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Cell free fetal dna

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https://www.readbyqxmd.com/read/28934815/-the-fetal-profile-more-than-just-nt
#1
Markus Hoopmann, Karl Oliver Kagan
The midsagittal view of the fetal profile is essential in first trimester screening at 11 + 0 to 13 + 6 weeks of gestation. None of the standard sections in prenatal medicine is as well defined and undergoes such a strong quality assurance program. These requirements were recently challenged by the introduction of cell-free DNA screening. The fetal profile view was previously only needed for the appropriate measurement of the fetal nuchal translucency thickness. In recent years, it became evident that there are many more anomalies or markers for fetal defects that can be seen in this section such as spina bifida, facial clefts or retrognathia...
September 21, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28924318/pre-eclampsia-molecular-events-to-biomarkers
#2
REVIEW
Kavita Sahai, Seema Saraswathy, Tribhuvan Pal Yadav, Devendra Arora, Manu Krishnan
Pre-eclampsia is a hypertensive disorder in pregnancy, which accounts for 10-15% of the maternal and perinatal mortality worldwide. Abnormal placental development and tissue hypoxia are its main etiologic factors. The present diagnostic methods of blood pressure monitoring and renal function evaluation are insufficient in the early detection of pre-eclampsia. Since molecular events portent well ahead of the disease onset, biomarker research for the early diagnosis of pre-eclampsia has recently generated ambitious clinical targets...
April 2017: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/28921852/genome-wide-cell-free-fetal-dna-screening-spots-variations-standard-screening-doesn-t-diagnostic-testing-data-needed-to-validate-results-and-prove-accuracy
#3
(no author information available yet)
No abstract text is available yet for this article.
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884630/fetal-and-placental-dna-stimulation-of-tlr9-a-mechanism-possibly-contributing-to-the-pro-inflammatory-events-during-parturition
#4
Ilona Telefus Goldfarb, Sharareh Adeli, Tucker Berk, Mark Phillippe
INTRODUCTION: While there is evidence for a relationship between cell-free fetal DNA (cffDNA) and parturition, questions remain regarding whether cffDNA could trigger a pro-inflammatory response on the pathway to parturition. We hypothesized that placental and/or fetal DNA stimulates toll-like receptor 9 (TLR9) leading to secretion of pro-inflammatory cytokines by macrophage cells. METHODS: Four in vitro DNA stimulation studies were performed using RAW 264.7 mouse peritoneal macrophage cells incubated in media containing the following DNA particles: an oligodeoxynucleotide (ODN2395), intact genomic DNA (from mouse placentas, fetuses and adult liver), mouse DNA complexed with DOTAP (a cationic liposome forming compound), and telomere-depleted mouse DNA...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28881030/the-association-between-anticoagulation-therapy-maternal-characteristics-and-a-failed-cfdna-test-due-to-a-low-fetal-fraction
#5
Whitney Burns, Nathanael Koelper, Andrea Barberio, Mary DeAgostino-Kelly, Michael Mennuti, Mary D Sammel, Lorraine Dugoff
OBJECTIVES: The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD: Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2016. cfDNA screening was performed using methylation techniques until October 2013; thereafter, samples were run with massively parallel sequencing...
September 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28858636/damage-associated-molecular-pattern-markers-hmgb1-and-cell-free-fetal-telomere-fragments-in-oxidative-stressed-amnion-epithelial-cell-derived-exosomes
#6
Samantha Sheller-Miller, Rheanna Urrabaz-Garza, George Saade, Ramkumar Menon
Term labor in humans is associated with increased oxidative stress (OS) -induced senescence and damages to amnion epithelial cells (AECs). Senescent fetal cells release alarmin high-mobility group box 1 (HMGB1) and cell-free fetal telomere fragments (cffTF) which can be carried by exosomes to other uterine tissues to produce parturition-associated inflammatory changes. This study characterized AEC-derived exosomes under normal and OS conditions and their packaging of HMGB1 and cffTF. Primary AECs were treated with either standard media or oxidative stress-induced media (exposure to cigarette smoke extract for 48h)...
August 24, 2017: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/28855395/rare-autosomal-trisomies-revealed-by-maternal-plasma-dna-sequencing-suggest-increased-risk-of-feto-placental-disease
#7
Mark D Pertile, Meredith Halks-Miller, Nicola Flowers, Catalin Barbacioru, Sarah L Kinnings, Darcy Vavrek, William K Seltzer, Diana W Bianchi
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromosomes 21, 18, 13, X, and Y; sequencing results from other chromosomes may be masked. We hypothesized that by systematically analyzing WGS data from all chromosomes, we could identify rare autosomal trisomies (RATs) to improve understanding of feto-placental biology...
