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Cell free fetal dna

Qing Mao, Robert Chin, Weiwei Xie, Yuqing Deng, Wenwei Zhang, Huixin Xu, Rebecca Yu Zhang, Quan Shi, Erin E Peters, Natali Gulbahce, Zhenyu Li, Fang Chen, Radoje Drmanac, Brock A Peters
BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. METHODS: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform...
March 15, 2018: Clinical Chemistry
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Fredrik Dahl, Olle Ericsson, Olof Karlberg, Filip Karlsson, Mathias Howell, Fredrik Persson, Fredrik Roos, Johan Stenberg, Tarja Ahola, Ida Alftrén, Björn Andersson, Emelie Barkenäs, Birgit Brandner, Jenny Dahlberg, Sara Elfman, Magnus Eriksson, Per-Ola Forsgren, Niels Francois, Anna Gousseva, Faizan Hakamali, Åsa Janfalk-Carlsson, Henrik Johansson, Johanna Lundgren, Atefeh Mohsenchian, Linus Olausson, Simon Olofsson, Atif Qureshi, Björn Skarpås, Anna Sävneby, Eva Åström, Ove Öhman, Magnus Westgren, Helena Kopp-Kallner, Aino Fianu-Jonasson, Argyro Syngelaki, Kypros Nicolaides
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing...
March 14, 2018: Scientific Reports
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
Jean-Marc Costa, Alexandra Letourneau, Romain Favre, Laurent Bidat, Joelle Belaisch-Allart, Jean-Marie Jouannic, Edwin Quarello, Marie-Victoire Senat, Bernard Broussin, Vassilis Tsatsaris, Adèle Demain, Pascale Kleinfinger, Laurence Lohmann, Hélène Agostini, Jean Bouyer, Alexandra Benachi
PurposeCell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP).MethodsA prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Barbora Konečná, Lucia Lauková, Barbora Vlková
Cell-free self-DNA or RNA may induce an immune response by activating specific sensing receptors. During pregnancy, placental nucleic acids present in the maternal circulation further activate these receptors due to the presence of unmethylated CpG islands. A higher concentration of cell-free fetal DNA is associated with pregnancy complications and a higher risk for fetal rejection. Cell-free fetal DNA originates from placental trophoblasts. It appears in different forms: free, bound to histones in nucleosomes, in neutrophil extracellular traps and in extracellular vesicles...
February 26, 2018: Scandinavian Journal of Immunology
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko
INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further demonstrate the performance of a revised version of the test in a larger set of pregnancy plasma samples...
2018: PloS One
Sami P Makaroun, Katherine P Himes
Objective  The retroviral genes encoding Syncytin-1 ( SYN1 ) and Syncytin-2 ( SYN2 ) are epigenetically regulated, uniquely expressed in the placenta and critical to placental function. We sought to determine if placental expression and methylation patterns of SYN1 and SYN2 from pregnancies complicated by fetal growth restriction (FGR) differed from physiologic small for gestational age (SGA) and appropriate for gestational age (AGA) controls. Study Design  Placental biopsies were obtained from AGA, SGA and FGR neonates delivered at >36 weeks gestation...
January 2018: American Journal of Perinatology Reports
Timothy J Lee, Daniel L Rolnik, Melody A Menezes, Andrew C McLennan, Fabricio da Silva Costa
STUDY QUESTION: Are fetal fraction, test failure rate and positive predictive value (PPV) of cell-free fetal DNA (cffDNA) testing different in singleton IVF conceptions compared to spontaneous conceptions? SUMMARY ANSWER: Fetal fraction is significantly lower; test failure rate is higher and PPV of cffDNA testing is lower in singleton pregnancies conceived by IVF than those conceived spontaneously. WHAT IS ALREADY KNOWN: cffDNA testing, which analyses circulating cffDNA in maternal blood, has very high accuracy for detection of trisomy 21 in the general obstetric population...
February 15, 2018: Human Reproduction
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
Tamar Goldwaser, Susan Klugman
Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management...
February 2018: Fertility and Sterility
Thomas C Winter, Nancy C Rose
OBJECTIVE: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening...
February 15, 2018: AJR. American Journal of Roentgenology
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
Monica A Stoops, G Douglas Winget, Christopher J DeChant, Ray L Ball, Terri L Roth
Genetic sexing of animals with long gestation time benefits the management of captive populations. Here, X and Y chromosome-specific primers, based on equine gene sequencing data, were developed and tested on captive rhinoceroses (10 males, 20 females) representing four species (Diceros bicornis, Certaotherium simum simum, Rhinoceros unicornis, and Dicerorhinus sumatrensis). The Y chromosome-specific primer set targeted SRY (Sex-determining region Y), and amplified a 177-bp product following PCR of DNA extracted from males, but not females, of all species...
February 13, 2018: Molecular Reproduction and Development
Jessica Scholl, Stephen Chasen
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30...
January 2018: Surgery Journal
Kristin D Gerson, Barbara M O'Brien
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies...
March 2018: Obstetrics and Gynecology Clinics of North America
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
PURPOSE: Recently, fetal placenta-specific epigenetic regions (FSERs) have been identified for quantification of cell-free fetal DNA (cff-DNA) for non-invasive prenatal testing (NIPT). The aim of this study was to evaluate the efficiencies of a column-based kit and magnetic bead-based kit for quantification of methylated FSERs from maternal plasma. METHODS: Maternal plasma was extracted from normal pregnant women within the gestational age of 10~13 weeks (n = 24)...
February 8, 2018: Journal of Assisted Reproduction and Genetics
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