zhou
Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 ( DSCR4 ) gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29456579/splenic-cyst-as-a-rare-cause-of-fetal-abdominal-cystic-mass-a-multicenter-series-of-nine-cases-and-review-of-the-literature
#2
Waldo Sepulveda, Jose H Ochoa, Daniel Cafici, Amy E Wong, Federico Badano, Elena Andreeva, Elena Y Andreeva
Introduction: Congenital splenic cysts are a rare cause of abdominal cystic masses in the fetus. We describe nine cases of this condition, the largest reported experience to date. A review of the literature for similar cases was also performed. Methods: Cases of congenital splenic cyst were collected from three prenatal diagnostic centers and from a dedicated website of prenatal diagnosis. Information regarding clinical and sonographic findings was obtained by reviewing ultrasound reports and medical records...
February 2018: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/29455772/prenatal-diagnosis-of-congenital-heart-disease-a-review-of-current-knowledge
#3
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29451683/prenatal-diagnosis-of-anomalous-origin-of-pulmonary-artery
#4
Xuelei Li, Zhongping Mu, Xu Li, Zongjie Weng
BACKGROUND: Anomalous origin of the pulmonary arteries is a rare congenital pulmonary vascular malformation, that includes unilateral absence of the pulmonary artery (UAPA), anomalous origin of unilateral pulmonary artery (AOPA) and left pulmonary artery sling (LPAS). METHODS: We analyze 15 cases of fetal pulmonary artery abnormalities from 2011 to 2017, detected via prenatal ultrasound at our center. RESULTS: The 15 cases include UAPA (five), AOPA (six), and LPAS (four)...
February 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29450745/clinical-management-of-women-with-monogenic-diabetes-during-pregnancy
#5
REVIEW
Laura T Dickens, Rochelle N Naylor
PURPOSE OF REVIEW: Monogenic diabetes accounts for 1-2% of all diabetes cases, but is frequently misdiagnosed as type 1, type 2, or gestational diabetes. Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for K ATP channel-related diabetes. While diabetes treatment is defined for the most common causes of monogenic diabetes, pregnancy poses a challenge to management...
February 15, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#6
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#7
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29445482/successful-management-of-a-parasitic-ischiopagus-conjoined-twins-in-a-low-income-setting
#8
Arlindo Rosario Muhelo, Genni Montemezzo, Liviana Da Dalt, Olivier Manzungu Wingi, Daniele Trevisanuto, Piergiorgio Gamba, Damiano Pizzol, Elena Cavaliere
Ischiopagus parasites are fetal defects attached to a relatively normal twin by pelvis. This is the first reported case of parasitic ischiopagus twins without prenatal diagnosis successfully managed in Mozambique. A multidisciplinary team was involved in the supernumerary limbs excision. After 7 months, the infant has a normal development.
February 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29442275/five-novel-oncogenic-signatures-could-be-utilized-as-afp-related-diagnostic-biomarkers-for-hepatocellular-carcinoma-based-on-next-generation-sequencing
#9
Zheng Yu, Rongchang Wang, Fan Chen, Jianru Wang, Xiaohui Huang
BACKGROUND: Alpha-fetal protein (AFP) is an important conventional clinical diagnostic indicator of hepatocellular carcinoma (HCC). However, the utilization of AFP alone might yield deceptive results due to its limited sensitivity and accuracy. AIMS: Our study was designed to investigate latent diagnostic biomarkers that could function as auxiliary clinical indicators of HCC and enhance the accuracy of joint diagnosis with AFP. METHODS: We analyzed gene expression profiles and clinical data from HCC patients in The Cancer Genome Atlas database...
February 13, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#10
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29440828/clinical-presentation-management-and-postnatal-outcomes-of-fetal-tachyarrhythmias-a-10-year-single-center-experience
#11
Balaganesh Karmegeraj, Sushmita Namdeo, Abish Sudhakar, Vivek Krishnan, Radhamany Kunjukutty, Balu Vaidyanathan
Background: Limited information is available regarding the prevalence and outcomes of fetal tachyarrhythmias from the developing countries. Aims: This study aims to report referral patterns, management protocols, and pregnancy outcomes of fetuses with tachyarrhythmias reporting to a single center in South India. Methods: All fetuses with documented sustained fetal tachyarrhythmia during the study period (2008-2017) were included. Arrhythmia characterization and hemodynamic evaluation were done using fetal echocardiography...
