Article
Genetics & Heredity
Miroslav Hornak, Katerina Bezdekova, David Kubicek, Rostislav Navratil, Veronika Hola, Maria Balcova, Magdalena Bohmova, Katerina Weisova, Katerina Vesela
Summary: PGT-M allows early diagnosis of monogenic disorders, preventing their transmission in affected families. This study describes a PGT protocol using next-generation sequencing for mutation testing, haplotyping, and aneuploidy screening.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Reproductive Biology
Yilun Sui, Min Xiao, Jing Fu, Lu Li, Yining Xu, Caixia Lei, Xiaoxi Sun
Summary: Supplementation with growth hormone (GH) during ovarian stimulation in elderly women can significantly increase the chance of obtaining euploid blastocysts, especially in patients aged 38-40 years.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Obstetrics & Gynecology
Julia Kim, Xin Tao, Michael Cheng, Ayesha Steward, Vanessa Guo, Yiping Zhan, Richard T. Scott Jr, Chaim Jalas
Summary: This study aims to determine the frequency at which the results of a single trophectoderm biopsy tested by PGTseq reflect the biology of the rest of the embryo.
FERTILITY AND STERILITY
(2022)
Article
Genetics & Heredity
Xiao Hu, Wen-Bin He, Shuo-Ping Zhang, Ke-Li Luo, Fei Gong, Jing Dai, Yi Zhang, Zhen-Xing Wan, Wen Li, Shi-Min Yuan, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin, Juan Du
Summary: Ultra-deep sequencing confirmed mosaic variants in four women suspected of mosaicism, leading to successful NGS-based PGT-M and transplantation of embryos free of monogenic disorders, resulting in the birth of healthy infants. This work highlights the importance of NGS-based PGT approach for accurate PGT-M with mosaicism.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Obstetrics & Gynecology
Jing Tong, Yichao Niu, Anran Wan, Ting Zhang
Summary: The study found that maternal age does not affect the implantation potential of euploid blastocysts, while embryo-related factors play a crucial role in RIF patients. The use of NGS-based PGT-A biopsy can significantly improve the clinical outcomes of advanced age RIF patients, serving as a valuable supplement to current RIF management.
REPRODUCTIVE SCIENCES
(2021)
Article
Andrology
Papri Sarkar, Erika P. New, Rachel G. Sprague, Robert Stillman, Eric Widra, Samad Jahandideh, Kate Devine, Anthony N. Imudia
Summary: This study explored the role of PGT-A using NGS technique in contemporary IVF practice. The results showed that transferring euploid embryos tested via NGS PGT-A could improve the live birth rate per transfer in women aged 35 and above.
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
(2023)
Article
Genetics & Heredity
Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel
Summary: This study reported the successful implementation of an in-house NIPT screening service in Saudi Arabia, showing high accuracy and sensitivity to detect high-risk cases. This technique could potentially change the common screening practice for pregnant women in Saudi Arabia.
FRONTIERS IN GENETICS
(2021)
Article
Obstetrics & Gynecology
Songchang Chen, Xuyang Yin, Sijia Zhang, Jun Xia, Ping Liu, Pingyuan Xie, Huijuan Yan, Xinming Liang, Junyu Zhang, Yiyao Chen, Hongjun Fei, Lanlan Zhang, Yuting Hu, Hui Jiang, Ge Lin, Fang Chen, Chenming Xu
Summary: WGS offers a cost-effective and reliable approach for genome-wide haplotyping and PGT for monogenic disorders, aneuploidy, and structural rearrangements without the need for additional family members, showing 100% concordance with traditional PGT methods.
HUMAN REPRODUCTION
(2021)
Article
Biochemical Research Methods
Dongjia Chen, Xiaoting Shen, Yan Xu, Bing Cai, Chenhui Ding, Yiping Zhong, Yanwen Xu, Canquan Zhou
Summary: Neurofibroma type 1 (NFI) is a genetic disease associated with cancer and cognitive dysfunction, posing challenges to preimplantation genetic testing (PGT) due to its 50% de novo mutation rate and numerous mutation types of the NF1 gene. A couple underwent next-generation sequencing (NGS)-based PGT, with biopsied trophectoderm samples undergoing whole-genome amplification and NGS to detect NF1 mutations and SNP analysis. A successful outcome resulted in obtaining unaffected and euploid blastocysts for transfer in a frozen-thawed embryo transfer (FET) cycle.
Article
Genetics & Heredity
Hui Yang, Andrew Thomas DeWan, Mayur M. M. Desai, Sten H. H. Vermund
Summary: Preimplantation genetic testing for aneuploidy is widely used in IVF procedures worldwide, but there are concerns about its use in clinical decision-making. Challenges include the test being a screening rather than diagnostic tool, high rates of mosaicism in blastocysts, and lack of clinical validation before use in patients. Current professional policies relying on industry self-regulation are deemed insufficient, and more definitive guidelines and regulations are needed.
Article
Cell Biology
Hongfang Liu, Bin Mao, Xiaojuan Xu, Lin Liu, Xiaoling Ma, Xuehong Zhang
Summary: This study aimed to evaluate the effectiveness of NGS-based PGT in balanced translocation carriers. The results showed that NGS-PGT is effective in analyzing balanced translocation carriers, with clinical outcomes unaffected by the type of translocation, maternal age, and blastocyst morphology following embryo transfer.
CYTOGENETIC AND GENOME RESEARCH
(2021)
Article
Multidisciplinary Sciences
R. Sainte-Rose, C. Petit, L. Dijols, C. Frapsauce, F. Guerif
Summary: The study found that blastocyst development rate is significantly reduced in advanced maternal age patients, with blastocysts showing growth retardation on day 5. While cell organization is unaffected by age, blastocysts with 'good' morphology in AMA patients have decreased implantation probability compared to 'average' morphology blastocysts in younger women. Although extended embryo culture is not harmful for AMA patients, it cannot compensate for the reduced implantation and live birth rates associated with maternal age.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Emmanouella E. Chatzidaki, Sean Powell, Bart J. H. Dequeker, Johanna Gassler, Mariana C. C. Silva, Kikue Tachibana
Summary: The study shows that reducing ovulation can delay oocyte aging and decrease chromosomal abnormalities in eggs. Protecting Rec8 from loss can maintain chromosome cohesion and preserve 3D chromatin structure, leading to the production of euploid eggs.
Article
Obstetrics & Gynecology
Chenxi Li, Yujie Dang, Jing Li, Hongchang Li, Yueting Zhu, Yingying Qin
Summary: The study suggests that preimplantation genetic testing (PGT) is not necessary for women with X chromosome abnormalities (XCAs) in the absence of other indications. XCAs are common chromosomal aberrations in infertile women, with Turner Syndrome patients having low pregnancy rates and high chances of birth defects.
HUMAN REPRODUCTION
(2021)
Review
Endocrinology & Metabolism
Zhuo Liang, Qiuyue Wen, Jingjing Li, Dingyuan Zeng, Pinxiu Huang
Summary: This meta-analysis demonstrates that PGT-A in RPF patients is associated with improved clinical outcomes, including higher IR, CPR, OPR, and LBR values, and lower CMR compared to the IVF/ICSI group. These findings support the positive clinical application of PGT-A in RPF patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
