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https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#1
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/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#2
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#3
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters
Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#4
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/28299578/future-science-prize-goes-to-non-invasive-prenatal-testing
#5
Kang Li, Yaou Duan, Magdalene Yin Lin Ting, Zhiying Ou, Li Liu, Kang Zhang, Xin Fu
No abstract text is available yet for this article.
March 13, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28295384/noninvasive-fetal-genotyping-of-paternally-inherited-alleles-using-targeted-massively-parallel-sequencing-in-parentage-testing-cases
#6
Donggui Yang, Hao Liang, Yu Gao, Shaobin Lin, Zhiming He, Jun Gao, Hongyu Sun, Qing Li, Xiaoyan Ma, Xueling Ou
BACKGROUND: Researchers have sought to develop a noninvasive protocol for paternity analysis that uses fetal cell-free DNA (cfDNA) in maternal plasma. Massively parallel sequencing (MPS) is expected to overcome this challenge because it enables the analysis of millions of DNA molecules at a single-base resolution. STUDY DESIGN AND METHODS: Seven women were involved in prenatal paternity testing cases. Before conventional invasive procedures, cfDNA was isolated from maternal plasma...
March 10, 2017: Transfusion
https://www.readbyqxmd.com/read/28295291/study-of-the-extent-of-information-desired-by-women-undergoing-non-invasive-prenatal-testing-following-positive-prenatal-down-syndrome-screening-test-results
#7
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them [1]. It has been recommended that healthcare practitioners understand patient preferences thoroughly [1], and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information [2, 3]. However, how much information patients want from NIPTs in a real-life clinical setting remains unknown...
March 12, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28295165/declining-invasive-prenatal-diagnostic-procedures-a-comparison-of-tertiary-hospital-and-national-data-from-2012-to-2015
#8
Kristine Johnson, Joanne Kelley, Virginia Saxton, Susan P Walker, Lisa Hui
BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling (CVS), creating new implications for specialist training. OBJECTIVE: To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015. METHODS: Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015...
March 13, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28261902/estimates-of-live-birth-prevalence-of-children-with-down-syndrome-in-the-period-1991-2015-in-the-netherlands
#9
G de Graaf, J J M Engelen, A C J Gijsbers, R Hochstenbach, M J V Hoffer, A J A Kooper, B Sikkema-Raddatz, M I Srebniak, A M F van der Kevie-Kersemaekers, L J C M van Zutven, E Voorhoeve
BACKGROUND: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB) prevalence as well. The aim of this study is to examine these factors in the Netherlands for the period 1991-2015. In our study, we establish a baseline for DS LB prevalence before non-invasive prenatal testing will be made available to all pregnant women in the Netherlands in 2017...
March 5, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28258603/incidence-of-an-aberrant-right-subclavian-artery-on-second-trimester-sonography-in-an-unselected-population
#10
Selen Gursoy Erzincan, Burcin Karamustafaoglu Balci, Cengiz Tokgoz, Ibrahim Halil Kalelioglu
OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1...
March 4, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28248967/improving-the-positive-predictive-value-of-non-invasive-prenatal-screening-nips
#11
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies with known aneuploidy status were used for assay development, verification, and validation. Assay verification studies using 2,085 known samples (1873 unaffected, 69 trisomy 21, 20 trisomy 18, 17 trisomy 13) demonstrated complete discrimination between autosomal trisomy (Z scores >8) and unaffected (Z scores <4) singleton pregnancies...
2017: PloS One
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d-ultrasound-and-statistical-shape-modelling-a-feasibility-study
#12
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using three-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and non invasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal three-dimensional ultrasound volumes and statistical shape modelling...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#13
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#14
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28179200/laparoscopic-management-of-abdomininal-pregnancy
#15
Francesco Cosentino, Cristiano Rossitto, Luigi Carlo Turco, Salvatore Gueli Alletti, Carmine Vascone, Lavinia Di Meglio, Giovanni Scambia, Mario Malzoni
CASE REPORT OBJECTIVE: To show the surgical management in laparoscopy of a particular localization of an extra-uterine pregnancy misunderstood until 12 week of EG complicated by hemoperitoneum and abortion. BACKGROUND: The prevalence of ectopic pregnancy among women who go to an emergency department with first trimester bleeding, pain, or both ranges from 1 to 16 percent [1]. The most common localization of ectopic pregnancy are the Fallopian tubes while abdominal pregnancy represent at least 1 percent of extra-uterine pregnancies...
February 4, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28158220/targeted-capture-enrichment-assay-for-non-invasive-prenatal-testing-of-large-and-small-size-sub-chromosomal-deletions-and-duplications
#16
Maria C Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with genetic syndromes can also be detected in the fetus noninvasively. There are still limitations on these methodologies such as the detection of variants of unknown clinical significance, high number of false positives, and difficulties to detect small aberrations...
2017: PloS One
https://www.readbyqxmd.com/read/28152582/contribution-of-maternal-copy-number-variations-to-false-positive-fetal-trisomies-detected-by-noninvasive-prenatal-testing
#17
Xiya Zhou, Lili Sui, Yalan Xu, Yijun Song, Qingwei Qi, Jianguang Zhang, Hongmin Zhu, Huaiyu Sun, Feng Tian, Mengnan Xu, David S Cram, Juntao Liu
OBJECTIVE: The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false-positive noninvasive prenatal testing (NIPT) trisomy results. METHODS: A total of 112 021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing, and results reported as chromosome Z-scores. Copy number variation sequencing (CNV-Seq) was used to detect maternal DNA CNVs...
February 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28120840/non-invasive-prenatal-diagnosis-of-spinal-muscular-atrophy-by-relative-haplotype-dosage
#18
Michael Parks, Samantha Court, Benjamin Bowns, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene...
January 25, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#19
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
April 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#20
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes towards NIPT among obstetricians in Pakistan, a developing, Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
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