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Prenatal genetic testing

Peter G Alexander, Karen L Clark, Rocky S Tuan
Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact...
October 21, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Antonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B Van denVeyver, Laird Jackson, Lotte Hatt, Palle Schelde, Niels Uldbjerg, Else Marie Vestergaard, Li Zhao, Rui Chen, Chad A Shaw, Amy M Breman, Arthur L Beaudet
OBJECTIVE: Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT. METHODS: We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome...
October 19, 2016: Prenatal Diagnosis
Abel Jacobus Bronkhorst, Janine Aucamp, Piet J Pretorius
In recent years, cell-free DNA (cfDNA) analysis has received increasing amounts of attention as a potential non-invasive screening tool for the early detection of genetic aberrations and a wide variety of diseases, especially cancer. However, except for some prenatal tests and BEAMing, a technique used to detect mutations in various genes of cancer patients, cfDNA analysis is not yet routinely applied in clinical practice. Although some confusing biological factors inherent to the in vivo setting play a key part, it is becoming increasingly clear that this struggle is mainly due to the lack of an analytical consensus, especially as regards quantitative analyses of cfDNA...
2016: Advances in Experimental Medicine and Biology
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Jennifer Weida, Avinash S Patil, Frank P Schubert, Gail Vance, Holli Drendel, Angela Reese, Stephen Dlouhy, Shaochun Bai, Men-Jean Lee
PURPOSE: The purpose of this study is to evaluate the incidence of maternal cell contamination (MCC) in the first few milliliters of amniotic fluid withdrawn during amniocentesis. METHODS: A prospective observational study was performed. The initial 2-3 ml of amniotic fluid withdrawn during amniocentesis was divided into direct analysis (uncultured) and cultured samples. A matching maternal buccal swab was obtained for MCC testing. MCC was determined by short-tandem repeat analysis...
October 17, 2016: Journal of Maternal-fetal & Neonatal Medicine
E Sacide Çağlayan
Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice, hence cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs...
October 15, 2016: Cell Biology International
Teresa N Sparks, Mary E Norton, Monica Flessel, Sara Goldman, Robert J Currier
OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included...
October 6, 2016: Obstetrics and Gynecology
June C Carroll, Tutsirai Makuwaza, Donna P Manca, Nicolette Sopcak, Joanne A Permaul, Mary Ann O'Brien, Ruth Heisey, Elizabeth A Eisenhauer, Julie Easley, Monika K Krzyzanowska, Baukje Miedema, Sandhya Pruthi, Carol Sawka, Nancy Schneider, Jonathan Sussman, Robin Urquhart, Catarina Versaevel, Eva Grunfeld
OBJECTIVE: To assess primary care providers' (PCPs') experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. DESIGN: Qualitative study involving focus groups. SETTING: Urban and rural interprofessional primary care team practices in Alberta and Ontario. PARTICIPANTS: Fifty-one PCPs. METHODS: Semistructured focus groups were conducted and audiorecorded...
October 2016: Canadian Family Physician Médecin de Famille Canadien
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
Margareta D Pisarska, Marzieh Akhlaghpour, Bora Lee, Gillian M Barlow, Ning Xu, Erica T Wang, Aaron J Mackey, Charles R Farber, Stephen S Rich, Jerome I Rotter, Yii-der I Chen, Mark O Goodarzi, Seth Guller, John Williams
BACKGROUND: Multiple testing to understand global changes in gene expression based on genetic and epigenetic modifications is evolving. Chorionic villi, obtained for prenatal testing, is limited, but can be used to understand ongoing human pregnancies. However, optimal storage, processing and utilization of CVS for multiple platform testing has not been established. RESULTS: Leftover CVS samples were flash-frozen or preserved in RNAlater. Modifications to standard isolation kits were performed to isolate quality DNA and RNA from samples as small as 2-5 mg...
October 8, 2016: Prenatal Diagnosis
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Bart A Ellenbroek, Caren August, Jiun Youn
There is ample evidence that prenatal exposure to valproate (or valproic acid, VPA) enhances the risk of developing Autism Spectrum Disorders (ASD). In line with this, a single injection of VPA induces a multitude of ASD-like symptoms in animals, such as rats and mice. However, there is equally strong evidence that genetic factors contribute significantly to the risk of ASD and indeed, like most other psychiatric disorders, ASD is now generally thought to results from an interaction between genetic and environmental factors...
2016: Frontiers in Neuroscience
Marsha Michie, Stephanie A Kraft, Mollie A Minear, Roberta R Ryan, Megan A Allyse
OBJECTIVES: The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics. METHODS: Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions...
July 2016: Ethics Med Public Health
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
Stefan C Kane, Elissa Willats, Sammya Bezerra Maia E Holanda Moura, Jonathan Hyett, Fabrício da Silva Costa
Chromosomal aneuploidy is responsible for a significant proportion of pregnancy failures, whether conceived naturally or through in vitro fertilization (IVF). In an effort to improve the success rate of IVF, screening embryos for aneuploidy - or pre-implantation genetic screening (PGS) - has been proposed as a means of ensuring only euploid embryos are selected for transfer. Early PGS approaches were based on fluorescence in situ hybridization testing, and have been shown not to improve live birth rates. Recent developments in genetic testing technologies - such as next-generation sequencing and quantitative polymerase chain reaction, coupled with embryo biopsy at the blastocyst stage - have shown promise in improving IVF outcomes, but they remain to be validated in adequately powered, prospective randomized trials...
September 29, 2016: Fetal Diagnosis and Therapy
David S Cram, Daixing Zhou
With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients...
August 2016: Intractable & Rare Diseases Research
Janine Aucamp, Abel J Bronkhorst, Christoffel P S Badenhorst, Piet J Pretorius
The discovery of quantitative and qualitative differences of the circulating DNA (cirDNA) between healthy and diseased individuals inclined researchers to investigate these molecules as potential biomarkers for non-invasive diagnosis and prognosis of various pathologies. However, except for some prenatal tests, cirDNA analyses have not been readily translated to clinical practice due to a lack of knowledge regarding its composition, function, and biological and evolutionary origins. We believe that, to fully grasp the nature of cirDNA and the extracellular vesicles (EVs) and protein complexes with which it is associated, it is necessary to probe the early and badly neglected work that contributed to the discovery and development of these concepts...
September 20, 2016: Cellular and Molecular Life Sciences: CMLS
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