OBJECTIVE: To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos. DESIGN: Blinded. SETTING: Academic center for reproductive medicine. PATIENT(S): Six couples at risk of transmitting single-gene disorders to their offspring. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Embryonic genotype consistency of NGS with two independent conventional methods of PGD. RESULT(S): NGS provided 100% equivalent PGD diagnoses of compound point mutations and small deletions and insertions compared with both reference laboratory- and internally developed quantitative polymerase chain reaction (qPCR)-based analyses. Furthermore, NGS single-gene disorder screening could be performed in parallel with qPCR-based comprehensive chromosome screening. CONCLUSION(S): NGS can provide blastocyst PGD results with a high level of consistency with established methodologies. This study and its design could serve as a model for further development of this important and emerging technology.
OBJECTIVE: To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos. DESIGN: Blinded. SETTING: Academic center for reproductive medicine. PATIENT(S): Six couples at risk of transmitting single-gene disorders to their offspring. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Embryonic genotype consistency of NGS with two independent conventional methods of PGD. RESULT(S): NGS provided 100% equivalent PGD diagnoses of compound point mutations and small deletions and insertions compared with both reference laboratory- and internally developed quantitative polymerase chain reaction (qPCR)-based analyses. Furthermore, NGS single-gene disorder screening could be performed in parallel with qPCR-based comprehensive chromosome screening. CONCLUSION(S): NGS can provide blastocyst PGD results with a high level of consistency with established methodologies. This study and its design could serve as a model for further development of this important and emerging technology.
Authors: Antonio Capalbo; Valeria Romanelli; Danilo Cimadomo; Laura Girardi; Marta Stoppa; Lisa Dovere; Domenico Dell'Edera; Filippo Maria Ubaldi; Laura Rienzi Journal: J Assist Reprod Genet Date: 2016-07-16 Impact factor: 3.412
Authors: Liying Yan; Lei Huang; Liya Xu; Jin Huang; Fei Ma; Xiaohui Zhu; Yaqiong Tang; Mingshan Liu; Ying Lian; Ping Liu; Rong Li; Sijia Lu; Fuchou Tang; Jie Qiao; X Sunney Xie Journal: Proc Natl Acad Sci U S A Date: 2015-12-28 Impact factor: 11.205