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prenatal testing

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https://www.readbyqxmd.com/read/28734254/childhood-polybrominated-diphenyl-ether-pbde-exposure-and-neurobehavior-in-children-at-8-years
#1
Ann M Vuong, Kimberly Yolton, Changchun Xie, Glenys M Webster, Andreas Sjödin, Joseph M Braun, Kim N Dietrich, Bruce P Lanphear, Aimin Chen
BACKGROUND: Prenatal polybrominated diphenyl ether (PBDE) exposure has been associated with decrements in IQ and increased attention deficit/hyperactivity disorder related behaviors in children; however, data are limited for the role of postnatal exposures. OBJECTIVES: We investigated the association between a series of childhood PBDE concentrations and Full-Scale Intelligence Quotient (FSIQ) and externalizing problems at 8 years. METHODS: We used data from 208 children in the Health Outcomes and Measures of the Environment (HOME) Study, a prospective pregnancy and birth cohort...
July 19, 2017: Environmental Research
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#2
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#3
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/28728157/3-d-volume-assessment-of-the-corpus-callosum-and-cerebellar-vermis-using-various-volume-acquisition-and-post-processing-protocols
#4
Veronika Frisova, Martina Srutova, Jon Hyett
OBJECTIVES: To determine which 3-D techniques are most effective for "real time" prenatal ultrasound assessment of the corpus callosum and cerebellar vermis. METHODS: A prospective study involving 100 consecutive normal singleton pregnancies attending routine anomaly scan at 19-23 weeks' gestation. Midsagittal structures of the fetal brain were assessed using six different methods of 3-D image acquisition and three post-processing techniques. The quality of the resulting images were then assessed and scored by a second operator...
July 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#5
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/28727133/is-unexplained-elevated-maternal-serum-alpha-fetoprotein-still-important-predictor-for-adverse-pregnancy-outcome
#6
Derya Başbuğ, Alper Başbuğ, Cavidan Gülerman
OBJECTIVES: The purpose of this study was to determined the predictive value of maternal serum alpha-fetoprotein (MSAFP) as a marker for adverse pregnancy outcomes. MATERIAL AND METHODS: This study was carried out at Dr. Zekai Tahir Burak Women's Health Education and Research Hospital between 2009 and 2010. This study included a total of 1,177 pregnant women, including 170 in the study group and 1,007 in the control group. Pregnancy outcomes and characteristics were analyzed with regard to the MSAFP value...
2017: Ginekologia Polska
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
#7
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...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726280/an-efficient-study-design-to-test-parent-of-origin-effects-in-family-trios
#8
Xiaobo Yu, Gao Chen, Rui Feng
Increasing evidence has shown that genes may cause prenatal, neonatal, and pediatric diseases depending on their parental origins. Statistical models that incorporate parent-of-origin effects (POEs) can improve the power of detecting disease-associated genes and help explain the missing heritability of diseases. In many studies, children have been sequenced for genome-wide association testing. But it may become unaffordable to sequence their parents and evaluate POEs. Motivated by the reality, we proposed a budget-friendly study design of sequencing children and only genotyping their parents through single nucleotide polymorphism array...
July 20, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28726258/correlation-between-z-score-fetal-fraction-and-sequencing-reads-in-non-invasive-prenatal-testing
#9
Marie Balslev-Harder, Stine R Richter, Susanne Kjaergaard, Peter Johansen
No abstract text is available yet for this article.
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28721719/imprinted-nanovelcro-microchips-for-isolation-and-characterization-of-circulating-fetal-trophoblasts-toward-noninvasive-prenatal-diagnostics
#10
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/28718496/-introduction-of-rapid-syphilis-and-hiv-testing-in-prenatal-care-in-colombia-qualitative-analysis
#11
María Teresa Ochoa-Manjarrés, Hernando Guillermo Gaitán-Duarte, Sidia Caicedo, Berta Gómez, Freddy Pérez
Objective: Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. Methods: A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health...
