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invasive prenatal tests

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https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#1
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#2
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#3
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#4
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#5
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28614867/indications-for-invasive-prenatal-testing-before-and-after-noninvasive-prenatal-screening
#6
Lisa A Gill, Tracy L Prosen
No abstract text is available yet for this article.
June 14, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#7
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28586143/current-status-of-non-invasive-prenatal-testing-in-japan
#8
Osamu Samura, Akihiko Sekizawa, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazuhisa Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Yasuhiro Kido, Toshiyuki Fukao, Norio Miharu, Takeshi Nagamatsu, Atsushi Watanabe, Naoki Hamajima, Masaya Hirose, Ayako Sanui, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
AIM: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. METHODS: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses...
June 6, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28585331/the-length-of-y-chromosomal-sequence-reads-in-non-invasive-prenatal-testing-reflect-allogeneic-bone-marrow-transplant
#9
Marie Balslev-Harder, Finn Stener Jørgensen, Susanne Kjaergaard, Peter Johansen
No abstract text is available yet for this article.
June 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#10
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28561435/comparing-methods-for-fetal-fraction-determination-and-quality-control-of-nipt-samples
#11
Daphne M van Beek, Roy Straver, Marian M Weiss, Elles M J Boon, Karin Huijsdens-van Amsterdam, Cees B M Oudejans, Marcel J T Reinders, Erik A Sistermans
OBJECTIVE: To compare available analysis methods for determining fetal fraction on single read Next Generation Sequencing data. This is important as the performance of Non-invasive Prenatal Testing procedures depends on the fraction of fetal DNA. METHODS: We tested six different methods for the detection of fetal fraction in NIPT samples. The same clinically obtained data were used for all methods, allowing us to assess the effect of fetal fraction on the test result, and to investigate the use of fetal fraction for quality control...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#12
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28514925/factors-affecting-cell-free-dna-fetal-fraction-and-the-consequences-for-test-accuracy
#13
Fergus Perry Scott, Melody Menezes, Ricardo Palma-Dias, Debbie Nisbet, Philip Schluter, Fabricio da Silva Costa, Andrew Cameron McLennan
INTRODUCTION: Biological factors are known to influence the fetal fraction (FF) of cell-free DNA and may also influence the accuracy of non-invasive prenatal testing. MATERIAL AND METHODS: NIPT from 5,267 mixed risk women across three specialist clinics in Australia were analysed. Multivariable regression analysis was used to determine whether maternal characteristics, ultrasound and placental biomarkers affect FF and test accuracy. RESULTS: FF ranged from 4% - 37% (mean 11...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28504327/preferences-for-prenatal-diagnosis-of-sickle-cell-disorder-a%C3%A2-discrete-choice-experiment-comparing-potential-service-users%C3%A2-and-health-care-providers
#14
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE: Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD: A questionnaire that includes a discrete choice experiment was used to determine the preferences of service users and providers for prenatal tests that varied across three attributes: accuracy, time of test and risk of miscarriage...
May 15, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28500333/novel-algorithms-for-improved-sensitivity-in-non-invasive-prenatal-testing
#15
L F Johansson, E N de Boer, H A de Weerd, F van Dijk, M G Elferink, G H Schuring-Blom, R F Suijkerbuijk, R J Sinke, G J Te Meerman, R H Sijmons, M A Swertz, B Sikkema-Raddatz
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples. Therefore, we have developed three algorithms to improve sensitivity and specificity: the chi-squared-based variation reduction (χ(2)VR), the regression-based Z-score (RBZ) and the Match QC score...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#16
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28485265/massively-parallel-sequencing-mps-of-cell-free-fetal-dna-cffdna-for-trisomies-21-18-and-13-in-twin-pregnancies
#17
Erqiu Du, Chun Feng, Yuming Cao, Yanru Yao, Jing Lu, Yuanzhen Zhang
Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton pregnancies. This study assessed the performance of MPS testing of cell-free fetal DNA (cffDNA) from maternal plasma for trisomies 21, 18, and 13 in twin pregnancies. Ninety-two women with twin pregnancies were recruited. The results were identified through karyotypes of amniocentesis or clinical examination and follow-up of the neonates. Fluorescent in-situ hybridization was used to examine the placentas postnatally in cases of false-positive results...
June 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28463390/sfog-ger-nationella-riktlinjer-f%C3%A3-r-fosterdiagnostik-med-nipt-information-genetisk-v%C3%A3-gledning-och-informerat-val-grunden-f%C3%A3-r-analys-av-foster-dna-i-blodprov-fr%C3%A3-n-kvinnan
#18
Charlotta Ingvoldstad Malmgren, Erik Iwarsson, Niklas Juth, Peter Lindgren
NIPT - implentation, counselling and ethical issues It is today possible to analyze cell-free fetal DNA from a blood sample from the pregnant woman, i.e. non-invasive prenatal testing, NIPT. Thus, by a simple blood test from the mother you can detect trisomy 13, 18 and 21 in the fetus with high accuracy. However, NIPT is not a diagnostic test and a positive result should be confirmed by an invasive test, like chorionic villus sampling or amniocentesis. There are national guidelines from the Swedish Society of Obstetrics and Gynaecology (SFOG) on how to implement and use NIPT for trisomies in the Swedish health care...
May 2, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28456373/book-genetics-for-obstetricians-and-gynaecologists-chapter-genetic-markers-on-ultrasound-scan
#19
REVIEW
Janani Sivanathan, Basky Thilaganathan
Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced...
March 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28449648/development-and-evaluation-of-training-resources-to-prepare-health-professionals-for-counselling-pregnant-women-about-non-invasive-prenatal-testing-for-down-syndrome-a-mixed-methods-study
#20
Kerry Oxenford, Rebecca Daley, Celine Lewis, Melissa Hill, Lyn S Chitty
BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. METHODS: Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service...
April 27, 2017: BMC Pregnancy and Childbirth
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