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https://www.readbyqxmd.com/read/29661182/women-s-perspectives-on-the-ethical-implications-of-non-invasive-prenatal-testing-a-qualitative-analysis-to-inform-health-policy-decisions
#1
Meredith Vanstone, Alexandra Cernat, Jeff Nisker, Lisa Schwartz
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values...
April 16, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29618827/niptmer-rapid-k-mer-based-software-package-for-detection-of-fetal-aneuploidies
#2
Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool - NIPTmer - is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29605711/fetal-cell-free-dna-fraction-in-maternal-plasma-for-the-prediction-of-hypertensive-disorders-of-pregnancy
#3
Nobuhiro Suzumori, Akihiko Sekizawa, Takeshi Ebara, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Haruna Izumi, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi 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, Takeshi Nagamatsu, Atsushi Watanabe, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
OBJECTIVE: The purpose of this study is to compare the fetal fractions during non-invasive prenatal testing (NIPT) in singleton pregnancies according to gestational age and maternal characteristics to evaluate the utility of this parameter for the prediction of pregnancy complications including gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP). STUDY DESIGN: This study was a multicenter prospective cohort study. The present data were collected from women whose NIPT results were negative...
March 26, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29595011/-incidental-findings-of-maternal-genetic-abnormalities-during-non-invasive-prenatal-screening
#4
F Léonard, Renaud Gueben, Robin Gueben, B Grisart, C Van Linthout
The non-invasive prenatal test (NIPT) has recently been added in our clinical practice. Sensitivity and specificity of this method in the common fetal aneuploidies screening is about 99 %. This technique remains a screening test, not a diagnosis test, because false positive or negative results exist. The discordant results are explained by the method itself witch analyses the whole free circulating DNA in the maternal blood: the fetal DNA from trophoblastic cells lysing but also the maternal DNA. Placenta confined mosaic is the main false positive cause reported in the literature...
March 2018: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29580376/high-throughput-non-invasive-prenatal-testing-for-fetal-rhesus-d-status-in-rhd-negative-women-not-known-to-be-sensitised-to-the-rhd-antigen-a-systematic-review-and-economic-evaluation
#5
Pedro Saramago, Huiqin Yang, Alexis Llewellyn, Ruth Walker, Melissa Harden, Stephen Palmer, Susan Griffin, Mark Simmonds
BACKGROUND: High-throughput non-invasive prenatal testing (NIPT) for fetal rhesus (D antigen) (RhD) status could avoid unnecessary treatment with routine anti-D immunoglobulin for RhD-negative women carrying a RhD-negative fetus, although this may lead to an increased risk of RhD sensitisations. OBJECTIVES: To systematically review the evidence on the diagnostic accuracy, clinical effectiveness and implementation of high-throughput NIPT and to develop a cost-effectiveness model...
March 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29575086/application-of-noninvasive-prenatal-testing-in-pregnancies-with-fetal-double-bubble-sign-is-it-feasible
#6
Lv-Yin Huang, Li Zhen, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. METHODS: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies...
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29550971/talking-points-women-s-information-needs-for-informed-decision-making-about-noninvasive-prenatal-testing-for-down-syndrome
#7
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29544746/non-invasive-prenatal-testing-in-detecting-sex-chromosome-aneuploidy-a-large-scale-study-in-xuzhou-area-of-china
#8
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29531245/using-massively-parallel-shotgun-sequencing-of-maternal-plasmatic-cell-free-dna-for-cytomegalovirus-dna-detection-during-pregnancy-a-proof-of-concept-study
#9
Virginie Chesnais, Alban Ott, Emmanuel Chaplais, Samuel Gabillard, Diego Pallares, Christelle Vauloup-Fellous, Alexandra Benachi, Jean-Marc Costa, Eric Ginoux
Human cytomegalovirus (HCMV) primary infections of pregnant women can lead to congenital infections of the fetus that could have severe impacts on the health of the newborn. Recent studies have shown that 10-100 billion DNA fragments per milliliter of plasma are circulating cell-free. The study of this DNA has rapidly expanding applications to non-invasive prenatal testing (NIPT). In this study, we have shown that we can detect viral specific reads in the massively parallel shotgun sequencing (MPSS) NIPT data...
March 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29530134/new-screen-on-the-block-non-invasive-prenatal-testing-for-fetal-chromosomal-abnormalities
#10
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
https://www.readbyqxmd.com/read/29507621/non-invasive-prenatal-diagnosis-of-chromosomal-aneuploidies-and-microdeletion-syndrome-using-fetal-nucleated-red-blood-cells-isolated-by-nanostructure-microchips
#11
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
https://www.readbyqxmd.com/read/29474437/validation-of-a-snp-based-non-invasive-prenatal-test-to-detect-the-fetal-22q11-2-deletion-in-maternal-plasma-samples
#12
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko
INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further demonstrate the performance of a revised version of the test in a larger set of pregnancy plasma samples...
2018: PloS One
https://www.readbyqxmd.com/read/29423788/evaluation-of-extraction-methods-for-methylated-cell-free-fetal-dna-from-maternal-plasma
#13
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
PURPOSE: Recently, fetal placenta-specific epigenetic regions (FSERs) have been identified for quantification of cell-free fetal DNA (cff-DNA) for non-invasive prenatal testing (NIPT). The aim of this study was to evaluate the efficiencies of a column-based kit and magnetic bead-based kit for quantification of methylated FSERs from maternal plasma. METHODS: Maternal plasma was extracted from normal pregnant women within the gestational age of 10~13 weeks (n = 24)...
February 8, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#14
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
https://www.readbyqxmd.com/read/29415334/high-throughput-non-invasive-prenatal-testing-for-fetal-rhd-genotype-to-guide-antenatal-prophylaxis-with-anti-d-immunoglobulin-a-cost-effectiveness-analysis
#15
Pedro Saramago, Huiqin Yang, Alexis Llewellyn, Stephen Palmer, Mark Simmonds, Susan Griffin
OBJECTIVE: To evaluate the cost-effectiveness of high-throughput, non-invasive prenatal testing (HT-NIPT) for fetal RhD genotype to guide antenatal prophylaxis with anti-D immunoglobulin compared to routine antenatal anti-D immunoglobulin prophylaxis (RAADP). DESIGN: Cost-effectiveness decision-analytic modelling. SETTING: Primary care. PARTICIPANTS: A simulated population of 100,000 RhD negative women not known to be sensitised to the RhD antigen...
February 7, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#16
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell-free maternal plasma DNA in the maternal blood plasma. However, false positive and negative non-invasive prenatal testing (NIPT) results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA screening...
March 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29380343/prenatal-diagnosis-and-socioeconomic-status-in-the-non-invasive-prenatal-testing-era-a-population-based-study
#17
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
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#18
EDITORIAL
P Benn, F R Grati
No abstract text is available yet for this article.
April 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#19
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase ( PAH ) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29338128/clinical-experience-of-laboratory-follow-up-with-noninvasive-prenatal-testing-using-cell-free-dna-and-positive-microdeletion-results-in-349-cases
#20
S Schwartz, M Kohan, R Pasion, P R Papenhausen, L D Platt
OBJECTIVE: Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. METHODS: Patients that were screened positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q who underwent diagnostic studies by either chorionic villus sampling or amniocentesis were evaluated...
February 2018: Prenatal Diagnosis
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