- Email: [email protected]
IMAGING HOW THE PREIMPLANTATION EMBRYO FORMS IN REAL TIME
e5
RBMO VOLUME 39 ISSUE s1 2019
Abstracts of PGDIS Geneva 2019 SPEAKER’S ABSTRACTS PLENARY LECTURES IMAGING HOW THE PREIMPLANTATION EMBRYO FORMS IN REAL TIME
Nicolas Plachta Institute of Molecular and Cell Biology, ASTAR, Singapore Email: [email protected]
Preimplantation development has typically been studied using fixed specimens. To reveal the dynamics that form the embryo, we established advanced imaging technologies to visualize single-cell dynamics and molecular events in real time within the mouse embryo. With this approach, we discovered how transcription factors bind to DNA in single cells of the embryo, to regulate the first cell fate decisions during embryonic development. We also unveiled new forms of actin and microtubule cytoskeletal organization, which control how cells become polarized during compaction and how they interact with each other to establish the first forms of tissue architecture, the pluripotent and trophectoderm lineages, and the blastocyst cavity. Together, our findings uncover dynamic mechanisms controlling how the mammalian embryo forms. Keywords: Preimplantation embryo; single cell dynamics; molecular events in real time
doi: 10.1016/j.rbmo.2019.04.021
IMPACT OF EXPANDED CARRIER SCREENING (ECS) ON UPTAKE OF PREIMPLANTATION GENETIC
TESTING FOR MONOGENIC DISORDERS (PGT-M)
represents the world's largest series in one center.
JL Simpson1,2, S Rechitsky1,2, A Kuliev1,2
A total of 643 (54.6%) PGT-M cases were performed through ECS referral during the years 20162018, as part of our overall PGT-M practice of 1188 cases, including referrals through traditional approach during the same period of time. To evaluate the impact of ECS on the PGT-M uptake, we analyzed the dynamics of increase of atrisk couples presenting for PGT-M through ECS overall, as well as separately for each genetic condition tested, compared to the baseline referrals through the traditional approach.
1 Reproductive 2 Florida
Genetic Innovations, Chicago, IL International University, Miami, FL
One of important problems in the health care application of technological developments in genomics is the availability of prospective identification of those at need for these technologies. The development and implementation of prospective carrier screening programs in the last few years is expected to increase the uptake of PGT-M. But most of couples at genetic risk are unaware of their genetic profiles to request PGT, which has been improved with the upgrade of traditional ethnicitybased screening to the expanded carrier screening (ECS). Recent advances in genomic technologies allow for multiplexed platforms with ability to screen for thousands of mutations and variants at a reasonable cost. The present ECS panels differ greatly in scope and include over thousand conditions and variants of variable penetrance, which are commercially available, offering the possibility of a more comprehensive and efficient risk evaluation. However, although the potential ECS to increase the number of couples presenting for PGT-M is obvious, no data are available to evaluate their actual impact. So this report evaluates the impact of ECS on the uptake of PGT-M, based on our ongoing PGT-M experience, which
The analysis showed an increase of ECS based referrals to PGT-M from 35.1% (133 of 322 cases) in 2016 to 53.8% (210 of 392 total) in 2017, and 63.3% (300 of 474) in 2018. Among the most frequently referred conditions were cystic fibrosis (CFTR) (131 of 182, 72%), the uptake of which increased from 50% in 2016 to 82.7% in 2018; Deafness (GLB2) (65 of 81, 80.2%) with the uptake growing from 31.2% in 2015 to 86.4% in 2018; Fragile X (FMR1) (102 of 128, 80%), the uptake growing from 73% in 2016 to 84% in 2018; Thalassemia and sickle cell disease (HBB) (58 of 99, 58.6%), increasing from 45.8% in 2016 to 60.9% in 2018. So, the overall number of prospective PGT-M cases for the last three years more than doubled after ECS-based referral, with a similar dynamics for each condition tested (up to 80% increase of referrals through ECS).
