Study points to a safer, improved exam for chromosomal defects in a fetus


Jan. 10, 2013 ? A noninvasive, sequencing-based proceed for detecting chromosomal abnormalities in a building fetus is safer and some-more ominous in some cases than normal methods, according to a investigate published Jan. 10 by Cell Press in The American Journal of Human Genetics. This method, that analyzes fetal DNA in a mother’s blood, could yield women with a cost-effective approach to find out possibly their unborn baby will have vital developmental problems but risking a miscarriage.

“Our investigate is a initial to uncover that roughly all a information that is accessible from an invasive procession is also accessible noninvasively from a elementary maternal blood draw,” says comparison investigate author Richard Rava of Verinata Health.

Metaphase karyotypes — cinema of chromosomes taken by a microscope — have traditionally been used to detect abnormalities compared with developmental delay, egghead disability, inborn defects, and autism. Recently, a process called a chromosome microarray, that uses molecular probes to detect gains or waste of DNA segments within chromosomes, has been shown to yield some-more minute information than a metaphase karyotype. But both of these approaches need invasive procedures that engage stealing hankie from a placenta or inserting a needle into a amniotic weal to collect fluid. As a result, they boost a risk of infection and could mistreat a fetus during pregnancy.

Massively together sequencing (MPS) of fetal DNA in a mother’s blood offers a safer choice for a showing of chromosomal abnormalities opposite a fetal genome. But it has not been famous possibly MPS is as accurate as chromosome microarrays. In a new study, Rava and his group found that MPS was able of detecting a accumulation of chromosomal abnormalities as accurately as chromosome microarrays.

“Such a noninvasive exam could have clinical application in a nearby future, quite for women who possibly have a medical contraindication or miss entrance to an invasive procedure,” Rava says. “This work suggests an sparkling destiny trail toward slight noninvasive showing of abnormalities in a whole fetal genome.”

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The above story is reprinted from materials supposing by Cell Press, around EurekAlert!, a use of AAAS.

Note: Materials might be edited for calm and length. For serve information, greatfully hit a source cited above.


Journal Reference:

  1. Anupama Srinivasan, Diana W. Bianchi, Hui Huang, Amy J. Sehnert, Richard P. Rava. Noninvasive Detection of Fetal Subchromosome Abnormalities around Deep Sequencing of Maternal Plasma. The American Journal of Human Genetics, 2013; DOI: 10.1016/j.ajhg.2012.12.006

Note: If no author is given, a source is cited instead.

Disclaimer: This essay is not dictated to yield medical advice, diagnosis or treatment. Views voiced here do not indispensably simulate those of ScienceDaily or the staff.

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