August 30, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28844486/sensitive-monogenic-noninvasive-prenatal-diagnosis-by-targeted-haplotyping
#8
Carlo Vermeulen, Geert Geeven, Elzo de Wit, Marjon J A M Verstegen, Rumo P M Jansen, Melissa van Kranenburg, Ewart de Bruijn, Sara L Pulit, Evelien Kruisselbrink, Zahra Shahsavari, Davood Omrani, Fatemeh Zeinali, Hossein Najmabadi, Theodora Katsila, Christina Vrettou, George P Patrinos, Joanne Traeger-Synodinos, Erik Splinter, Jeffrey M Beekman, Sima Kheradmand Kia, Gerard J Te Meerman, Hans Kristian Ploos van Amstel, Wouter de Laat
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28837243/clinical-accuracy-of-abnormal-cell-free-fetal-dna-cfdna-results-for-the-sex-chromosomes
#9
Emily W Scibetta, Stephanie G Valderramos, Rashmi R Rao, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SC). Study Design This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice, from March 2013 to July 2015. CfDNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. RESULTS: Of fifty abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex-discordant on US...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833712/cell-free-fetal-dna-analysis-in-maternal-plasma-as-a-screening-test-for-trisomy-21-18-and-13-in-twin-pregnancies
#10
Grégoire Le Conte, Alexandra Letourneau, Jacques Jani, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Alexandra Benachi
OBJECTIVES: To evaluate the utility of noninvasive prenatal testing using cell-free circulating fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies in twin pregnancies. METHODS: CfDNA testing was offered to 492 patients with twin pregnancies without ultrasound anomalies as a first-line screening test or after serum screening in clinical practice. Data were collected prospectively and a retrospective analysis was performed. CfDNA analysis was performed by massively parallel sequencing...
August 18, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28828340/cell-free-fetal-nucleic-acid-identifier-markers-in-maternal-circulation
#11
REVIEW
Mahboubeh Ramezanzadeh, Sharifeh Khosravi, Rasoul Salehi
From the discovery of cell-free fetal (cff)-DNA in 1997 so far, many studies have been performed on various aspects of cff-nucleic acid. It is undoubted that currently, invasive prenatal diagnosis progresses to the noninvasive test. However, there are many problems. One of the most challenging issues in this field is differentiation and detection of the small amount of cff-nucleic acid in maternal plasma. Many markers and methods have been used for this purpose. This review makes an attempt to review and compare the studies in the field...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28811682/cell-free-fetal-dna-marker-for-predicting-pregnancy-outcomes
#12
EDITORIAL
Subir Kumar Das, Mriganka Mouli Saha
No abstract text is available yet for this article.
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#13
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#14
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28781851/cell-free-dna-results-lead-to-unexpected-diagnosis
#15
Jessica Smith, Victoria Kean, Diana W Bianchi, Gerald Feldman, Nancie Petrucelli, Michael Simon, Bernard Gonik
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28763452/pathogen-reduction-through-additive-free-short-wave-uv-light-irradiation-retains-the-optimal-efficacy-of-human-platelet-lysate-for-the-expansion-of-human-bone-marrow-mesenchymal-stem-cells
#16
Sabrina Viau, Lucie Chabrand, Sandy Eap, Judith Lorant, Karl Rouger, Francis Goudaliez, Chryslain Sumian, Bruno Delorme
BACKGROUND: We recently developed and characterized a standardized and clinical grade human Platelet Lysate (hPL) that constitutes an advantageous substitute for fetal bovine serum (FBS) for human mesenchymal stem cell (hMSC) expansion required in cell therapy procedures, avoiding xenogenic risks (virological and immunological) and ethical issues. Because of the progressive use of pathogen-reduced (PR) labile blood components, and the requirement of ensuring the viral safety of raw materials for cell therapy products, we evaluated the impact of the novel procedure known as THERAFLEX UV-Platelets for pathogen reduction on hPL quality (growth factors content) and efficacy (as a medium supplement for hMSC expansion)...
2017: PloS One
https://www.readbyqxmd.com/read/28718198/targeted-antenatal-anti-d-prophylaxis-program-for-rhd-negative-pregnant-women-outcome-of-the-first-two-years-of-a-national-program-in-finland
#17
Katri Haimila, Kati Sulin, Malla Kuosmanen, Inna Sareneva, Anu Korhonen, Suvi Natunen, Jarno Tuimala, Susanna Sainio
INTRODUCTION: The aim of this study was to assess the accuracy of the non-invasive fetal RHD test at 24-26 weeks of gestation as part of the national antenatal screening program to target routine antenatal anti-D prophylaxis (RAADP) at 28-30 weeks at women carrying an RhD-positive fetus. MATERIAL AND METHODS: A prospective cohort study involving all maternity care centers and delivery hospitals in Finland between February 2014 and January 2016. Fetal RHD genotyping using cell-free fetal DNA in maternal plasma was performed with real-time polymerase chain reaction in a centralized setting...
October 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28702698/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-chromosomal-abnormalities
#18
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening...
July 12, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28663415/non-invasive-prenatal-testing-use-of-cell-free-fetal-dna-in-down-syndrome-screening
#19
EDITORIAL
Imran Rafi, Melissa Hill, Judith Hayward, Lyn S Chitty
No abstract text is available yet for this article.
July 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#20
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
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