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Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
Ka Lung Chong, Amir Samsudin, Tee Chau Keng, Tengku Ain Kamalden, Norlina Ramli
PURPOSE: To evaluate the effect of nocturnal intermittent peritoneal dialysis (NIPD) on intraocular pressure (IOP) and anterior segment optical coherence tomography (ASOCT) parameters. Systemic changes associated with NIPD were also analyzed. METHODS: Observational study. Nonglaucomatous patients on NIPD underwent systemic and ocular assessment including mean arterial pressure (MAP), body weight, serum osmolarity, visual acuity, IOP measurement, and ASOCT within 2 hours both before and after NIPD...
September 2, 2016: Journal of Glaucoma
Xia Zhou, Peiling Yap, Marcel Tanner, Robert Bergquist, Jürg Utzinger, Xiao-Nong Zhou
The peer-reviewed journal Infectious Diseases of Poverty provides a new platform to engage with, and disseminate in an open-access format, science outside traditional disciplinary boundaries. The current piece reviews a thematic series on surveillance-response systems for elimination of tropical diseases. Overall, 22 contributions covering a broad array of diseases are featured - i.e. clonorchiasis, dengue, hepatitis, human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS), H7N9 avian influenza, lymphatic filariasis, malaria, Middle East respiratory syndrome (MERS), rabies, schistosomiasis and tuberculosis (TB)...
2016: Infectious Diseases of Poverty
A Damian, F Maroun, P Allongue
We investigate by in situ scanning tunnelling microscopy (STM) the potential dependence of the electrochemical dealloying of NiPd monoatomic layers electrodeposited on Au(111). The dealloying process is achieved by Ni selective dissolution and was studied as a function of NiPd composition: for an alloy with a Ni content ≥70%, quasi-complete Ni dissolution is achieved at a potential of -0.9 VMSE whereas for a Ni content <70%, Ni dissolution at the same potential drastically slows down after the removal of small amounts of Ni...
August 7, 2016: Nanoscale
Talitha I Verhoef, Melissa Hill, Suzanne Drury, Sarah Mason, Lucy Jenkins, Stephen Morris, Lyn S Chitty
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. METHOD: Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders. RESULTS: For autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost £314 less than invasive testing...
July 2016: Prenatal Diagnosis
Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba
PURPOSE: To date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of the Droplet Digital PCR (ddPCR) technology for analysis of both paternally and maternally inherited fetal alleles. For the purpose, single nucleotide polymorphisms (SNPs) were studied with the only intention to mimic monogenic disorders. METHODS: NIPD SNP genotyping was performed by ddPCR in 55 maternal plasma samples...
2016: PloS One
Qingqing Wang, Lingling Zhang, Changshuai Shang, Zhiquan Zhang, Shaojun Dong
We demonstrate that nickel-palladium hollow nanoparticles (NiPd hNPs) exhibit triple-enzyme mimetic activity: oxidase-like activity, peroxidase-like activity and catalase-like activity. As peroxidase mimetics, the catalytic activity of NiPd hNPs was investigated in detail. On this basis, a simple glucose biosensor with a wide linear range and low detection limit was developed.
April 7, 2016: Chemical Communications: Chem Comm
Hui-hui ZHU, Chang-hai ZHOU, Ying-dan CHEN, Wei ZANG, Ning XIAO, Xiao-nong ZHOU
The National Survey on Current Status of Major Human Parasitic Diseases in China has been carried out since 2014 under the organization of the National Health and Family Planning Commission of the People's Republic of China. The National Institute of Parasitic Diseases, Chinese Center for Disease Control and Prevention (NIPD, China CDC) provided technical support and was responsible for quality control in this survey. This study used SWOT method to analyze the strengths, weaknesses, opportunities and threats that were encountered by he NIPD, China CDC during the completion of the survey...
October 2015: chinese Journal of Parasitology & Parasitic Diseases
Michael Parks, Samantha Court, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
OBJECTIVE: Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. METHOD: Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dystrophin gene on chromosome X. Sequencing data were analysed by relative haplotype dosage...
