IVF first: Baby born with embryo selection from DNA screening

Posted: July 9, 2013 at 7:45 pm

An in vitro fertilization (IVF) milestone has been announced by British researchers. For the first time, a baby was born using a new embryo screening technique combs through genetic data looking for risk for diseases and other abnormalities. The researchers say the technique, known as "next generation sequencing" will revolutionize embryo selection for families turning to IVF.

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"In the past few years, results from randomized clinical trials have suggested that most IVF patients would benefit from embryo chromosome screening, with some studies reporting a 50 percent boost in pregnancy rates. However, the costs of these genetic tests are relatively high, putting them beyond the reach of many patients," lead researcher Dr. Dagan Wells, a scientist at the NIHR Biomedical Research Centre at the University of Oxford in the U.K., said in a statement. "Next generation sequencing is a way which could make chromosome testing more widely available to a greater number of patients, improving access by cutting the costs."

Wells presented the case study of the first birth Monday at the European Society of Human Reproduction and Embryology in London.

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Next generation DNA-sequencing technology is used in other areas of medicine, such as in research of differences between normal cells and cancer cells, according to the Columbia Genome Center in New York City. For the process, DNA is broken into small fragments which are turned into strings of genetic code which are then sequenced in hundreds of millions parallel reactions.

This testing can also reveal information on the chances for inheriting genetic disorders, chromosome abnormalities and mitochondrial disease, mutations within a cell's nucleus that could lead to conditions including heart disease, motor disorders, diabetes, respiratory problems, seizures, and vision and hearing problems.

Wells said since the technology is already revolutionizing diagnostic medicine, if it's applied to embryo selection for IVF, it can provide "an unprecedented insight into the biology of embryos."

That's important, because only about 30 percent of embryos currently selected for transfer in IVF actually implant in the uterus. The reason for this high failure rate is unknown, according to the researchers, but they suspect hidden genetic mutations and abnormalities may be at play.

To ensure the new technique's accuracy, the researchers sequenced cells from 45 embryos that had previously been shown to be abnormal by a different testing technique. In a blind comparison of the two techniques, high accuracy was established.

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IVF first: Baby born with embryo selection from DNA screening

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