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https://www.readbyqxmd.com/read/28109194/family-health-strategy-and-equity-in-prenatal-care-a-population-based-cross-sectional-study-in-minas-gerais-brazil
#1
Mônica Viegas Andrade, Kenya Valéria Micaela de Souza Noronha, Allan Claudius Queiroz Barbosa, Michelle Nepomuceno Souza, Júlia Almeida Calazans, Lucas Resende de Carvalho, Thiago Augusto Hernandes Rocha, Núbia Cristina Silva
BACKGROUND: Prenatal care coverage is still not universal or adequately provided in many low and middle income countries. One of the main barriers regards the presence of socioeconomic inequalities in prenatal care utilization. In Brazil, prenatal care is supplied for the entire population at the community level as part of the Family Health Strategy (FHS), which is the main source of primary care provided by the public health system. Brazil has some of the greatest income inequalities in the world, and little research has been conducted to investigate prenatal care utilization of FHS across socioeconomic groups...
January 21, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#2
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28108156/smfm-consult-series-42-the-role-of-ultrasound-in-women-who-undergo-cell-free-dna-screening
#3
Mary E Norton, Joseph R Biggio, Jeffrey A Kuller, Sean C Blackwell
The introduction of cell-free DNA (cfDNA) screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cfDNA screening. The following are SMFM recommendations: 1) in women who have already received a negative cfDNA screen, ultrasound at 11-14 weeks of gestation solely for the purpose of NT measurement (CPT code 76813) is not recommended (GRADE 1B); 2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cfDNA screen (GRADE 2B); 3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cfDNA screen, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first or second trimester screening result, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (GRADE 1A); 6) we recommend against routine screening for microdeletions with cfDNA (GRADE 1B)...
January 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28103589/the-effects-of-body-mass-index-on-second-trimester-amniotic-fluid-cytokine-and-matrix-metalloproteinase-levels
#4
Rauf Melekoglu, Osman Ciftci, Sevil Eraslan, Nese Basak, Ebru Celik
AIM: The aim of this study was to determine the effects of obesity on amniotic fluid (AF) inflammatory markers in second-trimester AF, testing the hypothesis that there is a relationship between maternal body mass index (BMI) and fetal inflammatory exposure. METHODS: AF was obtained from 84 singleton pregnant women undergoing elective amniocentesis for karyotype analysis at 16-24 weeks of gestation between April 2014 and May 2016. The cell-free AF was used to analyze interleukin (IL)-1β and IL-6, and matrix metalloproteinase (MMP)-1, MMP-6, and MMP-13...
January 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28102595/-they-can-t-find-anything-wrong-with-him-yet-mothers-experiences-of-parenting-an-infant-with-a-prenatally-diagnosed-copy-number-variant-cnv
#5
Allison Werner-Lin, Sarah Walser, Frances K Barg, Barbara A Bernhardt
Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102322/size-selective-separation-and-overall-amplification-of-cell-free-fetal-dna-fragments-using-pcr-based-enrichment
#6
Qiwei Yang, Zhenwu Du, Yang Song, Sujie Gao, Shan Yu, He Zhu, Ming Ren, Guizhen Zhang
This study aimed to establish a method for the selective amplification of cell-free fetal DNA (cffDNA) in maternal plasma and preserve the integrity of DNA fragments during amplification, thereby providing a sufficient amount of cffDNA to meet the requirement of routine non-invasive prenatal testing. We amplified DNA molecules in a one-reaction system without considering their particular sequences and lengths (overall amplification) by using PCR-based enrichment. We then modified PCR conditions to verify the effect of denaturation temperature on DNA amplification on various lengths of DNA (selective overall amplification)...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101805/ketogenic-diet-in-pyruvate-dehydrogenase-complex-deficiency-short-and-long-term-outcomes
#7
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
OBJECTIVES: Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues. METHODS: Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires...
January 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28101646/pedigree-based-relationship-inference-from-complex-dna-mixtures
#8
Guro Dørum, Navreet Kaur, Mario Gysi
We present a general method for analysing DNA mixtures involving relatives that accounts for dropout and drop-in, mutations, silent alleles and population substructure. Whether the aim is to identify the contributors to a mixture who may be related, or to determine the relationship between individuals based on a DNA mixture, both types of problems can be handled by the method and software presented here. We focus on the latter scenario, motivated by non-invasive prenatal paternity testing where the profile of the child is available only in the form of a mixture with the mother's profile...
January 19, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#9
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28097708/prenatal-testing-for-neuropsychiatric-disorders
#10
EDITORIAL
Alessandro Ghidini, Diana W Bianchi
No abstract text is available yet for this article.
January 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#11
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095344/concordance-between-maternal-recall-of-birth-complications-and-data-from-obstetrical-records
#12
Kate Keenan, Alison Hipwell, Rose McAloon, Amy Hoffmann, Arpita Mohanty, Kelsey Magee
BACKGROUND: Prenatal complications are associated with poor outcomes in the offspring. Access to medical records is limited in the United States and investigators often rely on maternal report of prenatal complications. STUDY DESIGN AND AIMS: We tested concordance between maternal recall and birth records in a community-based sample of mothers participating in a longitudinal study in order to determine the accuracy of maternal recall of perinatal complications. SUBJECTS: Participants were 151 biological mothers, who were interviewed about gestational age at birth, birthweight, and the most commonly occurring birth complications: nuchal cord and meconium aspiration when the female child was on average 6years old, and for whom birth records were obtained...
