Results 41 to 50 of about 449,800 (228)

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos

F&S Reports, 2023
Objective: To survey genetic counselors (GCs) who have counseled about mosaic embryos regarding the challenges they faced in counseling this patient population and assess their need for more resources to support their practice.
Olivia M. Moran, M.Sc., Kayla Flamenbaum, M.S., Diane Myles Reid, M.S., Jeanna M. McCuaig, Ph.D., Riyana Babul-Hirji, M.Sc., David Chitayat, M.D., Maian Roifman, M.D.   +6 more
doaj   +1 more source

Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations

Journal of Medical Genetics, 2023
Background De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have an estimated recurrence rate of 1%.
N. Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Li Jin, He-feng Huang, Songchang Chen, Chen-min Xu   +7 more
semanticscholar   +1 more source

Prêt-à-Porter Procreation: Contemplating the Ban on Preimplantation Sex Selection

Potchefstroom Electronic Law Journal, 2019
Preimplantation genetic testing makes it possible to genetically test in vitro embryos for the presence of genetic disease. It also identifies the sex of the embryo.
Sheetal Soni
doaj   +1 more source

Optimizing non-invasive preimplantation genetic testing: investigating culture conditions, sample collection, and IVF treatment for improved non-invasive PGT-A results

Journal of Assisted Reproduction and Genetics
Purpose This study aimed to optimize the non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) in the laboratory by comparing two collection timing of the spent culture medium (SCM), two embryo rinsing protocols, and the use of ...
Judy F. C. Chow, Kevin K W Lam, H. H. Cheng, Shui Fan Lai, WilliamS.B. Yeung, E. H. Ng   +5 more
semanticscholar   +1 more source

Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing

BMC Genomics, 2023
Background Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects.
Qiuping Xia, Shenglan Li, Taoli Ding, Zhen Liu, Jiaqi Liu, Yanping Li, Huimin Zhu, Z. Yao   +7 more
semanticscholar   +1 more source

Associations between the artificial intelligence scoring system and live birth outcomes in preimplantation genetic testing for aneuploidy cycles

Reproductive Biology and Endocrinology
Several studies have demonstrated that iDAScore is more accurate in predicting pregnancy outcomes in cycles without preimplantation genetic testing for aneuploidy (PGT-A) compared to KIDScore and the Gardner criteria.
Chun-I Lee, Chun-Chia Huang, Tsung-Hsien Lee, Hsiu-Hui Chen, E. Cheng, Pin-Yao Lin, Tzu-Ning Yu, Chung-I Chen, Chien-Hong Chen, Maw-Sheng Lee   +9 more
semanticscholar   +1 more source

Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study

Journal of Translational Medicine, 2023
Background Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.
Shujuan Ma, J. Liao, Shuoping Zhang, Xiaoyi Yang, B. Hocher, Jing Tan, Yueqiu Tan, Liang Hu, Fei Gong, P. Xie, Ge Lin   +10 more
semanticscholar   +1 more source

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

European Journal of Human Genetics, 2023
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with extreme clinical variability, resulting in unpredictable manifestations in affected offspring ...
V. Vernimmen, A. Paulussen, J. Dreesen, R J T van Golde, M. Zamani Esteki, E. Coonen, M. L. van Buul-van Zwet, I. Homminga, A. Derijck, Lloyd Brandts, C. Stumpel, C. D. de Die-Smulders   +11 more
semanticscholar   +1 more source

Potential of preimplantation genomic selection using the blastomere separation technique in bovine in vitro fertilized embryos

The Journal of Reproduction and Development, 2021
Preimplantation genomic selection combined with an in vitro embryo production system is expected as a means of accelerating genetic improvement in cattle.
Takashi FUJII, Akira NAITO, Satoru MORIYASU, Soichi KAGEYAMA   +3 more
doaj   +1 more source

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

Nature Communications, 2023
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples.
A. Janssen, R. Koeck, R. Essers, P. Cao, W. van Dijk, M. Drüsedau, J. Meekels, B. Yaldiz, M. van de Vorst, B. de Koning, D. Hellebrekers, S. Stevens, Su Ming Sun, M. Heijligers, Sonja A de Munnik, Chris M.J. van Uum, J. Achten, L. Hamers, M. Naghdi, L. Vissers, R J T van Golde, G. de Wert, J. Dreesen, C. de Die-Smulders, E. Coonen, Han G. Brunner, A. van den Wijngaard, Aimee D C Paulussen, M. Zamani Esteki   +28 more
semanticscholar   +1 more source