April 2016: Prenatal Diagnosis
I Pfeifer, A Benachi, A Saker, J P Bonnefont, H Mouawia, L Broncy, R Frydman, M L Brival, B Lacour, R Dachez, P Paterlini-Bréchot
OBJECTIVE: We aimed at developing a method to recover trophoblastic cells from the cervix through a completely non-invasive approach and obtaining a genetic proof of their fetal nature implying that they can be used for non-invasive prenatal diagnosis (NIPD). METHODS: We studied obstetrical samples from 21 pregnant women between 8 and 12 weeks of gestation scheduled for chorionic villus sampling or undergoing elective termination of pregnancy. A cytobrush was used to extract cells from the external parts of the cervix and transferred to 10 ml of preservative solution...
January 2016: Placenta
Emmanuel Debrand, Alexandra Lykoudi, Elizabeth Bradshaw, Stephanie K Allen
INTRODUCTION: Non-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother's bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5-1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in the cffDNA, it is possible to predict whether the fetus will be an unaffected carrier (absence) or whether further invasive testing is indicated (presence)...
2015: PloS One
David A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, Fouad Zahdeh, Tama Dinur, Gaya Chicco, Yair Herskovitz, Paul Renbaum, Deborah Elstein, Ephrat Levy-Lahad, Arndt Rolfs, Ari Zimran
BACKGROUND: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic...
October 1, 2015: Journal of Clinical Investigation
Xiao-jun Zhou, Bin Zheng, Feng-yun Yi, Yan-hong Xiong, Min-qi Zhang
The data of the National Natural Science Foundation (NSFC) projests obtained by the National Institute of Parasitic Diseases (NIPD), Chinese Center for Disease Control and Prevention (China CDC) during 2003-2013 were collected from internet-based science information system of NSFC, and NSFC search tool of Dingxiang Garden ( The number of funded projects, their subject classification and approved amount were analyzed, and compared with the other institutes of China CDC. Furthermore, the rationalization proposals were given in order to enhance the level of foundation management in the future...
April 2015: chinese Journal of Parasitology & Parasitic Diseases
Lotte Hatt, Mads M Aagaard, Jesper Graakjaer, Cathrine Bach, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Epigenetic markers for cell free fetal DNA in the maternal blood circulation are highly interesting in the field of non-invasive prenatal testing since such markers will offer a possibility to quantify the amount of fetal DNA derived from different chromosomes in a maternal blood sample. The aim of the present study was to define new fetal specific epigenetic markers present in placental DNA that can be utilized in non-invasive prenatal diagnosis. We have conducted a high-resolution methylation specific beadchip microarray study assessing more than 450...
2015: PloS One
Jade Bennett, Lyn Chitty, Celine Lewis
Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy...
February 2016: Journal of Genetic Counseling
Rintu Rebecca Jacob, Renu Saxena, Ishwar Chander Verma
OBJECTIVE: Diagnosis of fetal gender early in pregnancy is very useful as it would prevent invasive fetal sampling in almost half the cases at risk of inheriting X-linked disorders or those affecting sexual differentiation. Noninvasive prenatal diagnosis (NIPD) using circulating cell-free fetal (cff) DNA from maternal circulation has emerged as a useful alternative to existing methods for prenatal diagnosis of gender. NIPD eliminates the risk of miscarriage from invasive prenatal diagnosis and the necessity of possessing specialized obstetric skills for fetal tissue sampling...
September 2015: Genetic Testing and Molecular Biomarkers
Bedri Karakas, Wafa Qubbaj, Saad Al-Hassan, Serdar Coskun
The discovery of cell-free fetal DNA (cfDNA) circulating in the maternal blood has provided new opportunities for noninvasive prenatal diagnosis (NIPD). However, the extremely low levels of cfDNA within a high background of the maternal DNA in maternal circulation necessitate highly sensitive molecular techniques for its reliable use in NIPD. In this proof of principle study, we evaluated the earliest possible detection of cfDNA in the maternal plasma by a bead-based emulsion PCR technology known as BEAMing (beads, emulsion, amplification, magnetics)...
2015: PloS One
Jessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, Nienke Muntjewerff, Inge B Mathijssen, Egbert Bakker, Martine J van Belzen, Elles M J Boon
OBJECTIVE: With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). METHODS: Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was determined in total cell-free DNA from maternal plasma using a direct approach by PCR and subsequent fragment analysis. RESULTS: All fetal HD (n = 7) and intermediate (n = 3) CAG repeats could be detected in maternal plasma...
October 2015: Prenatal Diagnosis
Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley, Lucy A Jenkins
OBJECTIVE: Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. METHODS: Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia...
July 2015: Prenatal Diagnosis
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