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Noninvasive prenatal screening

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https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#1
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#2
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#3
Carole Samango-Sprouse, Colleen Keen, Teresa Sadeghin, Andrea Gropman
OBJECTIVE: The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification. METHOD: A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques. RESULTS: As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#4
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#5
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#6
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28277305/current-genetic-testing-tools-in-neonatal-medicine
#7
REVIEW
Seema R Lalani
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates...
April 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#8
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28081297/first-trimester-noninvasive-fetal-rhd-genotyping-using-maternal-dried-blood-spots
#9
Yali Xiong, Stacey Jeronis, Barbara Hoffman, Dan A Liebermann, Ossie Geifman-Holtzman
OBJECTIVE: This study was aimed to evaluate whether maternal dried blood spots could be a potential source for the noninvasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD: Both the maternal dried blood spots and the peripheral blood samples from 19 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/28043739/canadian-cardiovascular-society-canadian-pediatric-cardiology-association-position-statement-on-pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#10
Kenny K Wong, Anne Fournier, Deborah S Fruitman, Lisa Graves, Derek G Human, Michael Narvey, Jennifer L Russell
Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity...
February 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#11
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/27990344/applicability-of-digital-pcr-to-the-investigation-of-pediatric-onset-genetic-disorders
#12
REVIEW
Matthew E R Butchbach
Early-onset rare diseases have a strong impact on child healthcare even though the incidence of each of these diseases is relatively low. In order to better manage the care of these children, it is imperative to quickly diagnose the molecular bases for these disorders as well as to develop technologies with prognostic potential. Digital PCR (dPCR) is well suited for this role by providing an absolute quantification of the target DNA within a sample. This review illustrates how dPCR can be used to identify genes associated with pediatric-onset disorders, to identify copy number status of important disease-causing genes and variants and to quantify modifier genes...
December 2016: Biomolecular Detection and Quantification
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#13
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#14
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
#15
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/27829872/noninvasive-prenatal-testing-for-aneuploidy-using-cell-free-dna-new-implications-for-maternal-health
#16
REVIEW
Lisa Hui
The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternal health. Specific maternal conditions that can affect the performance of noninvasive prenatal testing include obesity, active autoimmune disease and low molecular weight heparin treatment. There is also a growing appreciation of the implications of discordant noninvasive prenatal testing results for maternal health, including unexpected diagnoses of maternal chromosomal conditions, or rarely, occult cancer...
December 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#17
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#18
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27756173/quad-versus-cfdna-in-an-urban-population-in-the-second-trimester-for-detection-of-trisomy-21-a-cost-sensitivity-analysis
#19
Sarah Crimmins, Lauren Doyle, Julia Slejko, Jerome N Kopelman, Ozhan Turan
OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cell-free DNA [cfDNA]) in an urban population who did not have first-trimester screening as a primary screening tool for trisomy 21 (T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013 to 2015. All QUAD screen performed between 15 and 21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information...
November 9, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27732785/noninvasive-prenatal-dna-testing-the-vanguard-of-genomic-medicine
#20
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about maternofetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent post-test management recommendations for those with discordant test results...
January 14, 2017: Annual Review of Medicine
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