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"Prenatal Screening"

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https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#1
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/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#2
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/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#3
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#4
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27887753/effect-of-culturally-competent-educational-films-about-prenatal-screening-on-informed-decision-making-of-pregnant-women-in-the-netherlands
#5
I A Peters, A G Posthumus, J C I Y Reijerink-Verheij, H M E Van Agt, M F C M Knapen, S Denktaş
OBJECTIVE: To evaluate the effect of a culturally competent educational film (CCEF) on informed decision making (IDM) regarding prenatal screening (PS) in a study population consisting of multicultural pregnant women. METHODS: A cross-sectional study with 262 women in the control group and 117 in the intervention group. All counselled participants received a self-report questionnaire to obtain data on IDM and only the intervention group received the CCEF. Twenty two percent of the study population had an ethnic minority background and 52% had a low or medium educational level...
November 15, 2016: Patient Education and Counseling
https://www.readbyqxmd.com/read/27878784/a-population-based-study-of-prevalence-of-down-syndrome-in-southern-thailand
#6
Somchit Jaruratanasirikul, Ounjai Kor-Anantakul, Montira Chowvichian, Wannee Limpitikul, Pathikan Dissaneevate, Nitthakarn Intharasangkanawin, Atchara Sattapanyo, Sermsri Pathompanitrat
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis...
November 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#7
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27852253/genomic-profiling-for-copy-number-changes-in-plasma-of-ovarian-cancer-patients-a-new-era-for-cancer-diagnostics
#8
EDITORIAL
Vathany Kulasingam, Eleftherios P Diamandis
A blood test that can detect human malignancy with high clinical sensitivity and specificity is highly desirable. To achieve this, a tumor marker is needed that correlates with tumor burden and that can be measured with high analytical sensitivity and specificity. Over the past decades, a number of different types of tumor markers have emerged, including proteins such as enzymes, glycoproteins, and oncofetal antigens. Besides proteins, genetic abnormalities such as mutations, amplifications, and circulating tumor DNA have served as tumor markers...
November 17, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27829872/noninvasive-prenatal-testing-for-aneuploidy-using-cell-free-dna-new-implications-for-maternal-health
#9
REVIEW
Lisa Hui
The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternal health. Specific maternal conditions that can affect the performance of noninvasive prenatal testing include obesity, active autoimmune disease and low molecular weight heparin treatment. There is also a growing appreciation of the implications of discordant noninvasive prenatal testing results for maternal health, including unexpected diagnoses of maternal chromosomal conditions, or rarely, occult cancer...
December 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27822431/development-implementation-and-assessment-of-a-genetics-curriculum-across-institutions
#10
Sarah Dotters-Katz, Ginger Hocutt, C Michael Osborne, Emily E Hardisty, Laurie Demmer, Neeta Vora
Objective Many residency programs offer limited exposure and minimal didactic time genetics, despite its frequent use in obstetrics and gynecology. The objective of this study was to develop, pilot, and assess a three-module women's health genetics curriculum for residents that was easily transferable between institutions. Methods An interactive three-module genetics curriculum covering basic principles, prenatal screening/diagnosis, and cancer genetics was developed. A pre- and posttests were used to assess improvement in knowledge...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27814705/maternal-urinary-metabolic-signatures-of-fetal-growth-and-associated-clinical-and-environmental-factors-in-the-inma-study
#11
Léa Maitre, Cristina M Villanueva, Matthew R Lewis, Jesús Ibarluzea, Loreto Santa-Marina, Martine Vrijheid, Jordi Sunyer, Muireann Coen, Mireille B Toledano
BACKGROUND: Maternal metabolism during pregnancy is a major determinant of the intra-uterine environment and fetal outcomes. Herein, we characterize the maternal urinary metabolome throughout pregnancy to identify maternal metabolic signatures of fetal growth in two subcohorts and explain potential sources of variation in metabolic profiles based on lifestyle and clinical data. METHODS: We used (1)H nuclear magnetic resonance (NMR) spectroscopy to characterize maternal urine samples collected in the INMA birth cohort at the first (n = 412 and n = 394, respectively, in Gipuzkoa and Sabadell cohorts) and third trimesters of gestation (n = 417 and 469)...