December 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28717099/differential-neurotoxic-effects-of-in-utero-and-lactational-exposure-to-hydroxylated-polychlorinated-biphenyl-oh-pcb-106-on-spontaneous-locomotor-activity-and-motor-coordination-in-young-adult-male-mice
#12
Asahi Haijima, Ronny Lesmana, Noriaki Shimokawa, Izuki Amano, Yusuke Takatsuru, Noriyuki Koibuchi
We investigated whether in utero or lactational exposure to 4-hydroxy-2',3,3',4',5'-pentachlorobiphenyl (OH-PCB 106) affects spontaneous locomotor activity and motor coordination in young adult male mice. For in utero exposure, pregnant C57BL/6J mice received 0.05 or 0.5 mg/kg body weight of OH-PCB 106 or corn oil vehicle via gavage every second day from gestational day 10 to 18. For lactational exposure, the different groups of dams received 0.05 or 0.5 mg/kg body weight of OH-PCB 106 or corn oil vehicle via gavage every second day from postpartum day 3 to 13...
2017: Journal of Toxicological Sciences
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/28714605/epigenetic-alterations-and-prenatal-maternal-depression
#14
REVIEW
Zsofia Nemoda, Moshe Szyf
Major depressive disorder of the mother affects 6 to 17% of pregnancies worldwide and can lead to negative outcomes, such as preterm delivery and later mental health problems of the child. It has been proposed that developmental programming has long-lasting effects in the offspring that might be mediated by epigenetic mechanisms, such as DNA methylation. Altered stress regulation or impaired immunological function of the mother can potentially affect DNA methylation processes of the fetus, changing gene expression levels in utero...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28713513/the-prevalence-and-risk-factors-of-group-b-streptococcus-colonization-in-iranian-pregnant-women
#15
Roksana Darabi, Sima Tadi, Mitra Mohit, Erfan Sadeghi, Gita Hatamizadeh, Bahareh Kardeh, Mina Etminan-Bakhsh, Yekta Parsa
BACKGROUND: Group B Streptococcus (GBS) is a leading cause of serious neonatal infections. Although great progress has been made in preventing prenatal GBS, its colonization rate in different regions of Iran remains unknown. AIM: To determine GBS colonization prevalence and its risk factors among Iranian pregnant women. METHODS: This prospective cross-sectional study was performed on 186 pregnant women, who attended Boo-Ali hospital which is affiliated with Islamic Azad University in Tehran, Iran, from March 2014 to June 2015...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#16
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/28707139/patients-knowledge-of-prenatal-screening-for-trisomy-21
#17
Michal Sheinis, Kira Bensimon, Amanda Selk
This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10...
July 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#18
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/28706476/long-term-sex-dependent-vulnerability-to-metabolic-challenges-in-prenatally-stressed-rats
#19
Pamela Panetta, Alessandra Berry, Veronica Bellisario, Sara Capoccia, Carla Raggi, Alessia Luoni, Linda Longo, Marco A Riva, Francesca Cirulli
Prenatal stress (PNS) might affect the developmental programming of adult chronic diseases such as metabolic and mood disorders. The molecular mechanisms underlying such regulations may rely upon long-term changes in stress-responsive effectors such as Brain-Derived Neurotrophic Factor (BDNF) that can affect neuronal plasticity underlying mood disorders and may also play a role in metabolic regulation. Based upon previous data, we hypothesized that PNS might lead to greater vulnerability to an obesogenic challenge experienced at adulthood...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/28704672/anthropometric-measures-at-birth-and-early-childhood-are-associated-with-neurodevelopmental-outcomes-among-bangladeshi-children-aged-2-3years
#20
Jane J Lee, Kush Kapur, Ema G Rodrigues, Md Omar Sharif Ibne Hasan, Quazi Quamruzzaman, Robert O Wright, David C Bellinger, David C Christiani, Maitreyi Mazumdar
Among a cohort of children located in rural areas of Bangladesh affected by high levels of exposure to environmental metals, we investigated the associations between anthropometric measures, growth trajectory, and neurodevelopment at age 20-40months. Our study population included mothers and their children who participated in a longitudinal birth cohort study that took in place in the Pabna and Sirajdikhan areas of Bangladesh. Anthropometric measures including weight, length, and head circumference were measured at birth, age 12months, and age 20-40months...
July 10, 2017: Science of the Total Environment
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