NIPD for trisomy 21 NIPD for trisomy 21 (A) Foetal cell-free DNA (cfDNA) from the foetal circulation crosses the placenta into the maternal circulation,

Slides:

Advertisements

Similar presentations

The Build-up of the Red Sequence at z

Advertisements

NON – INVASIVE PRENATAL TESTING

© Copyright 2009 by the American Association for Clinical Chemistry Maternal Plasma DNA Analysis Using Massively Parallel Sequencing-By- Ligation for Noninvasive.

Supplemental data 2. Breast cancer primary tumor, metastasis and xenograft Total copy number gain (green), loss (red) and unchanged (black) for primary.

Hypothesis Testing for the Mean:

Non-invasive Prenatal Testing

Comparison of WGA methods for genotyping fetal nucleated red blood cells for the application of non-invasive prenatal diagnosis Zhouwei Huang1, Angela.

Amniotic fluid Amniotic fluid is found around the developing fetus, inside a membraneous sac, called amnion.

David Hines Ryan Weidlich

Nat. Rev. Clin. Oncol. doi: /nrclinonc

بهداشت فردي.

Non Invasive Prenatal Testing for Aneuploidy (NIPT)

Aberrant TCRδ rearrangement underlies the T-cell lymphocytopenia and t(12;14) translocation associated with ATM deficiency by Wenxia Jiang, Brian J. Lee,

Charge recombination pathways in PSII

Identification of imprinted genes and imprinted DMRs

Chapter 7 DNA Fingerprinting

Chromosome territories.

Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy Hussein Mouawia, Ali Saker,

Genetic Counseling and Genetic Testing

Joe Leigh Simpson, M.D. Fertility and Sterility

Periodic table illustrating the elements essential for life

A novel counting algorithm to detect common fetal trisomies

Delocalized structures

Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I Brook Brouha, Christof Meischl, Eric Ostertag, Martin de Boer, Yue Zhang, Herman.

Solar spectrum and absorption profiles of chlorophyll and bacteriochlorophyll pigments Solar spectrum and absorption profiles of chlorophyll and bacteriochlorophyll.

Reaction co-ordinate for an uncatalysed compared with enzyme-catalysed reaction Reaction co-ordinate for an uncatalysed compared with enzyme-catalysed.

Circulating tumor DNA: Solid data from liquid biopsies

Capture of CK+ and CK− complex aneuploid CTCs in breast, ovarian, or colorectal cancer. Capture of CK+ and CK− complex aneuploid CTCs in breast, ovarian,

Keto–enol tautomerism

WZ4003, a specific NUAK1 and NUAK2 inhibitor (A) Chemical structure of the NUAK1/NUAK2 inhibitor WZ4003. WZ4003, a specific NUAK1 and NUAK2 inhibitor (A)

Reversible addition at a carbonyl group

mTORC1 signalling links cellular growth with autophagy

Linkage Genes that are physically located on the same chromosome are said to be “linked”. Linked genes are said to be “mapped” to the same chromosome.

Schematic representation of the autophagy pathway

A, high resolution MS/MS spectrum (lower panel) of 1435

Detection rate for EGFR mutations in cfDNA.

Volume 4, Issue 6, Pages (September 2013)

Figure 1. Plasma next-generation sequencing (NGS) assay workflow, comparison of variant allelic fraction with ... Figure 1. Plasma next-generation sequencing.

Beth Elliott, Christine Richardson, Maria Jasin Molecular Cell

NON – INVASIVE PRENATAL TESTING

Sex determination problems in forensic genetic analysis

Biochemical characterization of motif VI mutants—R592A and H594A

Figure 2 Peripheral blood lymphocyte subset counts during dimethyl fumarate treatment(A) Lymphocyte subsets were obtained at baseline (n = 21) and at month.

The histidine-rich loop regulates accessibility of the active site and RDEL motif in vivo. The histidine-rich loop regulates accessibility of the active.

Figure SCA10 in a Chinese Han family (A) Pedigree of the Chinese Han spinocerebellar ataxia type 10 (SCA10) family. SCA10 in a Chinese Han family (A) Pedigree.

The principles of genetic association

Comparative genomic expressive hybridisation detection and quantification. Comparative genomic expressive hybridisation detection and quantification. (A)

Schematic design of the SSM

QF-PCR QF-PCR Several microsatellite loci (here R, S and T) on the relevant chromosome(s) are analysed by PCR using an appropriate pair of flanking primers,

The MLPA assay and application to diagnosis of DGS

Schematic map of the X and Y chromosomes

Alteration calling accuracy and concordance with reference platforms.

Nucleotide sequences of the IS1016-bexAdeletion region of type b strain Hib and type a strains 1, 2, and 5. Nucleotide sequences of the IS1016-bexAdeletion.

Allele-specific PCR by positioning the variant at the 3′ end of one primer Allele-specific PCR by positioning the variant at the 3′ end of one primer (A)

Giemsa banding (G-banding) to form a karyogram

DNA methylation status is heritable but requires maintenance

SNP array demonstrates areas of loss and gain across the genome at high resolution SNP array demonstrates areas of loss and gain across the genome at high.

The electron transport chain

Chromatin status is influenced by DNA methylation and histone acetylation Chromatin status is influenced by DNA methylation and histone acetylation In.

The cell cycle and RB The cell cycle and RB The cell cycle is depicted, showing the phases (divided by chevrons): growth or gap 1 (G1), DNA synthesis (S),

RAS activation RAS activation (A) RAS is bound to GDP in the inactive state. Signal transduction can lead to the activation of RAS, via a GEF (GDP/GTP.

Methylation of cytosine and consequences of deamination of methyl-C

Principles of meiosis and non-disjunction

Fertilisation outcomes

Segregation of reciprocal translocations

CF symptoms depend on residual CFTR activity

Oncogenic mutations Oncogenic mutations Examples of oncogene activating mutations are depicted. (A) Gene amplification leading to increased expression.

Detection of BRCA reversion mutations in pretreatment cfDNA and tumor biopsy. Detection of BRCA reversion mutations in pretreatment cfDNA and tumor biopsy.

Genome wide association study for T2D-related loci

Fig. 1. Schematic description of whole-exome or targeted next-generation sequencing analyses. Schematic description of whole-exome or targeted next-generation.

Presentation transcript:

NIPD for trisomy 21 NIPD for trisomy 21 (A) Foetal cell-free DNA (cfDNA) from the foetal circulation crosses the placenta into the maternal circulation, which thus contains both maternal and foetal cfDNA. (B) cfDNA is collected from maternal blood samples. The maternal cfDNA tends to be longer fragments than foetal cfDNA so that separation is possible but not straightforward. In general, however, there is no separation stage. In cases where the foetus is affected by trisomy 21, there will be more foetal cfDNA fragments derived from chromosome 21 (coloured red and indicated by asterisks) in comparison with a case where the foetus is unaffected. (C) The total cfDNA is analysed by DNA sequencing using NGS, allowing a count of how many reads have been obtained from each chromosome. If there was an over-representation of chromosome 21 fragments in the cfDNA sample then there will be increased representation of NGS sequence reads that match chromosome 21 (asterisked). The analysis is often quantified by calculating ratios of (for example) chromosome 21 reads to chromosome 1 reads. If only foetal cfDNA was present the chr 21:chr 1ratio would be expected to be 1:1 from an unaffected foetus, and 1.5:1 from an affected foetus, but the additional presence of disomic maternal cfDNA in the sample means that the ratio will be lower. Maria Jackson et al. Essays Biochem. 2018;62:643-723 ©2018 by Portland Press Ltd