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https://www.readbyqxmd.com/read/28081297/first-trimester-noninvasive-fetal-rhd-genotyping-using-maternal-dried-blood-spots
#1
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
#2
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/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
#3
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/28056489/use-of-high-frequency-ultrasound-to-study-the-prenatal-development-of-cranial-neural-tube-defects-and-hydrocephalus-in-gldc-deficient-mice
#4
Maria C Autuori, Yun J Pai, Daniel J Stuckey, Dawn Savery, Anna M Marconi, Valentina Massa, Mark F Lythgoe, Andrew J Copp, Anna L David, Nicholas D E Greene
OBJECTIVE: We used non-invasive high frequency ultrasound (HFUS) imaging to investigate embryonic brain development in a mouse model for neural tube defects (NTDs) and Non-Ketotic Hyperglycinemia (NKH). METHOD: Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans. We serially examined the same litter during the second half of embryonic development and quantified cerebral structures...
January 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28054963/liquid-biopsies-for-cancer-coming-to-a-patient-near-you
#5
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
#6
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
#7
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/28012571/perinatal-nutrition-interventions-and-post-partum-depressive-symptoms
#8
REVIEW
Jacqueline F Gould, Karen Best, Maria Makrides
BACKGROUND: Postpartum depression (PPD) is the most prevalent mood disorder associated with childbirth. No single cause of PPD has been identified, however the increased risk of nutritional deficiencies incurred through the high nutritional requirements of pregnancy may play a role in the pathology of depressive symptoms. Three nutritional interventions have drawn particular interest as possible non-invasive and cost-effective prevention and/or treatment strategies for PPD; omega-3 (n-3) long chain polyunsaturated fatty acids (LCPUFA), vitamin D and overall diet...
December 18, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27988188/environmental-exposure-to-ddt-and-its-metabolites-in-cord-serum-distribution-enantiomeric-patterns-and-effects-on-infant-birth-outcomes
#9
Chenye Xu, Shanshan Yin, Mengling Tang, Kai Liu, Fangxin Yang, Weiping Liu
Previous in vivo studies have suggested that prenatal exposure to dichlorodiphenyltrichloroethane (DDT) is endocrine disrupting, and may cause adverse health risks to newborns. In this cross-sectional study, non-invasive cord serum samples were collected from maternal-neonate pairs of an island population. Concentrations of DDT and its metabolites were analyzed to provide insights into the environmental exposure patterns and to elucidate their effects on birth outcomes. The average concentrations of p,p'-DDE, o,p'-DDD, p,p'-DDD, o,p'-DDT, p,p'-DDT and total DDTs were 0...
December 15, 2016: Science of the Total Environment
https://www.readbyqxmd.com/read/27973080/cost-effectiveness-analysis-of-non-invasive-prenatal-testing-for-down-s-syndrome-in-china
#10
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
#11
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/27960615/posttraumatic-stress-and-depression-may-undermine-abuse-survivors-self-efficacy-in-the-obstetric-care-setting
#12
Natalie R Stevens, Vanessa Tirone, Teresa A Lillis, Lucie Holmgreen, Allison Chen-McCracken, Stevan E Hobfoll
INTRODUCTION: Posttraumatic stress symptoms (PTS) are associated with increased risk of obstetric complications among pregnant survivors of trauma, abuse and interpersonal violence, but little is known about how PTS affects women's actual experiences of obstetric care. This study investigated the rate at which abuse history was detected by obstetricians, whether abuse survivors experienced more invasive exams than is typically indicated for routine obstetric care, and whether psychological distress was associated with abuse survivors' sense of self-efficacy when communicating their obstetric care needs...
December 14, 2016: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27939474/evaluation-of-fetal-hypermethylated-rassf1a-in-pre-eclampsia-and-its-relationship-with-placental-protein-13-pregnancy-associated-plasma-protein-a-and-urine-protein
#13
Seema Saraswathy, Kavita Sahai, Tribhuvan Pal Yadav, Devendra Arora, Suman Lata Mendiratta, Samar Husain Naqvi, Shilpie Biswas, Manu Krishnan, Kurian Mathew Abraham
OBJECTIVES: Cell free fetal DNA (cffDNA) and its hypermethylated RASSF1A gene signify a recent advancement in non-invasive prenatal diagnosis of feto-placental anomalies like pre-eclampsia. The study uses hypermethylated RASSF1A gene to quantify cffDNA and to assess its relationship with placental and urine proteins in pre-eclampsia cases. DESIGN AND METHODS: DNA was isolated from plasma samples of clinically diagnosed cases of pre-eclampsia (n=103) and normal pregnancy (n=616) from 21weeks of gestation...
October 2016: Pregnancy Hypertension
https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#14
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
#15
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/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#16
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/27889980/-the-importance-of-free-nucleic-acids-in-the-non-invasive-diagnostics
#17
Bálint Nagy, Zoltán Csanádi, Róbert Póka
There is a great interest to determine the physiological role of "free" nucleic acids, and to use them in the clinical diagnostics. These could be DNA, mRNA, microRNA and long non-coding RNA molecules, they are in the body fluids, like serum, tear, saliva, etc. Their exact role in the normal and pathological physiological processes is still in the focus of the research, while their use in the diagnostics is becoming more and more important. The use of "free" DNA in the non-invasive prenatal diagnosis is the first clinical application of the new generation sequencers, these methods are able to reach 99...
November 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#18
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
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#19
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/27862072/views-of-american-ob-gyns-on-the-ethics-of-prenatal-whole-genome-sequencing
#20
Michelle J Bayefsky, Amina White, Paul Wakim, Sara Chandros Hull, David Wasserman, Stephanie Chen, Benjamin E Berkman
OBJECTIVE: Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use. METHODS: A national survey was administered to 2500 members of American Congress of Obstetricians and Gynecologists...
December 2016: Prenatal Diagnosis
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