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Prenatal test

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https://www.readbyqxmd.com/read/29334402/noninvasive-reconstruction-of-placental-methylome-from-maternal-plasma-dna-potential-for-prenatal-testing-and-monitoring
#1
Kun Sun, Fiona M F Lun, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo, Hao Sun
OBJECTIVE: During human pregnancy, the DNA methylation of placental tissue is highly relevant to the normal growth and development of the fetus, therefore methylomic analysis of the placental tissue possesses high research and clinical value in prenatal testing and monitoring. Thus our aim is to develop an approach for reconstruction of the placental methylome, which should be completely noninvasive and achieve high accuracy and resolution. RESULTS: We propose a novel size-based algorithm, FEMER, to noninvasively reconstruct the placental methylome by genomewide bisulfite sequencing and size-based analysis of maternal plasma DNA...
January 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#2
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#3
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329576/spontaneous-prematurity-in-fetuses-with-congenital-diaphragmatic-hernia-a-retrospective-cohort-study-about-prenatal-predictive-factors
#4
Bruna Maria Lopes Barbosa, Agatha S Rodrigues, Mario Henrique Burlacchini Carvalho, Roberto Eduardo Bittar, Rossana Pulcineli Vieira Francisco, Lisandra Stein Bernardes
BACKGROUND: To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). METHODS: A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014...
January 12, 2018: BMC Pregnancy and Childbirth
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 (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) 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/29326869/prenatal-methadone-exposure-is-associated-with-altered-neonatal-brain-development
#6
Victoria J Monnelly, Devasuda Anblagan, Alan Quigley, Manuel Blesa Cabez, E Sarah Cooper, Helen Mactier, Scott I Semple, Mark E Bastin, James P Boardman
Methadone is used for medication-assisted treatment of heroin addiction during pregnancy. The neurodevelopmental outcome of children with prenatal methadone exposure can be sub-optimal. We tested the hypothesis that brain development is altered among newborn infants whose mothers were prescribed methadone. 20 methadone-exposed neonates born after 37 weeks' postmenstrual age (PMA) and 20 non-exposed controls underwent diffusion MRI at mean PMA of 39+ 2 and 41+ 1 weeks, respectively. An age-optimized Tract-based Spatial Statistics (TBSS) pipeline was used to perform voxel-wise statistical comparison of fractional anisotropy (FA) data between exposed and non-exposed neonates...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#7
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/29323780/nurses-perceptions-on-the-overuse-of-health-services-a-qualitative-study
#8
Moriah E Ellen, Saritte Perlman
PURPOSE: To examine whether nurses in Israel think there is overuse of health services, the reasons behind the issue, and ways to reduce the overuse. DESIGN: This was a qualitative study using semistructured interviews. A convenience sample of community care nurses from health clinics across Israel was interviewed. Interviews focused on common areas of overuse, outcomes of overuse, causes of overuse, and potential ways to address the issue. Interviews were recorded, transcribed, and analyzed thematically...
January 11, 2018: Journal of Nursing Scholarship
https://www.readbyqxmd.com/read/29321362/a-novel-missense-mutation-of-adar1-gene-in-a-chinese-family-leading-to-dyschromatosis-symmetrica-hereditaria-and-literature-review
#9
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#10
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29318470/gendered-peer-involvement-in-girls-with-congenital-adrenal-hyperplasia-effects-of-prenatal-androgens-gendered-activities-and-gender-cognitions
#11
Sheri A Berenbaum, Adriene M Beltz, Kristina Bryk, Susan McHale
A key question in understanding gender development concerns the origins of sex segregation. Children's tendencies to interact with same-sex others have been hypothesized to result from gender identity and cognitions, behavioral compatibility, and personal characteristics. We examined whether prenatal androgen exposure was related to time spent with boys and girls, and how that gendered peer involvement was related to sex-typed activities and gender identity and cognitions. We studied 54 girls with congenital adrenal hyperplasia (CAH) aged 10-13 years varying in degree of prenatal androgen exposure: 40 girls with classical CAH (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical CAH (NC-CAH) exposed to low, female-typical, prenatal androgens...
