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"Prenatal Screening"

Emmanuel Bujold, Nan Okun, Jo-Ann Johnson, Francois Audibert
No abstract text is available yet for this article.
March 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Neeta L Vora, Lisa Hui
No abstract text is available yet for this article.
March 6, 2018: Seminars in Fetal & Neonatal Medicine
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
An Chen, Paul Martin Lillrank, Henni Tenhunen, Antti Peltokorpi, Paulus Torkki, Seppo Heinonen, Vedran Stefanovic
Purpose In healthcare, there is limited knowledge of and experience with patient choice management. The purpose of this paper is to focus on patient choice, apply and test demand-supply-based operating (DSO) logic integrated with clinical setting in clarifying choice contexts, investigate patient's choice-making at different contexts and suggest context-based choice architectures to manage and develop patient choice. Design/methodology/approach Prenatal screening and testing in the Helsinki and Uusimaa Hospital District (HUS), Finland, was taken as an example...
February 12, 2018: International Journal of Health Care Quality Assurance
Karin Huijsdens-van Amsterdam, Roy Straver, Merel C van Maarle, Alida C Knegt, Diane Van Opstal, Frank Sleutels, Dominique Smeets, Erik A Sistermans
PurposeUsing genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→︀qter) deletions started close to the FRA10B fragile site in 10q25, we investigated whether the pregnant women were indeed carriers of FRA10B.MethodsWe performed NIPS analysis for all autosomes using single-read sequencing. Analysis was done with the WISECONDOR algorithm. Culture of blood lymphocytes with bromodeoxyuridine was used to detect FRA10B expansions...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Lakshmi R Gokanapudy, Kenneth E Remy, Sathappan Karuppiah, Eneida V Melgar Humala, Ibrahim Abdullah, Michael D Ruppe, William S Schechter, Robert Michler, Joseph D Tobias
Total anomalous pulmonary venous return (TAPVR) is a rare congenital cardiac defect, accounting for 1.5-3% of cases of congenital heart disease. With prenatal ultrasonography, the majority of these patients are diagnosed in utero with definitive surgery performed during the neonatal period. However, as prenatal screening may not be available in developing countries, patients may present in later infancy. We present successful surgical repair of a 6-month-old infant with TAPVR who presented for medical care at 5 months of age in Lima, Peru...
February 2018: Cardiology Research
Ka Wang Cheung, Carman Wing Sze Lai, Christopher C Y Mak, Amelia Pui Wah Hui, Brian H Y Chung, Anita Sik Yau Kan
No abstract text is available yet for this article.
February 23, 2018: Prenatal Diagnosis
Virginia B Bowen, Thomas A Peterman, Dinorah L Calles, Antoine Thompson, Robert Kirkcaldy, Melanie Taylor
This article summarizes a multi-state outbreak of heterosexual syphilis, including 134 cases of syphilis in adults and adolescents and at least two cases of congenital syphilis, which occurred on an American Indian reservation in the United States during 2013-2015. In addition to providing salient details about the outbreak, the article seeks to document the case-finding and treatment activities undertaken, their relative success or failure, and the lessons learned from a coordinated, multiagency response. Of 134 adult cases of syphilis, 40% were identified by enhanced, interagency contact tracing and partner services; 26% through symptomatic testing; and 16% through screening of asymptomatic individuals as the result of an electronic medical record (EMR) screening prompt...
February 13, 2018: Sexually Transmitted Diseases
Katie T Carlberg, Sylvia T Singer, Elliott P Vichinsky
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation...
April 2018: Hematology/oncology Clinics of North America
Gloria Aguilar, Angélica Espinosa Miranda, George W Rutherford, Sergio Munoz, Nancy Hills, Tania Samudio, Fernando Galeano, Anibal Kawabata, Carlos Miguel Rios González
We estimated mortality rate and predictors of death in children and adolescents who acquired HIV through mother-to-child transmission in Paraguay. In 2000-2014, we conducted a cohort study among children and adolescents aged < 15 years. We abstracted data from medical records and death certificates. We used the Cox proportional hazards model for the multivariable analysis of mortality predictors. A total of 302 subjects were included in the survey; 216 (71.5%) were younger than 5 years, 148 (51.0%) were male, and 214 (70...
February 17, 2018: AIDS and Behavior
Rui Wang, Patrick Chien, Tak Yeung Leung
No abstract text is available yet for this article.
March 2018: BJOG: An International Journal of Obstetrics and Gynaecology
Tuangsit Wataganara, Jarunee Leetheeragul, Suchittra Pongprasobchai, Anuwat Sutantawibul, Chayawat Phatihattakorn, Surasak Angsuwathana
The benefit of the early administration of aspirin to reduce preterm pre-eclampsia among screened positive European women from multivariate algorithmic approach (ASPRE trial) has opened an intense debate on the feasibility of universal screening. This review aims to assess the new perspectives in the combined screening of pre-eclampsia in the first trimester of pregnancy and the chances for prevention using low-dose aspirin with special emphasis on the particularities of the Asian population. PubMed, CENTRAL and Embase databases were searched from inception until 15 November 2017 using combinations of the search terms: preeclampsia, Asian, prenatal screening, early prediction, ultrasonography, pregnancy, biomarker, mean arterial pressure, soluble fms-like tyrosine kinase-1, placental growth factor, pregnancy-associated plasma protein-A and pulsatility index...
February 14, 2018: Journal of Obstetrics and Gynaecology Research
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Lyn S Chitty, Louanne Hudgins, Mary E Norton
No abstract text is available yet for this article.
February 8, 2018: Prenatal Diagnosis
Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday
BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AIM: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. METHODS: Retrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria...
January 30, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Hanah Z Nasri, Kara Houde Ng, Marie-Noel Westgate, Anne-Therese Hunt, Lewis B Holmes
BACKGROUND: Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used to identify all malformed infants in a consecutive sample of births, can identify a distinctive pattern of malformations among the affected infants. METHODS: The infants of insulin-dependent, pregestational diabetic mothers were identified in the daily review of the medical records of each newborn infant with a malformation and her/his mother's medical record...
January 2018: Birth defects research
Jessica Lu, Devereux N Saller, Luanne M Fraer, Beatrice A Chen
Cell-free DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We performed a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital to evaluate patient choice and pregnancy outcomes. We analyzed data using descriptive statistics, Fisher's exact tests, and Wilcoxon rank-sum tests. Median maternal age was 36...
January 24, 2018: Journal of Genetic Counseling
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
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