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https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#1
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913304/effects-of-nongenetic-factors-on-immune-cell-dynamics-in-early-childhood-the-generation-r-study
#2
Diana van den Heuvel, Michelle A E Jansen, Kazem Nasserinejad, Willem A Dik, Ellen G van Lochem, Liesbeth E Bakker-Jonges, Halima Bouallouch-Charif, Vincent W V Jaddoe, Herbert Hooijkaas, Jacques J M van Dongen, Henriëtte A Moll, Menno C van Zelm
BACKGROUND: . Numbers of blood leukocyte subsets are highly dynamic in childhood and differ greatly between individuals. Inter-individual variation is only partly accounted for by genetic factors. OBJECTIVE: Determine which nongenetic factors affect the dynamics of innate leukocytes, and naive and memory lymphocyte subsets. METHODS: . We performed six-color flow cytometry and linear mixed effect modeling to define the dynamics of 62 leukocyte subsets from birth to 6 years of age in 1,182 children with one to five measurements per individual...
November 29, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#3
Myrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, Scott M Nelson, Jill P Pell
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time...
2016: PloS One
https://www.readbyqxmd.com/read/27905150/genetic-parameter-estimates-for-prenatal-and-postnatal-mortality-in-nellore-cattle
#4
L C Magalhães Silva, F Baldi, C Aboujaoude, G C Venturini, L G Albuquerque, M J R Paranhos da Costa
The aim of this study was to estimate genetic parameters for prenatal (PRE) and postnatal (POS) mortality in Nellore cattle. A total of 13 141 (PRE) and 17 818 (POS) records from Nellore females were used. PRE and POS were recorded using binary scale scores: a score of '1' was given to calves that were born alive (PRE) and those that were alive at weaning (POS), and a score of '0' was given to calves that were not alive at or around birth (PRE), as well as to those weighed at birth but not at weaning (POS)...
December 1, 2016: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#5
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27898911/estimation-of-the-effects-of-selection-on-french-large-white-reproductive-performance-using-frozen-semen
#6
P Silalahi, T Tribout, A Prunier, Y Billon, J Gogué, J P Bidanel
Genetic trends for male and female sexual development and components of litter size and weight at birth (LB) as well as traits related to sow lifetime productivity were estimated in a French Large White (LW) pig population using frozen semen. Two experimental groups (EXP = L77 and L98) were produced by inseminating LW sows with either stored frozen semen from 17 LW boars born in 1977 (EXP = L77) or with semen from 23 LW boars born in 1998 (EXP = L98). In each group, about 100 males were measured for testicular development and bulbo-urethral gland development, and 90 gilts were checked for puberty, among which about 50 gilts were measured for their first ovulation rate at puberty (ORP)...
September 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#7
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27891241/no-evidence-of-prenatal-diversifying-selection-at-locus-or-supertype-levels-in-the-dog-mhc-class-ii-loci
#8
Alina K Niskanen, Lorna J Kennedy, Hannes Lohi, Jouni Aspi, Tanja Pyhäjärvi
BACKGROUND: Despite decades of studying, the mechanisms maintaining high diversity in the genes of the Major Histocompatibility Complex (MHC) are still puzzling scientists. In addition to pathogen recognition and other functions, MHC molecules may act prenatally in mate choice and in maternal-foetal interactions. These interactions are potential selective mechanisms that increase genetic diversity in the MHC. During pregnancy, immune response has a dual role: the foetus represents foreign tissue compared to mother, but histo-incompatibility is required for successful pregnancy...
2016: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#9
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#10
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27885563/quasispecies-composition-and-diversity-do-not-reveal-any-predictors-for-chronic-classical-swine-fever-virus-infection
#11
Maria Jenckel, Sandra Blome, Martin Beer, Dirk Höper
Classical swine fever (CSF) can run acute, chronic, and prenatal courses in both domestic pigs and wild boar. Although chronic infections are rare events, their epidemiological impact is very high due to the long-term shedding of virus. So far, little is known about the factors that influence disease course and outcome from either the host or virus's perspective. To elucidate the viral determinants, we analyzed the role of the viral populations for the development of chronic CSF virus (CSFV) infections. Three different animal trials that had led to both chronic and acute infections were chosen for a detailed analysis by deep sequencing...
November 24, 2016: Archives of Virology
https://www.readbyqxmd.com/read/27885054/impact-of-uteroplacental-insufficiency-on-postnatal-rat-male-gonad
#12
Valentina Pampanini, Daniela Germani, Antonella Puglianiello, Jan-Bernd Stukenborg, Ahmed Reda, Iuliia Savchuk, Kristin Ros Kjartansdóttir, Stefano Cianfarani, Olle Soder
BACKGROUND: Prenatal events such as intrauterine growth restriction can affect gonadal development of the offspring and have an impact on reproductive health. PURPOSE: To investigate the effects of intrauterine growth restricted induced by uterine artery ligation on the postnatal rat testis. METHODS: Pregnant rats underwent uterine artery ligation at day 19 of gestation. Offspring were sacrificed at 5, 20 and 40 days post-partum (dpp). At sacrifice, one gonad was snap frozen in liquid nitrogen and processed for RNA and steroid extraction...
November 24, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#13
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27883173/clinical-application-of-snp-array-analysis-in-first-trimester-pregnancy-loss-a-prospective-study
#14
Yan Wang, Qing Cheng, Lulu Meng, Chunyu Luo, Huanran Hu, Jingjing Zhang, Jian Cheng, Tianhui Xu, Tao Jiang, Dong Liang, Ping Hu, Zhengfeng Xu
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using SNP array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27878832/prenatal-cfdna-screening-results-indicative-of-maternal-neoplasm-survey-of-current-practice-and-management-needs
#15
Meagan E Giles, Lauren Murphy, Nevena Krstić, Cathy Sullivan, Syed S Hashmi, Blair Stevens
OBJECTIVE: To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. METHODS: A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). RESULTS: Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that NIPT results may suggest maternal neoplasm and 77% reported they would disclose such results...
November 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27876354/update-in-the-genetics-of-thalassemia-what-clinicians-need-to-know
#16
REVIEW
Xuan Shang, Xiangmin Xu
Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops fetalis and thalassemia major. However, accurate prenatal diagnosis depends on the comprehensive consideration of the molecular basis of thalassemias. To make a correct decision, the obstetrician should have a certain understanding of the genetics of thalassemias. Here we present a brief introduction of some fundamental genetic knowledge of thalassemias, including the production of hemoglobin, structure and location of globin genes, hemoglobin switch, epidemiology, clinical classification, molecular and cellular pathology, genotype-phenotype correlation, and genetic modifiers...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27875474/committee-opinion-no-682-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#17
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27875471/committee-opinion-no-682-summary-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#18
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#19
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27867679/identification-of-two-novel-mutations-in-the-galnt3-gene-in-a-chinese-family-with-hyperphosphatemic-familial-tumoral-calcinosis
#20
Lihao Sun, Lin Zhao, Lianjun Du, Peipei Zhang, Minjia Zhang, Min Li, Tingting Liu, Lei Ye, Bei Tao, Hongyan Zhao, Jianmin Liu, Xiaoyi Ding
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of 1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 or KL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC. Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotype relationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretation of the genetic information used for prenatal diagnosis and genetic counseling...
2016: Bone Research
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