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https://www.readbyqxmd.com/read/28328129/the-phenotypic-spectrum-of-congenital-zika-syndrome
#1
Miguel Del Campo, Ian M L Feitosa, Erlane M Ribeiro, Dafne D G Horovitz, André L S Pessoa, Giovanny V A França, Alfredo García-Alix, Maria J R Doriqui, Hector Y C Wanderley, Maria V T Sanseverino, João I C F Neri, João M Pina-Neto, Emerson S Santos, Islane Verçosa, Mirlene C S P Cernach, Paula F V Medeiros, Saile C Kerbage, André A Silva, Vanessa van der Linden, Celina M T Martelli, Marli T Cordeiro, Rafael Dhalia, Fernanda S L Vianna, Cesar G Victora, Denise P Cavalcanti, Lavinia Schuler-Faccini
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#2
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28320334/use-of-a-patient-decision-aid-for-prenatal-screening-for-down-syndrome-what-do-pregnant-women-say
#3
Maria Esther Leiva Portocarrero, Anik M C Giguère, Johanie Lépine, Mirjam M Garvelink, Hubert Robitaille, Agathe Delanoë, Isabelle Lévesque, Brenda J Wilson, François Rousseau, France Légaré
BACKGROUND: Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women's use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). METHODS: This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada...
March 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#4
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#5
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28301762/sex-differences-in-binge-eating-gonadal-hormone-effects-across-development
#6
Kelly L Klump, Kristen M Culbert, Cheryl L Sisk
Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating...
March 16, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28301716/prenatal-screening-it-is-not-just-about-down-syndrome
#7
Mary E Norton
Currently available prenatal genetic testing options include a bewildering array of tests from which patients, providers, insurers, and various health systems have to select. In many cases, patients or providers undergo or recommend multiple screening tests focused on the same conditions, for fear of missing something, even if the chance of that is very small. In the commentary in this issue of BJOG by Alfirevic and colleagues (Alfirevic Z, et al. BJOG In Press), the authors opine on the relationship between cell free DNA screening (cfDNA) and first trimester anatomy ultrasound...
March 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#8
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28296980/recent-progress-of-the-aregpkd-registry-study-on-autosomal-recessive-polycystic-kidney-disease
#9
Kathrin Ebner, Franz Schaefer, Max Christoph Liebau
Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. With its obligate renal and hepatic involvement, ARPKD is one of the most important indications for liver and/or kidney transplantation in childhood. Marked phenotypic variability is observed, the genetic basis of which is largely unknown. Treatment is symptomatic and largely empiric as evidence-based guidelines are lacking. Therapeutic initiatives for ARPKD face the problem of highly variable cohorts and lack of clinical or biochemical risk markers without clear-cut clinical end points...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28295384/noninvasive-fetal-genotyping-of-paternally-inherited-alleles-using-targeted-massively-parallel-sequencing-in-parentage-testing-cases
#10
Donggui Yang, Hao Liang, Yu Gao, Shaobin Lin, Zhiming He, Jun Gao, Hongyu Sun, Qing Li, Xiaoyan Ma, Xueling Ou
BACKGROUND: Researchers have sought to develop a noninvasive protocol for paternity analysis that uses fetal cell-free DNA (cfDNA) in maternal plasma. Massively parallel sequencing (MPS) is expected to overcome this challenge because it enables the analysis of millions of DNA molecules at a single-base resolution. STUDY DESIGN AND METHODS: Seven women were involved in prenatal paternity testing cases. Before conventional invasive procedures, cfDNA was isolated from maternal plasma...
March 10, 2017: Transfusion
https://www.readbyqxmd.com/read/28292286/exome-sequencing-identifies-a-novel-ttc37-mutation-in-the-first-reported-case-of-trichohepatoenteric-syndrome-the-s-in-south-africa
#11
Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D van Helden, Eileen G Hoal, Monika Esser, Michael Urban, Marlo Möller
BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, liver cirrhosis and abnormal hair structure on microscopy. We report on two siblings from a consanguineous family of Somali descent who, despite extensive clinical investigation, remained undiagnosed until their demise...
