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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#1
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29349879/a-novel-pklr-gene-mutation-identified-using-advanced-molecular-techniques
#2
Yunyan He, Jianming Luo, Yonghong Lei, Siyuan Jia, Ning Liao
This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c.T941C: p.I314T), and ruled out other blood diseases in the Chinese family. Furthermore, amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of PKLR gene mutation...
January 18, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29343036/-analysis-of-genotype-and-hematological-phenotype-of-14-patients-with-coinheritance-hk%C3%AE-%C3%AE-and-south-east-deletion-thalassemia
#3
L Y Zhong, F Wang, P S Chen, Y J Xie, J Y Tan, M Liu, B Huang, W B Lin
Objective: To analyze the genotype-phenotype correlations among those thalassemia samples with the presence of -α(3.7,) --(SEA) and normal α(2) alleles on their α-globin gene clusters. Methods: Fourteen patients(including 1fetus, 4 males and 9 females, aged 0- 56 years old)who were suspected diagnosed by hematologic analysis and genetic testing among 16 080 participants in our laboratory since from August 2011 to August 2016, were enrolled. Complete blood cell count was performed on XE4000i automatic hemocyte analyzer...
January 9, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29327596/fertility-preservation-in-brca-mutated-women-when-and-how
#4
Michaël Grynberg, Jade Raad, Marjorie Comtet, Claire Vinolas, Isabelle Cédrin-Durnerin, Charlotte Sonigo
BRCA 1 and 2 genes play a critical role in the safeguarding of DNA integrity. It is now well established that BRCA1 and BRCA2-mutated women are at increased risk of breast and ovarian cancers. However, several lines of evidence indicate that this genetic status may also be associated with ovarian dysfunction, in particular a reduced ovarian reserve. Considering the gonadal toxicity of cancer treatments and the recommendation of prophylactic bilateral salpingo-oophorectomy around 40 years, young BRCA mutation carriers are confronted with difficult family planning decisions...
January 12, 2018: Future Oncology
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#5
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#6
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29318963/nanodiagnostics-and-nanodelivery-applications-in-genetic-alterations
#7
Maria Sofia Falzarano, Cristina Flesia, Roberta Cavalli, Caterina Guiot, Alessandra Ferlini
Background Genetic alterations cause hereditary diseases (HDs) with a wide range of incidences. Some, like cystic fibrosi, occur frequently (1/1,000 newborns), whilst others, such as Pompe disease and other metabolic disorders are very rare (1/100,000 newborns). They are well under the threshold of 1/3,000, denoted by the European Community as rare diseases (RDs). Genetic alterations are also associated with multifactorial disorders like diabetes, and underline both somatic and germline mutations in cancer...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#8
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29316359/whole-exome-sequencing-diagnoses-the-first-fetal-case-of-bainbridge-ropers-syndrome-presenting-as-pontocerebellar-hypoplasia-type-1
#9
Séverine Bacrot, Charlotte Mechler, Naima Talhi, Dominique Martin-Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschke, Sophie Thomas, Michel Vekemans, Férechté Razavi, Lucile Boutaud, Tania Attie-Bitach
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE: We report here the first case of prenatal BRPS in a fetus presenting with arthrogryposis on ultrasound and for pontocerebellar hypoplasia type 1 (PCH1) following neuropathological examination. The diagnosis was done by whole exome sequencing that identified a novel de novo ASXL3 mutation...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29314318/two-novel-cps1-mutations-in-a-case-of-carbamoyl-phosphate-synthetase-1-deficiency-causing-hyperammonemia-and-leukodystrophy
#10
Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. The onset of CPS1D can be at any age, and the clinical manifestations are variable and atypical. Genetic tests are indispensable for accurate diagnosis of CPS1D on the basis of biochemical tests. METHODS: Blood tandem mass spectrometric analysis and urea organic acidemia screening were performed on a Chinese neonatal patient with low activity, recurrent seizures, and hyperammonemia...
January 4, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29307017/clinical-characteristics-and-mutation-analysis-of-five-chinese-patients-with-maple-syrup-urine-disease
#11
Xiaomei Li, Yali Yang, Qing Gao, Min Gao, Yvqiang Lv, Rui Dong, Yi Liu, Kaihui Zhang, Zhongtao Gai
Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD. Furthermore, more than 265 mutations have been identified as the cause across different populations worldwide...
January 6, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#12
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29301182/diagnostic-and-therapeutic-considerations-in-turner-syndrome
#13
REVIEW
Seung Yang
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29296092/evaluation-of-amplification-refractory-mutation-system-arms-technique-for-quick-and-accurate-prenatal-gene-diagnosis-of-chm-variant-in-choroideremia
#14
Lisha Yang, Iqra Ijaz, Jingliang Cheng, Chunli Wei, Xiaojun Tan, Md Asaduzzaman Khan, Xiaodong Fu, Junjiang Fu
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). Different primer sets for amplification refractory mutation system (ARMS) were designed and PCR conditions were optimized...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29284168/congenital-neuronal-ceroid-lipofuscinosis-with-a-novel-ctsd-gene-mutation-a-rare-cause-of-neonatal-onset-neurodegenerative-disorder
#15
K Varvagiannis, S Hanquinet, M H Billieux, R De Luca, P Rimensberger, M Lidgren, M Guipponi, P Makrythanasis, J L Blouin, S E Antonarakis, R Steinfeld, I Kern, A Poretti, J Fluss, S Fokstuen
Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth...
December 28, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/29280190/paediatricians-expectations-and-perspectives-regarding-genetic-testing-for-children-with-developmental-disorders
#16
Isabelle Tremblay, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan, Annie Janvier
AIM: Investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology. RESULTS: Ninety-seven % (73/76) of surveys were completed. Pediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious...
December 27, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29276169/prevalence-and-treatment-choices-for-couples-with-recurrent-pregnancy-loss-due-to-structural-chromosomal-anomalies
#17
Savanie Maithripala, Ursula Durland, Jon Havelock, Sonya Kashyap, Jason Hitkari, Justin Tan, Mahmoud Iews, Sarka Lisonkova, Mohamed A Bedaiwy
OBJECTIVE: Parental carriers of balanced structural chromosomal rearrangements such as reciprocal or Robertsonian translocations are at increased risk of recurrent pregnancy loss (RPL) due to the production of gametes with unbalanced non-viable chromosome variants. As a purported means of improving reproductive outcomes in this population, IVF and preimplantation genetic diagnosis (PGD) have been introduced as an alternative to natural conception and prenatal diagnosis. In this study, we evaluate the prevalence and treatment choices of couples with structural chromosomal rearrangement referred to a tertiary care RPL clinic...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29274203/establishing-a-comprehensive-genetic-diagnosis-strategy-for-hemophilia-b-and-its-application-in-chinese-population
#18
X Y Lin, J Wang, X Xiao, Y W Xu, Q J Yan, W Y Jiang
INTRODUCTION: To reduce the incidence of hemophilia B (HB) which with no complete cure currently, prenatal diagnosis and preimplantation genetic diagnosis (PGD) are effective and feasible means. However, previous studies about genetic diagnosis in HB mostly just focused on the detection of patients and carriers. Here, we established a comprehensive genetic diagnosis strategy for HB and worked it out in Chinese population. The strategy includes the detection of patients and carriers, prenatal diagnosis, and PGD...
December 23, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#19
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29261177/reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#20
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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