January 14, 2017: Early Human Development
https://www.readbyqxmd.com/read/28094234/association-between-preterm-labor-and-genitourinary-tract-infections-caused-by-trichomonas-vaginalis-mycoplasma-hominis-gram-negative-bacilli-and-coryneforms
#13
Alaa El-Dien M S Hosny, Waleed El-Khayat, Mona T Kashef, Mohsen N Fakhry
BACKGROUND: Preterm labor (PTL) is responsible for most cases of neonatal death. In most of these cases, the causes of PTL have not been established although several risk factors have been described. Therefore, the aim of this study was to investigate risk factors for PTL before 37 gestational weeks among Egyptian women. METHODS: In this case-control study, 117 pregnant women without risk factors for PTL were chosen. The control group (n=45) had term labor (gestational weeks≥37 weeks), and the case group (n=72) had PTL (gestational weeks < 37 weeks)...
January 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28091126/association-between-perfluoroalkyl-substance-exposure-and-asthma-and-allergic-disease-in-children-as-modified-by-mmr-vaccination
#14
Clara Amalie Gade Timmermann, Esben Budtz-Jørgensen, Tina Kold Jensen, Christa Elyse Osuna, Maria Skaalum Petersen, Ulrike Steuerwald, Flemming Nielsen, Lars K Poulsen, Pál Weihe, Philippe Grandjean
Perfluoroalkyl substances (PFASs) are highly persistent chemicals that might be associated with asthma and allergy, but the associations remain unclear. Therefore, this study examined whether pre- and postnatal PFAS exposure was associated with childhood asthma and allergy. Measles, mumps, and rubella (MMR) vaccination in early life may have a protective effect against asthma and allergy, and MMR vaccination is therefore taken into account when evaluating these associations. In a cohort of Faroese children whose mothers were recruited during pregnancy, serum concentrations of five PFASs - Perfluorohexane sulfonic acid (PFHxS), perfluorooctane sulfonic acid (PFOS), perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), and perfluorodecanoic acid (PFDA) - were measured at three timepoints (maternal serum in pregnancy week 34-36 and child serum at ages 5 and 13 years) and their association with immunoglobulin E (IgE) (cord blood and at age 7 years) and asthma/allergic diseases (questionnaires at ages 5 and 13 years and skin prick test at age 13 years) was determined...
January 16, 2017: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/28086944/prenatal-treatment-for-opioid-dependency-observations-from-a-large-inner-city-clinic
#15
Kelley Saia, Sarah M Bagley, Elisha M Wachman, Payal P Patel, Marisa D Nadas, Susan B Brogly
BACKGROUND: The objective of this study was to review changes in the prevalence of opioid use disorder in pregnancy, and to describe the prenatal care and neonatal outcomes following the implementation of buprenorphine treatment at a large US obstetrical clinic during the on-going opioid epidemic. METHODS: We conducted a retrospective cohort study of 310 women (332 pregnancies) with opioid use disorders and their neonates delivered between June 2006 and December 2010 at an obstetrical clinic in the US...
January 13, 2017: Addiction Science & Clinical Practice
https://www.readbyqxmd.com/read/28081510/gestational-and-lactational-exposure-to-di-isobutyl-phthalate-via-diet-in-maternal-mice-decreases-testosterone-levels-in-male-offspring
#16
Xiaoyang Wang, Nan Sheng, Ruina Cui, Hongxia Zhang, Jianshe Wang, Jiayin Dai
Phthalates are a large family of ubiquitous environmental chemicals suspected of being endocrine disruptors, with exposure to these chemicals during prenatal and postnatal development possibly resulting in reproductive disorders. Di-isobutyl phthalate (DiBP) is widely used in consumer and industrial products, and although its exposure in the general population has increased in recent years, the mechanisms behind DiBP-induced reproductive disorders in male offspring remain unclear. Here, pregnant mice were exposed to 0 or 450 mg/kg bw/day DiBP via diet from gestation day (GD) 0 to GD21...
January 3, 2017: Chemosphere
https://www.readbyqxmd.com/read/28081297/first-trimester-noninvasive-fetal-rhd-genotyping-using-maternal-dried-blood-spots
#17
Yali Xiong, Stacey Jeronis, Barbara Hoffman, Dan A Liebermann, Ossie Geifman-Holtzman
OBJECTIVE: This study was aimed to evaluate whether maternal dried blood spots (DBS) could be a potential source for the non-invasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD: Both the DBS and the peripheral blood samples from nineteen RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and Sequential Real-time PCRs were performed to determine the fetal RHD genotypes...
January 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28079899/genome-sequencing-and-carrier-testing-decisions-on-categorization-and-whether-to-disclose-results-of-carrier-testing
#18
Patricia Himes, Tia L Kauffman, Kristin R Muessig, Laura M Amendola, Jonathan S Berg, Michael O Dorschner, Marian Gilmore, Deborah A Nickerson, Jacob A Reiss, C Sue Richards, Alan F Rope, Dana K Simpson, Benjamin S Wilfond, Gail P Jarvik, Katrina A B Goddard
PURPOSE: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28079113/congenital-hearing-loss
#19
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss...
January 12, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28076991/type-2-diabetes-mellitus-does-prenatal-care-affect-outcomes-suggested-running-head-treatment-of-t2dm-and-perinatal-outcomes
#20
Allison J Allen, Jonathan M Snowden, Bernard Lau, Yvonne Cheng, Aaron B Caughey
OBJECTIVE: To determine if prenatal care affects adverse perinatal outcomes in pregnant women with Type-2 Diabetes Mellitus. STUDY DESIGN: This was a retrospective cohort study of pregnant women with pregestational diabetes mellitus pregnancies in the state of California between 1997 and 2006, using vital statistics data linked to birth certificates. Women were stratified by time of presentation to care and we compared those who presented in the first trimester, third trimester, and those who had no prenatal care prior to delivery...
January 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
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