March 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28283918/at-the-heart-of-the-pregnancy-what-prenatal-and-cardiovascular-genetic-counselors-need-to-know-about-maternal-heart-disease
#12
REVIEW
Ana Morales, Dawn C Allain, Patricia Arscott, Emily James, Gretchen MacCarrick, Brittney Murray, Crystal Tichnell, Amy R Shikany, Sara Spencer, Sara M Fitzgerald-Butt, Jessica D Kushner, Christi Munn, Emily Smith, Katherine G Spoonamore, Harikrishna S Tandri, W Aaron Kay
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy...
March 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28277305/current-genetic-testing-tools-in-neonatal-medicine
#13
REVIEW
Seema R Lalani
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28276293/prenatal-detection-of-pik3ca-related-overgrowth-spectrum-in-cultured-amniocytes-using-long-range-pcr-and-next-generation-sequencing
#14
Elizabeth Quinlan-Jones, Denise Williams, Charlotte Bell, Claire Miller, Carolyn Gokhale, Mark D Kilby
Mutations in PIK3CA are associated with overgrowth spectrum disorders including excessive growth in some areas of the body and the central nervous system. Alterations in PIK3CA occur as somatic, postzygotic events and confer a mosaic genotype with variability in phenotypic expression being commonly observed. We describe the second reported prenatal diagnosis of a PIK3CA-related overgrowth spectrum disorder. The prenatal ultrasound features in this case enabled the presumptive, prospective diagnosis to be made which was then confirmed by genetic testing...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28273668/large-duplications-can-be-benign-copy-number-variants-a-case-of-a-3-6-mb-xq21-33-duplication
#15
Marie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, Sophie Rondeau, Michel Vekemans, Catherine Turleau, Yves Ville, Valérie Malan
Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or Xp duplication present with syndromic intellectual disability because of functional disomy of the corresponding genes...
March 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#16
Luisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda, Maria Cristina Rosatelli
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of semiconductor sequencing to the non-invasive prenatal diagnosis of β-thalassemia in 37 couples at risk for this variant...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28266126/the-outcomes-of-31-cases-of-trisomy-13-diagnosed-in-utero-with-various-management-options
#17
Ken Takahashi, Aiko Sasaki, Seiji Wada, Yuka Wada, Keiko Tsukamoto, Rika Kosaki, Yushi Ito, Haruhiko Sago
There are few reports on the prognosis of prenatally diagnosed trisomy 13 in relation to postnatal management. The aim of this study was to report on the prenatal and postnatal outcomes and postnatal management of trisomy 13 fetuses that were prenatally diagnosed at our center between 2003 and 2015. The data were retrospectively reviewed from medical records. Of the 31 cases of trisomy 13, 12 patients were diagnosed before 22 weeks of gestation, and 19 were diagnosed at or after 22 weeks of gestation. Nine families opted for termination of the pregnancy, 14 fetuses died, and 8 were born alive...
March 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28265396/prenatal-diagnosis-of-x-linked-myopathy-associated-with-a-vma21-gene-mutation-afforded-through-a-novel-targeted-exome-sequencing-strategy-applied-in-fetuses-with-abnormal-ultrasound-findings
#18
Christopher Konialis, Efstratios Assimakopoulos, Birgitta Hagnefelt, Sophia Karapanou, Alexandros Sotiriadis, Constantinos Pangalos
Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach.
March 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28264723/developmental-pathways-to-adiposity-begin-before-birth-and-are-influenced-by-genotype-prenatal-environment-and-epigenome
#19
Xinyi Lin, Ives Yubin Lim, Yonghui Wu, Ai Ling Teh, Li Chen, Izzuddin M Aris, Shu E Soh, Mya Thway Tint, Julia L MacIsaac, Alexander M Morin, Fabian Yap, Kok Hian Tan, Seang Mei Saw, Michael S Kobor, Michael J Meaney, Keith M Godfrey, Yap Seng Chong, Joanna D Holbrook, Yung Seng Lee, Peter D Gluckman, Neerja Karnani
BACKGROUND: Obesity is an escalating health problem worldwide, and hence the causes underlying its development are of primary importance to public health. There is growing evidence that suboptimal intrauterine environment can perturb the metabolic programing of the growing fetus, thereby increasing the risk of developing obesity in later life. However, the link between early exposures in the womb, genetic susceptibility, and perturbed epigenome on metabolic health is not well understood...
March 7, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#20
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
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