Genetic counseling: New approaches in prenatal diagnosis

Submitted: Monday 26th of July 2010 05:33:20 PM
Submitted by: egf
Language: English
Educational levels: qc1, qc2, qc3

Topics

Abstract

This resource contains materials from advanced courses of genetic counseling. It is especially focused on new approaches in prenatal diagnosis.

Resources

Presentation of a new method for non-invasive prenatal diagnosis of beta thalassaemia using APEX (Arrayed Primer Extension) technology
Fetal diagnosis became available since 1974 (1). Since then different sampling methods and analytical diagnostic methods were used in prenatal diagnosis. The fetal samples included cord blood, amniocytes, chorionic villi samples (CVS), blastomeres and recently fetal cells and free fetal DNA in the ...
After 15 years of research finally the possibility of obtaining a prenatal diagnosis of some genetic conditions from fetal material in the maternal circulation has become a clinical reality. Already more than 50 years ago pathologists had observed what they believed to be trophoblast cells in the pe ...
A presentaion about methods of prenatal diagnosis in the field of thalassaemia. This covers areas such as diagnosis using CVS, non-invasive methods of diagnosis, preimplanation genetic diagnosis and the use of microarrays for detection of mutations.
Fetal diagnosis became available since 1974 (1). Since then different sampling methods and analytical diagnostic methods were used in prenatal diagnosis. The fetal samples included cord blood, amniocytes, chorionic villi samples (CVS), blastomeres and recently fetal cells and free fetal DNA in the ...
a lecture about Prenatal diagnosis and array-cgh by O. Zuffardi from 2008

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Keywords

abnormal, adoption, affected, affected sib-pair, agarose gel, allele, alpha, amniocentesis, amniotic fluid, Analysis of the entire coding region: Sequence analysis, aneuploidy, annealing, antigen, Array genomic hybridization, artificial insemination by donor, autoimmune disease, autosomal, autosomal dominant, autosomal recessive, bacterial artificial chromosome, balanced translocation, band, base, base pair, beta, biosynthesis, biotechnology, blastomere, carrier, carrier screening, cell, cell culture, chorion, chorionic villus sampling, chromosome, chromosome abnormality, clone, codon, cohort, compound heterozygote, congenital, cordocentesis, critical region, cystic fibrosis transmembrane conductance regulator, cytogenetics, de novo, deletion, denaturing gradient gel electrophoresis, deoxyribonucleic acid, dna polymerase, dominant, duplication, dysplasia, electrophoresis, embryo, exon, false-negative, false-positive, fetus, fibroblast, fluorescent activated cell sorting, fluorescent in situ hybridization, foreign dna, frequency, gel electrophoresis, gene, genetic counselling, genetics, genome, genomic dna, genotype, genotyping, growth factor, haemoglobinopathy, haplotype analysis, heredity, heterozygote, heterozygous, homozygous, hydrocephalus, implantation, in vitro fertilisation, incomplete penetrance, informative, inherited, internal control, intra-cytoplasmic sperm injection, inv, isolated, karyotype, kilobase, linkage, locus, malformation, marker, maternal, metaphase, microarray, microdeletion, mode of inheritance, mutant, mutation, new mutation, nucleotide, nucleus, oligonucleotide, ova, penetrance, peptide, phenotype, placenta, point mutation, polar body, polymerase chain reaction, polymorphism, population, population screening, preimplantation genetic diagnosis, prenatal diagnosis, prenatal screening, primer, proband, probe, protein, rearrangement, recessive, reciprocal translocation, recombination, restriction enzyme, restriction fragment length polymorphism, risk assessment, Robertsonian translocation, screening, sensitivity, sequence, sex-determining region of the y, single nucleotide polymorphism, Southern blot, specificity, sperm, syndrome, target dna, telomere, terminator, trait, transition, translocation, trisomy, trisomy rescue, ultrasound, uniparental disomy, uterus, variant, y-chromosome, zygote

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