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"Prenatal Screening"

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https://www.readbyqxmd.com/read/28792712/external-quality-assessment-of-first-trimester-prenatal-biochemical-screening-in-china
#1
Shishi Zhang, Xiaoyan Zhang, Wei Wang, Falin He, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: Free β subunit of human chorionic gonadotropin (free β-hCG) and pregnancy-associated plasma protein A (PAPP-A) are two important biomarkers in first-trimester prenatal screening. This study intended to reflect their analytical performance in clinical laboratories and main platforms of the 2015 External Quality Assessment (EQA) scheme for the first-trimester biochemical screening in China. METHODS: Ten lyophilized EQA samples, divided into two sets and analyzed in two cycles 20151 and 20152, were distributed to each participant in 2015...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#2
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#3
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28756761/measuring-maternal-serum-screening-markers-for-down-s-syndrome-in-plasma-collected-for-cell-free-dna-testing
#4
Geralyn M Lambert-Messerlian, Elizabeth E Eklund, Louis M Neveux, Glenn E Palomaki
Objectives To determine whether maternal plasma collected in cell-free DNA stabilizing tubes is suitable for measuring prenatal screening 'serum' markers. Methods Matched plasma and serum samples were collected from 41 second trimester and 42 first trimester non-Down's syndrome pregnancies. Second trimester samples were tested for alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin, and inhibin-A (Beckman Coulter DxI immunoassay). First trimester samples were tested for human chorionic gonadotropin and pregnancy-associated plasma protein A...
September 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/28742930/information-about-first-trimester-screening-and-self-reported-distress-among-pregnant-women-and-partners-comparing-two-methods-of-information-giving-in-sweden
#5
Peter Lindgren, Magdalena Stadin, Inger Blomberg, Karin Nordin, Hanna Sahlgren, Charlotta Ingvoldstad Malmgren
INTRODUCTION: Balanced information prior to prenatal diagnosis (PND) aims to help expectant parents to make an informed choice. However, it is important that the information does not increase the expectant parents' psychological distress. The aim was to examine psychological distress among expectant parents, before and after receiving information about PND, to evaluate the possible differences between two different procedures of information giving, and to evaluate the association between satisfaction with the information and psychological distress...
July 25, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#6
Hong Liao, Shanling Liu, He Wang
OBJECTIVE: The objective of this study was to review the published studies of non-invasive prenatal screening (NIPS) in twin pregnancies and to evaluate the performance for screening fetal trisomies 21, 18, and 13 in twin pregnancies. METHOD: Ten eligible studies were included in this meta-analysis. Data analysis, heterogeneity exploring, meta-regression and subgroup analysis were all conducted with Meta-DiSc 1.4. Quality assessments were carried out with the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2)...
July 20, 2017: Prenatal Diagnosis
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...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28707139/patients-knowledge-of-prenatal-screening-for-trisomy-21
#8
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/28695339/different-information-by-mri-compare-to-ultrasound-in-fetal-intracranial-space-occupying-lesions
#9
Wei Xia, Gregor Kasprian, Daoyu Hu, Peng Xiao, Wenzhong Yang, Xinlin Chen
PURPOSE: The purpose of this study was to evaluate the value of prenatal magnetic resonance imaging (MRI) in characterizing fetal intracranial space occupying lesions in comparison to prenatal ultrasound. METHODS: This retrospective study included 50 fetuses (mean age 26 years, mean gestational weeks 31 + 1 GW) with intracranial space occupying lesions, suspected by prenatal screening ultrasound. T2-weighted, T1-weighted, SSFP, and diffusion-weighted sequences of the fetal brain were obtained on a 1...
July 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28692640/congenital-toxoplasmosis-in-austria-prenatal-screening-for-prevention-is-cost-saving
#10
Andrea-Romana Prusa, David C Kasper, Larry Sawers, Evelyn Walter, Michael Hayde, Eileen Stillwaggon
BACKGROUND: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario...
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28691395/low-expression-of-soluble-human-leukocyte-antigen-g-in-early-gestation-and-subsequent-placenta-mediated-complications-of-pregnancy
#11
Luca Marozio, Anna Garofalo, Paola Berchialla, Anna Maria Tavella, Loredana Salton, Franco Cavallo, Chiara Benedetto
AIM: Abnormal placentation is a common pathogenic mechanism of many placenta-mediated complications of late pregnancy, including pre-eclampsia, fetal growth restriction, stillbirth, and placental abruption. During successful placentation, the trophoblast (which is a semi-allograft) is not rejected by decidual immune cells because of maternal immune tolerance, mainly induced by human leukocyte antigen G (HLA-G). Deficient HLA-G expression seems to be associated with the development of complications of pregnancy...