RBMO VOLUME 39 ISSUE s1 2019
Abstracts of PGDIS Geneva 2019 SPEAKER’S ABSTRACTS PLENARY LECTURES IMAGING HOW THE PREIMPLANTATION EMBRYO FORMS IN REAL TIME
Nicolas Plachta Institute of Molecular and Cell Biology, ASTAR, Singapore Email: [email protected]
Preimplantation development has typically been studied using fixed specimens. To reveal the dynamics that form the embryo, we established advanced imaging technologies to visualize single-cell dynamics and molecular events in real time within the mouse embryo. With this approach, we discovered how transcription factors bind to DNA in single cells of the embryo, to regulate the first cell fate decisions during embryonic development. We also unveiled new forms of actin and microtubule cytoskeletal organization, which control how cells become polarized during compaction and how they interact with each other to establish the first forms of tissue architecture, the pluripotent and trophectoderm lineages, and the blastocyst cavity. Together, our findings uncover dynamic mechanisms controlling how the mammalian embryo forms. Keywords: Preimplantation embryo; single cell dynamics; molecular events in real time
doi: 10.1016/j.rbmo.2019.04.021
IMPACT OF EXPANDED CARRIER SCREENING (ECS) ON UPTAKE OF PREIMPLANTATION GENETIC
TESTING FOR MONOGENIC DISORDERS (PGT-M)
represents the world's largest series in one center.
JL Simpson1,2, S Rechitsky1,2, A Kuliev1,2
A total of 643 (54.6%) PGT-M cases were performed through ECS referral during the years 20162018, as part of our overall PGT-M practice of 1188 cases, including referrals through traditional approach during the same period of time. To evaluate the impact of ECS on the PGT-M uptake, we analyzed the dynamics of increase of atrisk couples presenting for PGT-M through ECS overall, as well as separately for each genetic condition tested, compared to the baseline referrals through the traditional approach.
1 Reproductive 2 Florida
Genetic Innovations, Chicago, IL International University, Miami, FL
One of important problems in the health care application of technological developments in genomics is the availability of prospective identification of those at need for these technologies. The development and implementation of prospective carrier screening programs in the last few years is expected to increase the uptake of PGT-M. But most of couples at genetic risk are unaware of their genetic profiles to request PGT, which has been improved with the upgrade of traditional ethnicitybased screening to the expanded carrier screening (ECS). Recent advances in genomic technologies allow for multiplexed platforms with ability to screen for thousands of mutations and variants at a reasonable cost. The present ECS panels differ greatly in scope and include over thousand conditions and variants of variable penetrance, which are commercially available, offering the possibility of a more comprehensive and efficient risk evaluation. However, although the potential ECS to increase the number of couples presenting for PGT-M is obvious, no data are available to evaluate their actual impact. So this report evaluates the impact of ECS on the uptake of PGT-M, based on our ongoing PGT-M experience, which
The analysis showed an increase of ECS based referrals to PGT-M from 35.1% (133 of 322 cases) in 2016 to 53.8% (210 of 392 total) in 2017, and 63.3% (300 of 474) in 2018. Among the most frequently referred conditions were cystic fibrosis (CFTR) (131 of 182, 72%), the uptake of which increased from 50% in 2016 to 82.7% in 2018; Deafness (GLB2) (65 of 81, 80.2%) with the uptake growing from 31.2% in 2015 to 86.4% in 2018; Fragile X (FMR1) (102 of 128, 80%), the uptake growing from 73% in 2016 to 84% in 2018; Thalassemia and sickle cell disease (HBB) (58 of 99, 58.6%), increasing from 45.8% in 2016 to 60.9% in 2018. So, the overall number of prospective PGT-M cases for the last three years more than doubled after ECS-based referral, with a similar dynamics for each condition tested (up to 80% increase of referrals through ECS).