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Quantification of cell free fetal DNA

Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
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
Simeon Eche, Irene Mackraj, Jagidesa Moodley
OBJECTIVE: Quantification of circulating fetal and total cell-free DNA (cfDNA) and soluble human leucocyte antigen (HLAG) in gestational hypertension and pre-eclampsia. METHODS: Serum cfDNA were quantified in controls, pre-eclamptics, and gestational hypertensive patients using real-time qPCR. Soluble HLAG was measured by enzyme-linked immune-sorbent assay. RESULTS: Serum fetal and total cfDNA levels were higher in pre-eclampsia compared with the controls and gestational hypertensives (p < 0...
November 2017: Hypertension in Pregnancy
Angela N Barrett, Li Xiong, Tuan Z Tan, Henna V Advani, Rui Hua, Cecille Laureano-Asibal, Richie Soong, Arijit Biswas, Niranjan Nagarajan, Mahesh Choolani
OBJECTIVE: Cell-free DNA from maternal plasma can be used for non-invasive prenatal testing for aneuploidies and single gene disorders, and also has applications as a biomarker for monitoring high-risk pregnancies, such as those at risk of pre-eclampsia. On average, the fractional cell-free fetal DNA concentration in plasma is approximately 15%, but can vary from less than 4% to greater than 30%. Although quantification of cell-free fetal DNA is straightforward in the case of a male fetus, there is no universal fetal marker; in a female fetus measurement is more challenging...
2017: PloS One
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
April 2017: Clinical Chemistry
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
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...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
Fabiana Cro', Cristina Lapucci, Emilio Vicari, Ginevra Salsi, Nicola Rizzo, Antonio Farina
OBJECTIVE: The aim of this study was to present a new method for fetal Kell genotyping by means of the allelic discrimination of K1 and K2 in real-time polymerase chain reaction (PCR). METHODS: Real-time quantitative polymerase chain reaction incorporating an allele-specific primer was developed for detecting the K allele of KEL. RESULTS: By means of this method, the K1/K2 genotype was able to be determined in all blood samples analyzed. Results using cell-free fetal DNA (cffDNA) from two Kell-negative pregnant women confirmed the Kell-positive genotype of fetuses...
December 2016: American Journal of Reproductive Immunology: AJRI
Lucie Orhant, Sophie Rondeau, Aurélie Vasson, Olivia Anselem, François Goffinet, Laïla Allach El Khattabi, France Leturcq, Dominique Vidaud, Thierry Bienvenu, Vassilis Tsatsaris, Juliette Nectoux
The discovery of free fetal DNA in the maternal circulation has inaugurated the era of non-invasive prenatal diagnosis. The latter has the advantage of avoiding the use of conventional obstetric procedures, such as chorionic villus sampling or aspiration of amniotic fluid, thus limiting the risks of miscarriage they induce. However, as free fetal DNA accounts for about 10% of cell-free DNA in maternal plasma, the presence of ambient maternal DNA can make it difficult to detect fetal alleles of paternal origin...
June 1, 2016: Annales de Biologie Clinique
Seema Saraswathy, Kavita Sahai, Devendra Arora, Manu Krishnan, Suman Lata Mendiratta, Shilpie Biswas, Kurian Mathew Abraham
OBJECTIVE: To quantify cell free fetal DNA (cffDNA) with fetal specific epigenetic marker, hypermethylated RASSF1A, in maternal plasma of normal pregnant women from 20 weeks of gestation and to assess its relationship with maternal age, height, pre-pregnancy weight and body mass index (BMI). METHODS: Hundred normal pregnant women within the gestational age of 21-40 weeks were randomly selected and grouped into five (n = 20). Group 1: 21-24, Group 2: 25-28, Group 3: 29-32, Group 4: 33-36 and Group 5: 37-40 weeks...
April 2017: Journal of Maternal-fetal & Neonatal Medicine
Iveta Svobodová, Eva Pazourková, Aleš Hořínek, Michaela Novotná, Pavel Calda, Marie Korabečná
Detection and characterization of circulating cell-free fetal DNA (cffDNA) from maternal circulation requires an extremely sensitive and precise method due to very low cffDNA concentration. In our study, droplet digital PCR (ddPCR) was implemented for fetal RHD genotyping from maternal plasma to compare this new quantification alternative with real-time PCR (qPCR) as a golden standard for quantitative analysis of cffDNA. In the first stage of study, a DNA quantification standard was used. Clinical samples, including 10 non-pregnant and 35 pregnant women, were analyzed as a next step...
2015: PloS One
Renee Stokowski, Eric Wang, Karen White, Annette Batey, Bo Jacobsson, Herb Brar, Madhumitha Balanarasimha, Desiree Hollemon, Andrew Sparks, Kypros Nicolaides, Thomas J Musci
OBJECTIVE: To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA (cfDNA) analysis. METHODS: Targeted cfDNA analysis using DANSR™ and FORTE™ with microarray quantitation was used to evaluate the risk of trisomy 21, 18, and 13 in blinded samples from 799 singleton, twin, natural, and IVF pregnancies. Subjects either had fetal chromosome evaluation by karyotype, FISH, QF-PCR, or karyotype for newborns with suspected aneuploidy at birth...
