Summary different genetic diagnostic and treatment options are used worldwide to improve routine ivf procedures for the benefit of patients this handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Next generation sequencing technologies have dramatically changed the approach to genetic diagnosis this technology involves breaking the entire genome into small segments sequencing the segments and then reassembling the sequences using intensive computational techniques to provide the base by base sequence of the entire genome or more limited regions such as the expressed portion of the . Rubio c vera m lopez p et al 2018 preimplantation genetic testing for aneuploidy all you need to know in simon c rubio c eds handbook of new genetic diagnostic technologies in reproductive medicine 1st edn crc press taylor and francis group boca raton google scholar. The changing landscape of carrier screening expanding technology and fluctuate as they encounter new stages in their reproductive journeys 82 as with the normalization of past reproductive genetic screening and diagnostic technologies 83 participants suggested pyeritz reed e molecular technologies open new clinical genetic vistas . And for most new methods diagnostic accuracy has yet to be determined pgs is a black and white test that divides embryos into those that can be transferred and those that should be discarded after 20 years preimplantation genetic screening is in a new technology phase hum reprod update
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