Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos
2019
Introduction Reciprocal translocations (RecT) and
Robertsonian translocations(RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables
embryoselection with
balanced chromosomalploidy. However, it is normally unable to determine whether an
embryois a translocation carrier. We have reported a method named “Mapping Allele with Resolved Carrier Status” (
MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same
embryo( J. Xu et al. 2017 ). Here we introduce
MaReCsand update the clinical study results. Material & Methods From September, 2017 to now, we have performed
MaReCson 69 patients, among them 55 were RecT carriers and 14 were RobT carriers. Result Totally 176
embryosfrom patients were identified ploidy-balanced, of which
embryosfrom 41 patients were successfully identified as normal or balanced translocation. Other
embryos’ translocation status could not be identified because of lacking reference
embryosand these patients have accepted further identification in next cycles. And we have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Conclusions
MaReCsaccurately enables the selection of translocation-free
embryosfrom patients carrying
chromosomal translocations. It can work as an effective technology to help reduce the propagation of RecT/RobT in the human population.
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