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Prenatal Aneuploidy Screening

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https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#1
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/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#2
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
#3
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
#4
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/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#5
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27888703/the-association-between-prenatal-atrioventricular-septal-defects-and-chromosomal-abnormalities
#6
Maddalena Morlando, Amarnath Bhide, Alessandra Familiari, Asma Khalil, José Morales-Roselló, Aris T Papageorghiou, Julene S Carvalho
OBJECTIVE: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21. METHODS: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs...
October 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#7
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#8
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27829872/noninvasive-prenatal-testing-for-aneuploidy-using-cell-free-dna-new-implications-for-maternal-health
#9
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/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#10
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
November 4, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#11
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
#12
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/27757064/genomic-sequencing-in-clinical-practice-applications-challenges-and-opportunities
#13
Joel B Krier, Sarah S Kalia, Robert C Green
The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management...
September 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/27739584/trial-by-dutch-laboratories-for-evaluation-of-non-invasive-prenatal-testing-part-ii-women-s-perspectives
#14
Rachel V van Schendel, Lieve Page-Christiaens, Lean Beulen, Catia M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice...
October 14, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27739366/clinical-experience-of-non-invasive-prenatal-chromosomal-aneuploidy-testing-in-190-277-patient-samples
#15
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing in average...
October 13, 2016: Current Molecular Medicine
https://www.readbyqxmd.com/read/27739239/critical-congenital-heart-defects-and-abnormal-levels-of-routinely-collected-first-and-second-trimester-biomarkers
#16
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27738745/next-generation-molecular-diagnosis-single-cell-sequencing-from-bench-to-bedside
#17
Wanjun Zhu, Xiao-Yan Zhang, Sadie L Marjani, Jialing Zhang, Wengeng Zhang, Shixiu Wu, Xinghua Pan
Single-cell sequencing (SCS) is a fast-growing, exciting field in genomic medicine. It enables the high-resolution study of cellular heterogeneity, and reveals the molecular basis of complicated systems, which facilitates the identification of new biomarkers for diagnosis and for targeting therapies. It also directly promotes the next generation of genomic medicine because of its ultra-high resolution and sensitivity that allows for the non-invasive and early detection of abnormalities, such as aneuploidy, chromosomal translocation, and single-gene disorders...
October 13, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27725027/the-value-and-role-of-non-invasive-prenatal-testing-in-a-select-south-african-population
#18
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27716407/an-adaptive-detection-method-for-fetal-chromosomal-aneuploidy-using-cell-free-dna-from-447-korean-women
#19
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Minae An, Jungsu Ha, Kyusang Lee, Byung Chul Kim, Hailing Zheng, Xinqiang Zhu, Hongliang Chen, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing. METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea...
October 3, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27699200/informed-decision-making-about-prenatal-cfdna-screening-an-assessment-of-written-materials
#20
Marsha Michie, Stephanie A Kraft, Mollie A Minear, Roberta R Ryan, Megan A Allyse
OBJECTIVES: The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics. METHODS: Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions...
July 2016: Ethics, Medicine, and Public Health
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