Wednesday, June 10, 2015

Prenatal Research:Non-invasive prenatal fetal testing ♦ Novel genetic mutations may arise during early embryonic development ♦ Unique marker on mom's chromosomes in early embryo

Non-invasive prenatal fetal testing can detect early stage cancer in mothers Non-invasive prenatal testing (NIPT) for chromosomal fetal disorders is used increasingly to test for conditions such as Down's syndrome. NIPT examines DNA from the fetus in the mother's blood, and therefore does not carry the risk of miscarriage involved in invasive testing methods. Now, for the first time, researchers have found another advantage of NIPT; it can detect maternal cancers at an early stage, before symptoms appear.
First national study of non-invasive prenatal testing shows it works and is preferred by high-risk women Although non-invasive prenatal testing carries a much lower risk of miscarriage than do invasive tests, it is slightly less accurate, because it only analyses DNA from the outer layers of the placenta. In some cases a trisomy will be present in these outer layers, but not in the fetus. However, a large European study shows that high-risk women prefer NIPT
Novel genetic mutations may arise during early embryonic development rather than being acquired from the parents’ germline New, sophisticated gene sequencing techniques are leading to an increasing understanding of the causes of genetic disease, and can help parents with affected children make informed reproductive choices, researchers say. Until now, de novo genetic mutations, alterations in a gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child.
Researchers identify unique marker on mom's chromosomes in early embryo Researchers are visually capturing the first process of chromosome alignment and separation at the beginning of mouse development. The findings could lead to answers to questions concerning the mechanisms leading to birth defects and chromosome instability in cancer cells.

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