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Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. (Sep 2016)

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Title:
Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization.
Journal:
PNAS 2016 113 (42) 11907-11912;
Author(s):
Xu J1, Fang R2, Chen L1, Chen D2, Xiao JP2, Yang W2, Wang H2, Song X2, Ma T3, Bo S3, Shi C3, Ren J3, Huang L4, Cai LY5, Yao B6, Xie XS7, Lu S8
Author(s) affiliation:
1Reproductive Medical Center of Nanjing Jinling Hospital and the Collaborative Innovation Platform for Reproductive Biology and Technology, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, China;
2Reproductive Medicine Center, Wuxi Maternity and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214002, China;
3Department of Clinical Research, Yikon Genomics Company, Ltd., Shanghai 201499, China;
4Biodynamic Optical Imaging Center (BIOPIC), School of Life Sciences, Peking University, Beijing 100871, China; Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115; Harvard Medical School, Boston, MA 02115; Beijing Advanced Innovation Center for Genomics, Peking University, Beijing 100871, China;
5Reproductive Medicine Center, Wuxi Maternity and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214002, China; This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it..
6Reproductive Medical Center of Nanjing Jinling Hospital and the Collaborative Innovation Platform for Reproductive Biology and Technology, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, China; This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it..
7Biodynamic Optical Imaging Center (BIOPIC), School of Life Sciences, Peking University, Beijing 100871, China; Beijing Advanced Innovation Center for Genomics, Peking University, Beijing 100871, China; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 01238 This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it..
8Department of Clinical Research, Yikon Genomics Company, Ltd., Shanghai 201499, China; This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it. This email address is being protected from spambots. You need JavaScript enabled to view it..
 

 

 

 

Abstract taken from PubMed

Abstract:
Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst. By using multiple annealing and looping-based amplification cycles (MALBAC) for whole-genome amplification (WGA), we performed next-generation sequencing (NGS) on the spent culture medium used to culture human blastocysts (n = 42) and obtained the ploidy information of all 24 chromosomes. We validated these results by comparing each with their corresponding whole donated embryo and obtained a high correlation for identification of chromosomal abnormalities (sensitivity, 0.882, and specificity, 0.840). With this validated NICS method, we performed chromosome screening on IVF embryos from seven couples with balanced translocation, azoospermia, or recurrent pregnancy loss. Six of them achieved successful clinical pregnancies, and five have already achieved healthy live births thus far. The NICS method avoids the need for embryo biopsy and therefore substantially increases the safety of its use. The method has the potential of much wider chromosome screening applicability in clinical IVF, due to its high accuracy and noninvasiveness.
Link to the paper on PubMed
 




 

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