December 2015: Prenatal Diagnosis
Hee Jin Park, Sung Shin Shim, Dong Hyun Cha
Although the precise pathophysiology of pre-eclampsia remains unknown, this condition continues to be a major cause of maternal and fetal mortality. Early prediction of pre-eclampsia would allow for timely initiation of preventive therapy. A combination of biophysical and biochemical markers are superior to other tests for early prediction of the development of pre-eclampsia. Apart from the use of parameters in first-trimester aneuploidy screening, cell-free fetal DNA quantification is emerging as a promising marker for prediction of pre-eclampsia...
August 4, 2015: International Journal of Molecular Sciences
Lubna Yasmin, Jun-Ichiro Takano, Yasushi Nagai, Junko Otsuki, Tadashi Sankai
Because of their developmental similarities to humans, nonhuman primates are often used as a model to study fetal development for potential clinical applications in humans. The detection of fetal DNA in maternal plasma or serum offers a source of fetal genetic material for prenatal diagnosis. However, no such data have been reported for cynomolgus monkeys (Macaca fascicularis), an important model in biomedical research. We have developed a specific, highly sensitive PCR system for detecting and quantifying male-specific fetal DNA in pregnant cynomolgus monkeys...
February 2015: Comparative Medicine
S Y Kim, H J Kim, S Y Park, D E Lee, K S Kim, S Y Park, M H Kim, D W Kwak, H M Ryu
INTRODUCTION: To investigate the association between pregnancies with small for gestational age (SGA) neonates and the concentration of cell-free fetal DNA or cell-free total DNA in maternal plasma during the first and second trimesters using tissue-specific epigenetic characteristics of the SERPINB5 gene. METHODS: A nested case-control study was conducted with maternal plasma collected at 11 to 26 gestational weeks from 51 women with SGA neonates and 102 controls...
February 2015: Placenta
Barbora Vlková, Ján Turňa, Peter Celec
Cell-free fetal DNA present in maternal circulation has revolutionized non-invasive prenatal diagnosis of genetic diseases. In preeclampsia, the quantity of fetal DNA in maternal plasma has been studied and found to be higher in comparison to healthy pregnant women. Whether the quantity of fetal DNA can be used as a reliable predictive biomarker of preeclampsia is currently uncertain. This is a systematic review on studies quantifying fetal DNA in preeclamptic pregnancies. Using a PubMed search 22 studies were identified...
February 2015: Hypertension in Pregnancy
Kara Juneau, Patrick E Bogard, Stephanie Huang, Morassa Mohseni, Eric T Wang, Paul Ryvkin, Christopher Kingsley, Craig A Struble, Arnold Oliphant, Jacob M Zahn
OBJECTIVE: To develop a microarray-based method for noninvasive prenatal testing (NIPT) and compare it with next-generation sequencing. METHODS: Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR products were subsequently divided between two DNA quantification methods: microarrays and next-generation sequencing...
2014: Fetal Diagnosis and Therapy
Irina Manokhina, Tanjot K Singh, Maria S Peñaherrera, Wendy P Robinson
The characterization of cell-free DNA (cfDNA) originating from placental trophoblast in maternal plasma provides a powerful tool for non-invasive diagnosis of fetal and obstetrical complications. Due to its placental origin, the specific epigenetic features of this DNA (commonly known as cell-free fetal DNA) can be utilized in creating universal 'fetal' markers in maternal plasma, thus overcoming the limitations of gender- or rhesus-specific ones. The goal of this study was to compare the performance of relevant approaches and assays evaluating the amount of cfDNA in maternal plasma throughout gestation (7...
2014: PloS One
S Traver, S Assou, E Scalici, D Haouzi, T Al-Edani, S Belloc, S Hamamah
BACKGROUND: Proper folliculogenesis is fundamental to obtain a competent oocyte that, once fertilized, can support the acquisition of embryo developmental competence and pregnancy. MicroRNAs (miRNAs) are crucial regulators of folliculogenesis, which are expressed in the cumulus-oocyte complex and in granulosa cells and some can also be found in the bloodstream. These circulating miRNAs are intensively studied and used as diagnostic/prognostic markers of many diseases, including gynecological and pregnancy disorders...
November 2014: Human Reproduction Update
Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo, Sue Forrest, Marieke Veenendaal, Marina Katerelos, Alison Skene, Frank L Ierino, David A Power, Howard R Slater
BACKGROUND: We describe a novel approach that harnesses the ubiquity of copy number deletion polymorphisms in human genomes to definitively detect and quantify chimeric DNA in clinical samples. Unlike other molecular approaches to chimerism analysis, the copy number deletion (CND) method targets genomic loci (>50 base pairs in length) that are wholly absent from wild-type (i.e., self) background DNA sequences in a sex-independent manner. METHODS: Bespoke quantitative PCR (qPCR) CND assays were developed and validated using a series of DNA standards and chimeric plasma DNA samples collected from 2 allogeneic kidney transplant recipients and 12 pregnant women...
August 2014: Clinical Chemistry
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