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Prenatal genetic testing

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https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#1
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#2
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28774688/prenatal-exposure-to-drinking-water-chlorination-by-products-cytochrome-p450-gene-polymorphisms-and-small-for-gestational-age-neonates
#3
Samuella G Bonou, Patrick Levallois, Yves Giguère, Manuel Rodriguez, Alexandre Bureau
Genetic susceptibility may modulate chlorination by-products (CBPs) effects on fetal growth, especially genes coding for the cytochrome P450 involved in the metabolism of CBPs and steroidogenesis. In a case-control study of 1432 mother-child pairs, we assessed the association between maternal and child single nucleotide polymorphisms (SNPs) within CYP1A2, CYP2A6, CYP2D6 and CYP17A1 genes and small-for-gestational-age neonates (SGA<10th percentile) as well as interaction between these SNPs and maternal exposure to trihalomethanes or haloacetic acids (HAAs) during the third trimester of pregnancy...
July 31, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#4
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28767925/autism-spectrum-disorders-an-updated-guide-for-genetic-counseling
#5
Karina Griesi-Oliveira, Andréa Laurato Sertié
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases...
April 2017: Einstein
https://www.readbyqxmd.com/read/28754176/genome-wide-gene-by-lead-exposure-interaction-analysis-identifies-unc5d-as-a-candidate-gene-for-neurodevelopment
#6
Zhaoxi Wang, Birgit Claus Henn, Chaolong Wang, Yongyue Wei, Li Su, Ryan Sun, Han Chen, Peter J Wagner, Quan Lu, Xihong Lin, Robert Wright, David Bellinger, Molly Kile, Maitreyi Mazumdar, Martha Maria Tellez-Rojo, Lourdes Schnaas, David C Christiani
BACKGROUND: Neurodevelopment is a complex process involving both genetic and environmental factors. Prenatal exposure to lead (Pb) has been associated with lower performance on neurodevelopmental tests. Adverse neurodevelopmental outcomes are more frequent and/or more severe when toxic exposures interact with genetic susceptibility. METHODS: To explore possible loci associated with increased susceptibility to prenatal Pb exposure, we performed a genome-wide gene-environment interaction study (GWIS) in young children from Mexico (n = 390) and Bangladesh (n = 497)...
July 28, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#7
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28739807/organisation-of-care-for-pregnancy-in-patients-with-congenital-heart-disease
#8
REVIEW
Jolien W Roos-Hesselink, Werner Budts, Fiona Walker, Julie F A De Backer, Lorna Swan, William Stones, Peter Kranke, Karen Sliwa-Hahnle, Mark R Johnson
Improvements in surgery have resulted in more women with repaired congenital heart disease (CHD) surviving to adulthood. Women with CHD, who wish to embark on pregnancy require prepregnancy counselling. This consultation should cover several issues such as the long-term prognosis of the mother, fertility and miscarriage rates, recurrence risk of CHD in the baby, drug therapy during pregnancy, estimated maternal risk and outcome, expected fetal outcomes and plans for pregnancy. Prenatal genetic testing is available for those patients with an identified genetic defect using pregestational diagnosis or prenatal diagnosis chorionic villus sampling or amniocentesis...
July 24, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#9
F Han, L S Han, W J Ji, T Chen, F Xu, Y Wang, J Ye, W J Qiu, H W Zhang, Y Z Jiang, C Hou, X F Gu
Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#10
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#11
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28721719/imprinted-nanovelcro-microchips-for-isolation-and-characterization-of-circulating-fetal-trophoblasts-toward-noninvasive-prenatal-diagnostics
#12
Shuang Hou, Jie-Fu Chen, Min Song, Yazhen Zhu, Yu Jen Jan, Szu Hao Chen, Tzu-Hua Weng, Dean-An Ling, Shang-Fu Chen, Tracy Ro, An-Jou Liang, Tom Lee, Helen Jin, Man Li, Lian Liu, Yu-Sheng Hsiao, Peilin Chen, Hsiao-Hua Yu, Ming-Song Tsai, Margareta D Pisarska, Angela Chen, Li-Ching Chen, Hsian-Rong Tseng
Circulating fetal nucleated cells (CFNCs) in maternal blood offer an ideal source of fetal genomic DNA for noninvasive prenatal diagnostics (NIPD). We developed a class of nanoVelcro microchips to effectively enrich a subcategory of CFNCs, i.e., circulating trophoblasts (cTBs) from maternal blood, which can then be isolated with single-cell resolution by a laser capture microdissection (LCM) technique for downstream genetic testing. We first established a nanoimprinting fabrication process to prepare the LCM-compatible nanoVelcro substrates...