January 9, 2018: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/29317692/haplotype-based-noninvasive-prenatal-diagnosis-of-hyperphenylalaninemia-through-targeted-sequencing-of-maternal-plasma
#12
Jun Ye, Chao Chen, Yuan Yuan, Lianshu Han, Yaoshen Wang, Wenjuan Qiu, Huiwen Zhang, Asan, Xuefan Gu
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase (PAH) and 6-pyruvoyltetrahydropterin (PTS) and its coding region to determine the parental haplotypes and linkage to pathogenic mutations...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29317066/an-exploration-of-the-hypothesis-that-testosterone-is-implicated-in-the-psychological-functioning-of-women-with-polycystic-ovary-syndrome-pcos
#13
J A Barry, F Qu, P J Hardiman
One of the diagnostic features of polycystic ovary syndrome (PCOS) is elevation of the androgen, testosterone. It is known that women with PCOS are more likely to suffer from psychological problems, especially anxiety and depression, than other women. However, little is known of how much of this is due to testosterone, and if so, what the mechanism(s) might be. This study explores the hypothesis that testosterone impacts women with PCOS both directly and indirectly, via testosterone currently in the bloodstream and through prenatal exposure...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29314318/two-novel-cps1-mutations-in-a-case-of-carbamoyl-phosphate-synthetase-1-deficiency-causing-hyperammonemia-and-leukodystrophy
#14
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/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#15
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29313417/beyond-the-verbal-pregnant-women-s-preferences-for-receiving-influenza-and-tdap-vaccine-information-from-their-obstetric-care-providers
#16
Mallory Ellingson, Allison T Chamberlain
OBJECTIVE: Prenatal providers are pregnant women's most trusted sources of health information, and a provider's recommendation is a strong predictor of maternal vaccine receipt. However, other ways women prefer receiving vaccine-related information from prenatal providers, aside from face-to-face conversations, is unclear. This study explores what secondary communication methods are preferred for receiving maternal vaccine-related information. STUDY DESIGN: Obstetric patients at four prenatal clinics around Atlanta, Georgia received a 27-item survey between May 5th, 2016 and June 15th, 2016...
January 9, 2018: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29310733/anogenital-distance-in-newborn-daughters-of-women-with-polycystic-ovary-syndrome-indicates-fetal-testosterone-exposure
#17
E S Barrett, K M Hoeger, S Sathyanarayana, D H Abbott, J B Redmon, R H N Nguyen, S H Swan
Polycystic ovary syndrome (PCOS) affects ~7% of reproductive age women. Although its etiology is unknown, in animals, excess prenatal testosterone (T) exposure induces PCOS-like phenotypes. While measuring fetal T in humans is infeasible, demonstrating in utero androgen exposure using a reliable newborn biomarker, anogenital distance (AGD), would provide evidence for a fetal origin of PCOS and potentially identify girls at risk. Using data from a pregnancy cohort (The Infant Development and Environment Study), we tested the novel hypothesis that infant girls born to women with PCOS have longer AGD, suggesting higher fetal T exposure, than girls born to women without PCOS...
January 9, 2018: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/29306932/clinical-study-of-fetal-neurobehavior-by-the-kanet-test
#18
REVIEW
Raul Moreira Neto, Selma Porovic
Fetal neurology is evolving as an area of great interest in prenatal diagnosis and fetal medicine. The identification and diagnosis of brain damage prenatally has been a great challenge in obstetrics for many years. Investigations of fetal behavior in comparison with morphological studies led to the conclusion that fetal behavioral patterns directly reflect developmental and maturational processes of the fetal central nervous system (CNS). Four-dimensional (4D) ultrasound has greatly improved the assessment of the quality of the fetal spontaneous movements, and enabled a better evaluation of fetal behavior...
January 8, 2018: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29306563/yield-rate-of-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-defects
#19
Sifa Turan, Mehmet Resit Asoglu, Rinat Gabbay Benziv, Lauren Doyle, Christopher Harman, Ozhan M Turan
OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified...
December 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#20
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
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