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First child born following embryo screening with new genome analysis technique
Date:7/7/2013

completed rapidly (around 16 hours), thus avoiding the need for embryo freezing while awaiting results
  • The test could greatly reduce the costs of embryo screening, which is currently an expensive add-on to IVF.

    The study described today was designed to test the accuracy and predictability of NGS in embryo selection. The validation was performed on multiple cells from cell-lines with known chromosome abnormalities, gene defects (cystic fibrosis) or mitochondrial DNA mutations.

    Additionally, cells from 45 embryos, previously shown to be abnormal with another testing technique, were reanalysed by NGS in a blinded fashion. After high accuracy had been demonstrated, the method was applied clinically, with cells sampled from seven five-day-old embryos (blastocysts) produced by two couples undergoing IVF. The mothers were 35 and 39 years of age and one couple had a history of miscarriage.

    NGS analysis in these two IVF patients identified three chromosomally healthy blastocysts in the first and two in the second; single embryo transfers based upon these results led to healthy pregnancies in both cases. The first pregnancy ended with the delivery of a healthy boy in June. Dr Wells, who led the international research team behind the study, said: "Many of the embryos produced during infertility treatments have no chance of becoming a baby because they carry lethal genetic abnormalities. Next generation sequencing improves our ability to detect these abnormalities and helps us identify the embryos with the best chances of producing a viable pregnancy. Potentially, this should lead to improved IVF success rates and a lower risk of miscarriage.

    "In the past few years, results from randomised clinical trials have suggested that most IVF patients would benefit from embryo chromosome screening, with some studies reporting a 50% boost in pregnancy rates. However, the costs of these genetic tests are relatively high, putting them beyond th
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  • Contact: Christine Bauquis
    christine@eshre.eu
    32-499-258-046
    European Society of Human Reproduction and Embryology
    Source:Eurekalert

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