July 19, 2017: ACS Nano
https://www.readbyqxmd.com/read/28715041/diagnostic-single-gene-analyses-beyond-sanger-economic-high-throughput-sequencing-of-small-genes-involved-in-congenital-coagulation-and-platelet-disorders
#13
Juliane Najm, Matthias Rath, Winnie Schröder, Ute Felbor
Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes...
July 17, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#14
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#15
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28697118/finding-middle-ground-in-constructing-a-clinically-useful-expanded-carrier-screening-panel
#16
Blair Stevens, Nevena Krstic, Malorie Jones, Lauren Murphy, Jennifer Hoskovec
Expanded carrier screening for autosomal-recessive conditions effectively identifies more carrier couples than traditional guideline-based carrier screening. However, clinically available expanded carrier screening panels include numerous conditions, some of which have questionable clinical utility as a result of very low carrier frequency, low or unknown testing sensitivity, and mild or incompletely penetrant phenotypes. Using the 2013 American College of Medical Genetics and Genomics Position Statement on Prenatal and Preconception Expanded Carrier Screening and the 2017 American College of Obstetricians and Gynecologists' Committee Opinion on Carrier Screening in the Age of Genomic Medicine as guidance, we propose specific criteria for the development of expanded carrier screening panels that will maximize clinical utility and minimize patient stress, unnecessary cost of follow-up testing, and clinician time spent facilitating and performing follow-up counseling and testing...
August 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28696420/a-cost-effectiveness-analysis-of-maternal-cyp2d6-genetic-testing-to-guide-treatment-for-postpartum-pain-and-avert-infant-adverse-events
#17
M E Moretti, D F Lato, H Berger, G Koren, S Ito, W J Ungar
Mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding, by producing more of the active metabolite, morphine. Pharmacogenetic testing may be a valuable tool to identify such mothers, but testing can be costly. The objective of the study was to determine the incremental costs of genotyping to avert neonatal adverse events during maternal pharmacotherapy. A cost-effectiveness analysis, using a decision model, was performed with a hypothetical cohort of prenatal subjects...
July 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28689883/currarino-syndrome-does-the-presence-of-a-genetic-anomaly-correlate-with-a-more-severe-phenotype-a-multicentre-study
#18
Sara Costanzo, Luigina Spaccini, Luca Pio, Girolamo Mattioli, Calogero Virgone, Patrizia Dall'Igna, Barbara Iacobelli, Alessandro Inserra, Giulia Brisighelli, Anna Maria Fagnani, Ernesto Leva, Giulia Giannotti, Maurizio Cheli, Paolo Frumento, Giovanna Riccipetitoni
BACKGROUND/PURPOSE: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients...
June 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28688121/assessing-the-cost-of-implementing-the-2011-society-of-obstetricians-and-gynecologists-of-canada-and-canadian-college-of-medical-genetics-practice-guidelines-on-the-detection-of-fetal-aneuploidies
#19
Margaret Lilley, Stacey Hume, Nina Karpoff, Georges Maire, Sherry Taylor, Robert Tomaszewski, Maisa Yoshimoto, Susan Christian
BACKGROUND: The Society of Obstetricians and Gynecologists of Canada (SOGC) and the Canadian College of Medical Genetics (CCMG) published guidelines, in 2011, recommending replacement of karyotype with QF-PCR when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of QF-PCR as a stand-alone test. RESULTS: A total of 658 samples were received between April 1, 2014 and August 31, 2015: 576 amniocentesis samples and 82 CVS...
July 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28686807/systematic-review-and-meta-analysis-of-non-invasive-prenatal-dna-testing-for-trisomy-21-implications-for-implementation-in-china
#20
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of massive parallel sequencing (MPS) technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. METHODS: Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews, and three major Chinese databases were performed to identify all the peer-reviewed articles published between 1 January 2011 and 15 October 2016...
July 7, 2017: Prenatal Diagnosis
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