July 10, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28689555/implementing-a-wic-based-intervention-to-promote-exclusive-breastfeeding-challenges-facilitators-and-adaptive-strategies
#12
Johanna D Eldridge, Josette O Hartnett, Furrina F Lee, Jackson P Sekhobo, Lynn S Edmunds
OBJECTIVE: Understand factors that contributed to the implementation of a successful multicomponent intervention to promote exclusive breastfeeding (EBF) within Special Supplemental Nutrition Program for Woman, Infants, and Children (WIC) clinics. DESIGN: Qualitative study of staff implementers' experiences using implementation status reports, facilitated group discussion immediately after implementation, and WIC administrative data. SETTING: WIC staff from 12 clinics participated in an EBF Learning Community composed of 8 intervention trainings and ongoing support from trainers and peers...
July 2017: Journal of Nutrition Education and Behavior
https://www.readbyqxmd.com/read/28686807/systematic-review-and-meta-analysis-of-non-invasive-prenatal-dna-testing-for-trisomy-21-implications-for-implementation-in-china
#13
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of massive parallel sequencing (MPS) technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. METHODS: Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews, and three major Chinese databases were performed to identify all the peer-reviewed articles published between 1 January 2011 and 15 October 2016...
July 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28682879/sociodemographic-differences-among-hiv-positive-and-hiv-negative-recently-pregnant-women-in-mexico-city-a-case-control-study
#14
Daniel Aguilar-Zapata, Alicia Piñeirúa-Menéndez, Patricia Volkow-Fernández, Patricia Rodríguez-Zulueta, Ubaldo Ramos-Alamillo, Teresita Cabrera-López, Alexandra Martin-Onraet
National HIV preventive programs in Mexico focus on high-risk groups that do not consider women, apart from prenatal screening. Nonetheless, the epidemic in women is growing, and there is a need to better understand sociodemographic factors in women living with HIV (WLH). We performed a case-control study in Mexico City, including HIV+ and HIV- women with a recent pregnancy to compare their sociodemographic characteristics and describe the circumstances of diagnosis in HIV+ women, as well as prenatal screening frequency in both groups...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#15
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28681452/views-of-the-obstetric-profession-on-non-invasive-prenatal-testing-in-aotearoa-new-zealand-a-national-survey
#16
Sara K Filoche, Beverley Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Aotearoa New Zealand (NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service. AIM: To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. METHODS: An anonymous online survey combining Likert scales and free text was designed to assess current practice, knowledge, ethical considerations, counselling and views toward public funding of NIPT...
July 6, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28673724/three-dimensional-printed-haptic-model-from-a-prenatal-surface-rendered-oropalatal-sonographic-view-a-new-tool-in-the-surgical-planning-of-cleft-lip-palate
#17
R Nicot, G Couly, J Ferri, J-M Levaillant
Three-dimensional (3D) ultrasound has significantly improved prenatal screening and perinatal care in the area of cleft lip/palate and other deformities, providing essential preoperative information to the surgical team. However, current 3D reconstruction modalities are limited primarily to display on a two-dimensional surface. In contrast, a 3D printed haptic model allows both the surgeon and the parents to develop a better understanding of the anatomy and the surgical procedure through the ability to interact directly with the printed model...
June 30, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28665986/impact-of-prenatal-screening-on-the-prevalence-of-down-syndrome-in-slovenia
#18
Gorazd Rudolf, Nataša Tul, Ivan Verdenik, Marija Volk, Anamarija Brezigar, Nadja Kokalj Vokač, Nataša Jeršin, Bernarda Prosenc, Tanja Premru Sršen, Borut Peterlin
OBJECTIVES: To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. DESIGN AND SETTING: Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. MAIN OUTCOME MEASURES: The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia...
2017: PloS One
https://www.readbyqxmd.com/read/28654610/what-s-new-in-syndromic-craniosynostosis-surgery
#19
Jesse A Taylor, Scott P Bartlett
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#20
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
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