Literature DB >> 34218301

A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.

Yunni Cai1, Min Ding1, YuTing Zhang1, Yanxin Sun1, Fei Lin1, Zhenyu Diao1, Jianjun Zhou2.   

Abstract

PURPOSE: To investigate the clinical factors that could be used predict the number of transferable blastocysts in preimplantation genetic testing (PGT) cycles based on next-generation sequencing (NGS) and formed form a mathematical model to predict the chance likelihood of obtaining one transferable blastocyst, which is helpful for genetic counseling.
METHODS: This retrospective study enrolled couples undergoing PGT cycles for chromosomal structural rearrangement (PGT-SR, n = 363, 202 with reciprocal translocation carriers, 131 with Robertsonian translocation carriers, 30 with inversion carriers), monogenic diseases (PGT-M, n = 47), and for Aneuploidies (PGT-A, n = 132) from January 2015 to October 2018. Stepwise multiple linear regression analysis was used to identify the factors relevant for obtaining at least one transferable blastocyst. The factors that predict the number of biopsied blastocysts were further analyzed.
RESULTS: The transferable blastocyst rates were 29.94, 41.99, 49.09, 41.42, and 44.37% in the reciprocal translocation carrier, Robertsonian translocation carrier, inversion carrier, PGT-M, and PGT-A cycles, respectively. The number of transferable blastocysts in these cycles were 0.3004 × the number of biopsied blastocysts (NBB) - 0.0031, 0.4063 × NBB + 0.0460, 0.5762 × NBB - 0.3128, 0.3611 × NBB + 0.1910, and 0.4831 × NBB - 0.0970, respectively. Furthermore, the number of MII oocytes and female age were clinical predictors of NBB in reciprocal translocation and PGT-A couples, while the number of MII oocytes was the only clinical predictor in Robertsonian translocation carriers, inversion carriers, and PGT-M couples.
CONCLUSIONS: The number of biopsied blastocysts was the only clinical predictor of the ability to obtain a transferable blastocyst in PGT cycles; therefore, for clinical practice, theoretically the minimum numbers of biopsied blastocysts is 4 in reciprocal translocation carrier and 3 in couples undergoing PGT for other reasons. The number of MII oocytes and female age were clinical predictors of the number of biopsied blastocysts. With the mathematical models in our study as a reference, in clinical practice, clinicians will be able to conduct a more targeted genetic consultation for different kinds of PGT patients.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Monogenic diseases; Next-generation sequencing; Preimplantation genetic testing; Reciprocal translocation; Robertsonian translocation

Mesh:

Year:  2021        PMID: 34218301     DOI: 10.1007/s00404-021-06050-6

Source DB:  PubMed          Journal:  Arch Gynecol Obstet        ISSN: 0932-0067            Impact factor:   2.344


  31 in total

1.  Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect.

Authors:  Monica M Mikhaail-Philips; Evelyn Ko; Judy Chernos; Calvin Greene; Alfred Rademaker; Renée H Martin
Journal:  Am J Med Genet A       Date:  2004-06-01       Impact factor: 2.802

2.  Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.

Authors:  Kristien Hens; Maryse Bonduelle; Christine de Die-Smulders; Inge Liebaers
Journal:  Eur J Med Genet       Date:  2018-12-17       Impact factor: 2.708

3.  Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.

Authors:  Wenke Zhang; Ying Liu; Li Wang; Hui Wang; Minyue Ma; Mengnan Xu; Xiaofei Xu; ZhiYing Gao; Jinliang Duan; David S Cram; Yuanqing Yao
Journal:  J Assist Reprod Genet       Date:  2016-05-11       Impact factor: 3.412

Review 4.  Clinical applications of preimplantation genetic testing.

Authors:  Paul R Brezina; William H Kutteh
Journal:  BMJ       Date:  2015-02-19

5.  Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.

Authors:  Yanxin Xie; Yanwen Xu; Jing Wang; Benyu Miao; Yanhong Zeng; Chenhui Ding; Jun Gao; Canquan Zhou
Journal:  J Assist Reprod Genet       Date:  2017-09-18       Impact factor: 3.412

Review 6.  Preimplantation genetic diagnosis and screening: Current status and future challenges.

Authors:  Hsin-Fu Chen; Shee-Uan Chen; Gwo-Chin Ma; Sung-Tsang Hsieh; Horng-Der Tsai; Yu-Shih Yang; Ming Chen
Journal:  J Formos Med Assoc       Date:  2017-09-06       Impact factor: 3.282

7.  Validation of copy number variation sequencing for detecting chromosome imbalances in human preimplantation embryos.

Authors:  Li Wang; David S Cram; Jiandong Shen; Xiaohong Wang; Jianguang Zhang; Zhuo Song; Genming Xu; Na Li; Junmei Fan; Shufang Wang; Yaning Luo; Jun Wang; Li Yu; Jiayin Liu; Yuanqing Yao
Journal:  Biol Reprod       Date:  2014-06-25       Impact factor: 4.285

8.  Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

Authors:  Xiaokun Hu; Jing Wang; Yubin Li; Yizi Wang; Chenhui Ding; Yanhong Zeng; Yanwen Xu; Canquan Zhou
Journal:  PLoS One       Date:  2015-09-30       Impact factor: 3.240

Review 9.  The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis.

Authors:  Danilo Cimadomo; Antonio Capalbo; Filippo Maria Ubaldi; Catello Scarica; Antonio Palagiano; Rita Canipari; Laura Rienzi
Journal:  Biomed Res Int       Date:  2016-01-28       Impact factor: 3.411

Review 10.  Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Authors:  J C Harper; K Aittomäki; P Borry; M C Cornel; G de Wert; W Dondorp; J Geraedts; L Gianaroli; K Ketterson; I Liebaers; K Lundin; H Mertes; M Morris; G Pennings; K Sermon; C Spits; S Soini; A P A van Montfoort; A Veiga; J R Vermeesch; S Viville; M Macek
Journal:  Eur J Hum Genet       Date:  2017-12-04       Impact factor: 4.246

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  1 in total

Review 1.  A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach.

Authors:  Bogdan Doroftei; Ovidiu-Dumitru Ilie; Nicoleta Anton; Theodora Armeanu; Ciprian Ilea
Journal:  Diagnostics (Basel)       Date:  2022-08-07
  1 in total

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