November 4, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27813114/the-value-of-the-first-trimester-ultrasound-in-the-era-of-cell-free-dna-screening
#12
Rashmi R Rao, Stephanie G Valderramos, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To describe the clinically relevant findings detected by the first trimester ultrasound (FTU) and to determine the additional value of the FTU compared to cell free DNA (cfDNA) alone. METHOD: Retrospective cohort study of patients undergoing a FTU at a maternal-fetal medicine referral practice. Fetal, gynecologic, and placental findings detected by ultrasound were analyzed with available cfDNA and diagnostic testing results. A subgroup analysis of positive ultrasound findings and cfDNA results was performed to assess the additional benefit of ultrasound evaluation in FT prenatal screening...
November 3, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27812255/fetal-rhd-genotyping-from-circulating-cell-free-fetal-dna-in-plasma-of-rh-negative-pregnant-women-in-iran
#13
Mohammad Hossein Ahmadi, Sedigheh Hantuoshzadeh, Mohammad Ali Okhovat, Nahid Nasiri, Azita Azarkeivan, Naser Amirizadeh
The prenatal determination of the fetal Rh genotype could lead to a substantial reduction in the use of anti-D immunoglobulin and prevention of unnecessary exposure of pregnant women carrying RhD negative fetus. The aim of this study was fetal RHD genotyping through the analysis of cffDNA in plasma samples of RhD negative pregnant women by real-time PCR technique. In this experiment, 30 plasma samples were collected from RhD negative pregnant women. DNA were extracted and real-time PCR reactions were done by specific primers for RHD, SRY and beta-globin (GLO) genes...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27810260/automatic-detection-of-standard-sagittal-plane-in-the-first-trimester-of-pregnancy-using-3-d-ultrasound-data
#14
Siqing Nie, Jinhua Yu, Ping Chen, Yuanyuan Wang, Jian Qiu Zhang
Fetal nuchal translucency (NT) thickness is one of the most important parameters in prenatal screening. Locating the mid-sagittal plane is one of the key points to measure NT. In this paper, an automatic method for the sagittal plane detection using 3-D ultrasound data is proposed. To avoid unnecessary massive searching and the corresponding huge computation load, a model is proposed to turn the sagittal plane detection problem into a symmetry plane and axis searching problem. The deep belief network (DBN) and a modified circle detection method provide prior knowledge for the searching...
January 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/27796679/experiences-among-women-with-positive-prenatal-expanded-carrier-screening-results
#15
Erin Rothwell, Erin Johnson, Amber Mathiesen, Kylie Golden, Audrey Metcalf, Nancy C Rose, Jeffrey R Botkin
The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care...
October 29, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27793792/role-of-psychosocial-factors-and-health-literacy-in-pregnant-women-s-intention-to-use-a-decision-aid-for-down-syndrome-screening-a-theory-based-web-survey
#16
Agathe Delanoë, Johanie Lépine, Stéphane Turcotte, Maria Esther Leiva Portocarrero, Hubert Robitaille, Anik Mc Giguère, Brenda J Wilson, Holly O Witteman, Isabelle Lévesque, Laurence Guillaumie, France Légaré
BACKGROUND: Deciding about undergoing prenatal screening is difficult, as it entails risks, potential loss and regrets, and challenges to personal values. Shared decision making and decision aids (DAs) can help pregnant women give informed and values-based consent or refusal to prenatal screening, but little is known about factors influencing the use of DAs. OBJECTIVE: The objective of this study was to identify the influence of psychosocial factors on pregnant women's intention to use a DA for prenatal screening for Down syndrome (DS)...
October 28, 2016: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#17
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#18
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27792846/population-screening-for-spinal-muscular-atrophy-a-mixed-methods-study-of-the-views-of-affected-families
#19
Felicity K Boardman, Philip J Young, Frances E Griffiths
Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre-conception, and prenatal. Data were gathered through qualitative interviews (n = 36) and a survey (n = 337)...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27788415/increasing-possibilities-increasing-dilemmas-a-qualitative-study-of-swedish-midwives-experiences-of-ultrasound-use-in-pregnancy
#20
Kristina Edvardsson, Ann Lalos, Annika Åhman, Rhonda Small, Sophie Graner Md PhD, Ingrid Mogren
OBJECTIVE: to explore Swedish midwives' experiences and views of the use of obstetric ultrasound in clinical management of pregnancy, and in situations where maternal and fetal health interests conflict. DESIGN: an exploratory qualitative study based on focus group discussions (FGDs) was undertaken in 2013 as part of the CROss Country Ultrasound Study (CROCUS). Data were analysed using qualitative content analysis. SETTING AND PARTICIPANTS: midwives (N=25) were recruited from four public hospitals located in the northern and central parts of Sweden...
September 22, 2016: Midwifery
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