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"Prenatal Screening"

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https://www.readbyqxmd.com/read/29143321/interobserver-agreement-on-standardized-ultrasound-and-histopathologic-signs-for-the-prenatal-diagnosis-of-placenta-accreta-spectrum-disorder
#1
Nurit Zosmer, Eric Jauniaux, Catey Bunce, Jenie Panaiotova, Hizbullah Shaikh, Kypros H Nicholaides
OBJECTIVE: To evaluate interobserver agreement in assessment of ultrasound signs and histopathologic findings associated with placenta accreta spectrum (PAS) disorders. METHODS: A retrospective study was conducted using data for patients prenatally diagnosed with PAS disorders at a UK hospital between January 31, 2012, and March 30, 2017. Ultrasound images (including gray-scale and color Doppler imaging [CDI] parameters) and histopathologic slides were reviewed by two observers; the level of agreement was calculated...
November 16, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#2
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29131052/prenatal-screening-for-22q11-2-deletion-using-a-targeted-microarray-based-cell-free-dna-test
#3
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks, Jacques C Jani, Renee Stokowski
OBJECTIVE: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion. METHODS: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing...
November 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29128491/screening-for-fetal-chromosomal-and-subchromosomal-disorders
#4
REVIEW
Sarah Harris, Dallas Reed, Neeta L Vora
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders...
November 8, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#5
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29121006/origin-and-clinical-relevance-of-chromosomal-aberrations-other-than-the-common-trisomies-detected-by-genome-wide-nips-results-of-the-trident-study
#6
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom, Shama L Bhola, Mariette J V Hoffer, Karin Huijsdens-van Amsterdam, Merryn V Macville, Angelique J A Kooper, Brigitte H W Faas, Lutgarde Govaerts, Gita M Tan-Sindhunata, Nicolette den Hollander, Ilse Feenstra, Robert-Jan H Galjaard, Dick Oepkes, Stijn Ghesquiere, Rutger W W Brouwer, Lean Beulen, Sander Bollen, Martin G Elferink, Roy Straver, Lidewij Henneman, Godelieve C Page-Christiaens, Erik A Sistermans
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120459/informative-priors-on-fetal-fraction-increase-power-of-the-noninvasive-prenatal-screen
#7
Hanli Xu, Shaowei Wang, Lin-Lin Ma, Shuai Huang, Lin Liang, Qian Liu, Yang-Yang Liu, Ke-Di Liu, Ze-Min Tan, Hao Ban, Yongtao Guan, Zuhong Lu
PurposeNoninvasive prenatal screening (NIPS) sequences a mixture of the maternal and fetal cell-free DNA. Fetal trisomy can be detected by examining chromosomal dosages estimated from sequencing reads. The traditional method uses the Z-test, which compares a subject against a set of euploid controls, where the information of fetal fraction is not fully utilized. Here we present a Bayesian method that leverages informative priors on the fetal fraction.MethodOur Bayesian method combines the Z-test likelihood and informative priors of the fetal fraction, which are learned from the sex chromosomes, to compute Bayes factors...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29094357/systematic-review-and-meta-analysis-of-the-performance-of-second-trimester-screening-for-prenatal-detection-of-congenital-heart-defects
#8
Christine L van Velzen, Johannes C F Ket, Peter M van de Ven, Nico A Blom, Monique C Haak
BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVE: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study...
November 2, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29093756/a-case-of-placental-trisomy-18-mosaicism-causing-a-false-negative-nipt-result
#9
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29091172/-voluntary-versus-health-professional-initiated-hiv-testing-a-population-based-study-in-women-in-a-city-in-southern-brazil
#10
Marilia Arndt Mesenburg, Fernando César Wehrmeister, Mariângela Freitas da Silveira
This was a cross-sectional population-based study that aimed to describe the prevalence of HIV testing and associated factors in women in Pelotas, Rio Grande do Sul State, Brazil. A total of 1,222 women were interviewed. We estimated the overall testing prevalence (yes/no) and prevalence disaggregated by testing ordered by a health professional versus voluntary testing. Test prevalence was 66.1% (95%CI: 63.4-68.8): 52.4% for testing ordered by a health professional (95%CI: 49.6-55.2) and 13.6% for spontaneous testing (95%CI: 11...
October 26, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29080223/comparison-of-first-tier-cell-free-dna-screening-for-common-aneuploidies-with-conventional-publically-funded-screening
#11
Sylvie Langlois, JoAnn Johnson, François Audibert, Jean Gekas, Jean Claude Forest, André Caron, Keli Harrington, Melanie Pastuck, Hasna Meddour, Amélie Tétu, Julian Little, François Rousseau
OBJECTIVE: This study evaluates the impact of offering cfDNA screening as a first tier test for trisomies 21 and 18. METHODS: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies. RESULTS: 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate of 5...
