A method for determining the number of chromosomes and detecting chromosomal abnormalities of an individual. Carried out by analysing a photograph of the chromosomes of a single cell cut out and arranged in pairs based on their size and banding pattern after chemical staining.
Non-invasive prenatal testing to detect chromosomal abnormalities in twin pregnancies is not as accurate as in singleton pregnancies...
Ring chromosome 20 syndrome is an ultra-rare difficult to treat epilepsy, often accompanied by intellectual disability and behaviour disorder...
The Progress Educational Trust's event 'Testing Times: How Should We Use Genomic Data in Assisted Reproduction' took place at Amnesty International in London on the 16 May 2019. The event aimed to give members of the audience an insight into current uses
The 100,000 Genomes Project aims to sequence 100,000 genomes by 2017. A proportion of these genomes will be from patients who have an undiagnosed rare disease. This project has the potential to make a dramatic impact on the numbers of people receiving a much-needed diagnosis for themselves or their child...
US biotech company Verinata Health has reported sequencing fetal DNA taken from pregnant women's blood to test for genetic abnormalities...
More sensitive prenatal testing of fetal DNA could improve the detection of genetic diseases, studies find...
An international team of researchers have found that both embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) show higher genetic abnormalities than other cells....
New research into diagnostic genetic tests for autism spectrum disorders (ASDs) has revealed the effectiveness of a new test that is currently not used in the first line of diagnosis. The findings were published online last week in the journal Paediatrics....
In BioNews 535, we published a commentary by Wendy Kramer in which she stated that 'using a donor with reciprocal translocations is potentially even more likely to produce sick children than donors with autosomal dominant disorders. The chances for a chromosomally abnormal child are thirty out of thirty-two (Scriven, 1998)'. However, this interpretation is incorrect and potentially misleading, the author of the paper has since informed us....
Writing in the 26 May 2009 edition of BioNews, the Donor Sibling Registry reported about the recent birth of a severely handicapped and profoundly retarded baby girl who had inherited an unbalanced translocation from New England Cryogenic Center sperm donor D-250. Now, the same problem has been disclosed as occurring at the London Women's Clinic. A donor was found to be a balanced translocation carrier only after his semen had been widely commercialised. A couple had to destroy 22 embryos c...
BioNews, published by the Progress Educational Trust (PET), provides news and comment on genetics, assisted conception, embryo/stem cell research and related areas.