January 2018: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#12
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29440216/fetal-alcohol-spectrum-disorder-and-youth-justice-a-prevalence-study-among-young-people-sentenced-to-detention-in-western-australia
#13
Carol Bower, Rochelle E Watkins, Raewyn C Mutch, Rhonda Marriott, Jacinta Freeman, Natalie R Kippin, Bernadette Safe, Carmela Pestell, Candy S C Cheung, Helen Shield, Lodewicka Tarratt, Alex Springall, Jasmine Taylor, Noni Walker, Emma Argiro, Suze Leitão, Sharynne Hamilton, Carmen Condon, Hayley M Passmore, Roslyn Giglia
OBJECTIVES: To estimate the prevalence of fetal alcohol spectrum disorder (FASD) among young people in youth detention in Australia. Neurodevelopmental impairments due to FASD can predispose young people to engagement with the law. Canadian studies identified FASD in 11%-23% of young people in corrective services, but there are no data for Australia. DESIGN: Multidisciplinary assessment of all young people aged 10-17 years 11 months and sentenced to detention in the only youth detention centre in Western Australia, from May 2015 to December 2016...
February 13, 2018: BMJ Open
https://www.readbyqxmd.com/read/29438963/health-professionals-and-coroners-views-on-less-invasive-perinatal-and-paediatric-autopsy-a-qualitative-study
#14
Celine Lewis, Melissa Hill, Owen J Arthurs, John C Hutchinson, Lyn S Chitty, Neil Sebire
OBJECTIVE: To assess health professionals' and coroners' attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting. METHODS: A qualitative study using semistructured interviews. Data were analysed thematically. RESULTS: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated...
February 8, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29432238/nervous-system-malformations
#15
John Gaitanis, Tomo Tarui
PURPOSE OF REVIEW: This article provides an overview of the most common nervous system malformations and serves as a reference for the latest advances in diagnosis and treatment. RECENT FINDINGS: Major advances have occurred in recognizing the genetic basis of nervous system malformations. Environmental causes of nervous system malformations, such as perinatal infections including Zika virus, are also reviewed. Treatment for nervous system malformations begins prior to birth with prevention...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29432031/deferred-diagnosis-in-children-assessed-for-fetal-alcohol-spectrum-disorder
#16
Katherine Flannigan, Kamaldeep Gill, Jacqueline Pei, Gail Andrew, Hasu Rajani, Audrey McFarlane, Teresa O'Riordan, Brent Symes, Carmen Rasmussen
Early intervention for individuals with FASD is paramount, thus exploring factors that affect the diagnostic process is critical. This process can be complicated by challenges gathering background information, accurately evaluating higher-level cognitive skills across ages, and teasing apart the impact of life adversities from the effects of prenatal alcohol exposure. This study is a retrospective file review of 154 children (44% female; mean age 8.4 years, range 1.0 to 16.9) deferred at their first FASD assessment, and 51 (43% female; mean 9...
February 12, 2018: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29430703/prenatal-diagnosis-of-berry-syndrome-by-fetal-echocardiography-a-report-of-four-cases
#17
Xin Zhang, Xiao-Wei Liu, Xiao-Yan Gu, Jian-Cheng Han, Xiao-Yan Hao, Yu-Wei Fu, Yi-Hua He
Berry syndrome is a rare congenital cardiac malformation. We describe 4 cases of Berry syndrome diagnosed by fetal echocardiography. Based on our experience, the three-vessel view is important for diagnosing the aortopulmonary window and aortic origin of the right pulmonary artery. Furthermore, the true cross-sectional and sagittal views obtained by continuously scanning from the three-vessel-trachea view to the long-axis view of the aortic arch are required to image the interruption or coarctation of the aortic arch...
February 11, 2018: Echocardiography
https://www.readbyqxmd.com/read/29428904/developmental-disorder-of-podocytes-and-the-related-renal-diseases
#18
Ya-Nan Zhu, Ying Ao, Bin Li, Yang Wan, Hui Wang
Podocyte is one of the main components of glomerular filtration barrier in the kidney; the loss or dysfunction of podocyte could impair the functions of glomerular filtration barrier, leading to development of various renal diseases. Podocyte is a terminally differentiated cell, and thus does not possess any proliferative properties. Accordingly, its number and contribution to renal function are initially determined by its normal development. Information from the literature and results of our research indicate that genetic factors or prenatal adverse environment could cause developmental retardation of podocytes, thereby suggesting the potential fetal developmental origin(s) of kidney diseases, and involvement of epigenetic mechanisms in the regulation of key genes in podocyte development...
February 20, 2018: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29428287/whole-exome-sequencing-applications-in-prenatal-genetics
#19
REVIEW
Angie C Jelin, Neeta Vora
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the era of advancing in utero fetal therapy. This article discusses the current literature regarding prenatal WES, clinical indications for WES, challenges with interpretation/counseling (variants of unknown significance), research priorities, ethical issues, and potential future advances...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29428284/cell-free-dna-screening-for-single-gene-disorders-and-determination-of-fetal-rhesus-d-genotype
#20
REVIEW
Kristin D Gerson, Barbara M O'Brien
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies...
March 2018: Obstetrics and Gynecology Clinics of North America
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