October 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29067542/women-s-understanding-and-attitudes-towards-down-syndrome-and-other-genetic-conditions-in-the-context-of-prenatal-screening
#12
Sarah Long, Peter O'Leary, Roanna Lobo, Jan E Dickinson
In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women's attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia...
October 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29060631/automatic-measurement-of-fetal-nuchal-translucency-from-three-dimensional-ultrasound-data
#13
Siqing Nie, Jinhua Yu, Ping Chen, Yuanyuan Wang, Yi Guo, Jian Qiu Zhang
The Nuchal translucency (NT), which is the collection of fluid at the back of the fetal neck, is related to chromosomal defects and early cardiac failure in first trimester of pregnancy. In clinic, the thickness of NT is used as an important marker in prenatal screening, and is manually measured by sonographers in the mid-sagittal plane. In this paper, an automatic method based on dynamic programming is proposed to detect the thickness and area of NT in the mid-sagittal plane. Furthermore, the volume of NT in the whole three-dimensional ultrasound data is also measured...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29059453/what-s-new-in-prenatal-genetics-a-review-of-current-recommendations-and-guidelines
#14
Annalisa L Post, Amy T Mottola, Jeffrey A Kuller
Importance: The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice. Objective: We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines. Evidence Acquisition: We performed a descriptive review of 8 recently published (2016-2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29055174/maternal-outcomes-in-first-and-second-trimester-termination-of-pregnancy-which-are-the-risk-factors
#15
Giulia Garofalo, Anna Garofalo, Olga Sochirca, Maria Grazia Alemanno, Eleonora Pilloni, Marilisa Biolcati, Elisabetta Muccinelli, Elsa Viora, Tullia Todros
AIMS: To evaluate maternal complications of first trimester and second trimester termination of pregnancy (TOP) performed after first or second trimester positive prenatal diagnosis (PD). RESULTS: We performed a retrospective study from January 2007 to December 2011, on 844 patients, who underwent a TOP after positive amniocentesis or chorionic villus sampling (CVS) for foetal aneuploidies, performed for maternal age ≥35 years of age, positive prenatal screening (PS) or for genetic reasons...
October 21, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29040895/economic-analysis-of-prenatal-screening-strategies-for-down-syndrome-in-singleton-pregnancies-in-turkey
#16
Zeynep Güldem Ökem, Gökçen Örgül, Berna Tari Kasnakoglu, Mehmet Çakar, M Sinan Beksaç
OBJECTIVES: To examine the costs and outcomes of different screening strategies for Down Syndrome (DS) in singleton pregnancies. STUDY DESIGN: A decision-analytic model was developed to compare the costs and the outcomes of different prenatal screening strategies. Five strategies were compared for women under 35-year of age: 1A) triple test (TT), 2A); combined test (CT), 3A) Non-invasive Prenatal Screening Test by using cell free fetal DNA (NIPT), 4A) and 5A) NIPT as a second-step screening for high-risk patients detected by either TT, or CT respectively...
October 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29039168/-maternal-serum-alpha-fetoprotein-and-free-%C3%AE-hcg-of-second-trimester-for-screening-of-fetal-gastroschisis-and-omphalocele
#17
Yiming Chen, Wen Zhang, Sha Lu, Jin Mei, Hao Wang, Shan Wang, Linyuan Gu, Lidan Zhang, Xuelian Chu
OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039166/-detection-of-cell-free-fetal-dna-in-maternal-plasma-for-noninvasive-prenatal-screening-of-fetal-chromosomal-aneuploidies-in-women-of-advanced-maternal-age
#18
Hui Zhu, Zhengyou Miao, Yeqing Qian, Hongge Li, Jinglei Jin, Jing He, Minyue Dong
OBJECTIVE: To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. METHODS: A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29036772/non-invasive-prenatal-testing
#19
James Harraway
BACKGROUND: Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand. OBJECTIVE: This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests...
October 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29034302/comparison-of-two-immunoassay-systems-for-hcg%C3%AE-and-papp-a-in-prenatal-screening-for-trisomy-21-18-and-13-in-the-first-trimester
#20
Anna Elise Engell, Elin Rebecka Carlsson, Finn Stener Jørgensen, Steen Sørensen
OBJECTIVES: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein A (PAPP-A), used in screening for trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) during the first trimester, can be measured on different laboratory instruments e.g. Kryptor (Brahms) and Cobas (Roche). We compared the performance of these two analytical instruments when used for first trimester combined testing. DESIGN AND METHODS: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP-A on Kryptor, and re-analyzed on Cobas...
December 2017: Pract Lab Med
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