Embryonic Aneuploidy: Overcoming Molecular Genetics Challenges Improves Outcomes and Changes Practice Patterns
Overview
Molecular Biology
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Since its inception, in vitro fertilization (IVF) has pursued molecular technology to improve patient outcomes, leading to enhanced methods of embryo selection. Comprehensive chromosomal screening (CCS) is a powerful tool that decreases maternal and neonatal morbidity due to multiple gestations by allowing the transfer of fewer embryos while maintaining success rates. To optimize this genetic test, physiological principles limiting the timing and type of cells to be removed had to be realized. Molecular barriers involved in genome amplification and ensuring the accuracy and validity of the CCS platform required a multistep approach to ensure that this technology was not used prematurely. Only after ensuring that the potential for harm was minimized and benefit maximized could clinicians use this technology to improve patient care.
Bulletti F, Sciorio R, Conforti A, De Luca R, Bulletti C, Palagiano A Front Endocrinol (Lausanne). 2025; 15:1429193.
PMID: 40028443 PMC: 11867936. DOI: 10.3389/fendo.2024.1429193.
Lal A, Kranyak A, Blalock J, Athavale D, Barre A, Doran A J Assist Reprod Genet. 2022; 39(7):1515-1522.
PMID: 35543804 PMC: 9365898. DOI: 10.1007/s10815-022-02510-3.
Control of LINE-1 Expression Maintains Genome Integrity in Germline and Early Embryo Development.
Kohlrausch F, Berteli T, Wang F, Navarro P, Keefe D Reprod Sci. 2021; 29(2):328-340.
PMID: 33481218 DOI: 10.1007/s43032-021-00461-1.
Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer.
Zhang L, Wei D, Zhu Y, Gao Y, Yan J, Chen Z J Assist Reprod Genet. 2018; 36(1):165-172.
PMID: 30246223 PMC: 6338591. DOI: 10.1007/s10815-018-1322-2.
Velazquez M, Smith C, Smyth N, Osmond C, Fleming T Hum Reprod. 2016; 31(9):1970-80.
PMID: 27402911 PMC: 4991661. DOI: 10.1093/humrep/dew177.