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invasive prenatal tests

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https://www.readbyqxmd.com/read/28102322/size-selective-separation-and-overall-amplification-of-cell-free-fetal-dna-fragments-using-pcr-based-enrichment
#1
Qiwei Yang, Zhenwu Du, Yang Song, Sujie Gao, Shan Yu, He Zhu, Ming Ren, Guizhen Zhang
This study aimed to establish a method for the selective amplification of cell-free fetal DNA (cffDNA) in maternal plasma and preserve the integrity of DNA fragments during amplification, thereby providing a sufficient amount of cffDNA to meet the requirement of routine non-invasive prenatal testing. We amplified DNA molecules in a one-reaction system without considering their particular sequences and lengths (overall amplification) by using PCR-based enrichment. We then modified PCR conditions to verify the effect of denaturation temperature on DNA amplification on various lengths of DNA (selective overall amplification)...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101646/pedigree-based-relationship-inference-from-complex-dna-mixtures
#2
Guro Dørum, Navreet Kaur, Mario Gysi
We present a general method for analysing DNA mixtures involving relatives that accounts for dropout and drop-in, mutations, silent alleles and population substructure. Whether the aim is to identify the contributors to a mixture who may be related, or to determine the relationship between individuals based on a DNA mixture, both types of problems can be handled by the method and software presented here. We focus on the latter scenario, motivated by non-invasive prenatal paternity testing where the profile of the child is available only in the form of a mixture with the mother's profile...
January 19, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#3
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28081297/first-trimester-noninvasive-fetal-rhd-genotyping-using-maternal-dried-blood-spots
#4
Yali Xiong, Stacey Jeronis, Barbara Hoffman, Dan A Liebermann, Ossie Geifman-Holtzman
OBJECTIVE: This study was aimed to evaluate whether maternal dried blood spots (DBS) could be a potential source for the non-invasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD: Both the DBS and the peripheral blood samples from nineteen RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and Sequential Real-time PCRs were performed to determine the fetal RHD genotypes...
January 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28062017/non-invasive-prenatal-testing-and-the-unveiling-of-an-impaired-translation-process
#5
Blake Murdoch, Vardit Ravitsky, Ubaka Ogbogu, Sarah Ali-Khan, Gabrielle Bertier, Stanislav Birko, Tania Bubela, Jeremy De Beer, Charles Dupras, Meika Ellis, Palmira Granados Moreno, Yann Joly, Kalina Kamenova, Zubin Master, Alessandro Marcon, Mike Paulden, François Rousseau, Timothy Caulfield
Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation...
January 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28056858/the-impact-of-national-prenatal-screening-on-the-time-of-diagnosis-and-outcome-of-pregnancies-affected-with-common-trisomies-a-cohort-study-in-the-northern-netherlands
#6
Katelijne Bouman, Marian K Bakker, Erwin Birnie, Lies Ter Beek, Caterina M Bilardo, Irene M van Langen, Hermien E K de Walle
BACKGROUND: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). METHODS: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy cases born between 2005 and 2012. Screening tests and invasive procedures, timing of diagnosis and pregnancy outcome were compared between the period before (2005-2006) and after introduction (2007-2012) using X (2) tests...
January 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28056555/a-prospective-clinical-trial-to-compare-the-performance-of-dried-blood-spots-prenatal-screening-for-down-s-syndrome-with-conventional-non-invasive-testing-technology
#7
Huiying Hu, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, Liangkun Ma
To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28054963/liquid-biopsies-for-cancer-coming-to-a-patient-near-you
#8
REVIEW
Nithya Krishnamurthy, Emily Spencer, Ali Torkamani, Laura Nicholson
The use of circulating tumor DNA (ctDNA) as a novel and non-invasive test for the diagnosis and surveillance of cancer is a rapidly growing area of interest, with sequencing of ctDNA acting as a potential surrogate for tissue biopsy. Circulating tumor DNA has been detected incidentally during noninvasive prenatal testing and additionally in more than 75% of known cancer patients participating in ctDNA studies evaluating its sensitivity. In the setting of mutation-based targeted tumor therapy, it shows a concordance rate >80% when compared with gold-standard tissue biopsies...
January 4, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28040480/non-invasive-prenatal-diagnosis-nipd-of-cystic-fibrosis-an-optimized-protocol-using-memo-fluorescent-pcr-to-detect-the-p-phe508del-mutation
#9
C Guissart, C Dubucs, C Raynal, A Girardet, F Tran Mau Them, V Debant, C Rouzier, A Boureau-Wirth, E Haquet, J Puechberty, E Bieth, D Dupin Deguine, P Khau Van Kien, M P Brechard, V Pritchard, M Koenig, M Claustres, M C Vincent
BACKGROUND: Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited by the availability of suitable technical platforms and the need to set up patient or disease-specific custom-made approaches. METHODS: To make research applications more readily accessible to the clinic, we offer a simple assay combining two independent methods to determine the presence or absence of paternally inherited foetal allele p...
December 28, 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#10
Andreas Neocleous, Kypros Nicolaides, Christos Schizas
The objective of this work is to introduce a noninvasive diagnosis procedure for aneuploidy and minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus...
December 22, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28001177/uromodulin-a-new-biomarker-of-fetal-renal-function
#11
Thais Emanuelle Faria Botelho, Alamanda Kfoury Pereira, Patrícia Gonçalves Teixeira, Eura Martins Lage, Gabriel Costa Osanan, Ana Cristina Simões E Silva
INTRODUCTION: Obstructive uropathies are main diseases affecting the fetus. Early diagnosis allows to establish the appropriate therapy to minimize the risk of damage to kidney function at birth. Biochemical markers have been used to predict the prognosis of renal function in fetuses. Uromodulin, also known by Tamm-Horsfall protein (THP) is exclusively produced in the kidneys and in normal conditions is the protein excreted in larger amounts in human urine. It plays important roles in kidneys and urinary tract...
December 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/27973080/cost-effectiveness-analysis-of-non-invasive-prenatal-testing-for-down-s-syndrome-in-china
#12
Y Xu, Y Chen, N Li, J Ming
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27972316/systematic-review-of-cost-effectiveness-analysis-cea-of-the-cell-free-dna-cfdna-non-invasive-prenatal-test-nipt-for-trisomy-21-t21-screening
#13
M Bourdoncle, J Li, A Berthelot, M Cognet, C Sambuc, O Scemama, C Rumeau-Pichon
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27958633/nasal-bone-in-screening-for-t21-at-11-13-6-weeks-of-gestation-a-multicenter-study
#14
Piotr Węgrzyn, Bartosz Czuba, Dawid Serafin, Wojciech Cnota, Mariusz Dubiel, Marek Mączka, Dariusz Zarotyński, Aleksandra Ruci, Mirosław Wielgoś, Krzysztof Sodowski, Dariusz Borowski
OBJECTIVES: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free β-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). MATERIAL AND METHODS: Ultrasound scan with NB evaluation was performed in 5814 fetuses during routine screening for chromosomal defects at 11 to 13 + 6 weeks of gestation...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#15
C Y Y Hui, W C Tan, E L Tan, L K Tan
We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping...
December 5, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27917919/niptric-an-online-tool-for-clinical-interpretation-of-non-invasive-prenatal-testing-nipt-results
#16
Birgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, Elles M J Boon, Ron F Suijkerbuijk, Katelijne Bouman, Catia M Bilardo, Morris A Swertz, Martijn Dijkstra, Irene M van Langen, Richard J Sinke, Gerard J Te Meerman
To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#17
Myrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, Scott M Nelson, Jill P Pell
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time...
2016: PloS One
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#18
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#19
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#20
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
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