Preimplantation Genetic Testing: Its Evolution, Where Are We Today?

Overview

Journal J Hum Reprod Sci

Date 2019 Feb 22

PMID 30787513

Citations 21

Authors

Firuza Rajesh Parikh

Arundhati Sitaram Athalye

Nandkishor Jagannath Naik

Dattatray Jayaram Naik

Rupesh Ramesh Sanap

Prochi Fali Madon

Affiliations

Soon will be listed here.

Abstract

Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos. This technology has become an integral part of Assisted Reproductive Technology (ART) procedures. Initial experiments with animals as early as 1890 and those in the mid and later part of the last century paved the forward path of ART and PGT. This review article covers the evolution of PGT and is a pointer toward current and fast-evolving technology, allowing scientists and doctors to better comprehend human reproduction, and ensure healthy pregnancy outcomes.

Citing Articles

Application of Additive Manufacturing in Assisted Reproductive Techniques: What Is the Evidence? A Clinical and Technical Systematic Review of the Literature.

Kontogeorgi A, Boutas I, Tsangkalova G, Messaropoulos P, Koufopoulos N, Schwab R Medicina (Kaunas). 2024; 60(11).

PMID: 39597074 PMC: 11596948. DOI: 10.3390/medicina60111889.

In vitro fertilization as an option for couples with genetic disorders.

Christianti F, Legiran L Clin Exp Reprod Med. 2024; 52(1):1-7.

PMID: 38853127 PMC: 11900667. DOI: 10.5653/cerm.2023.06667.

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review.

Gudapati S, Chaudhari K, Shrivastava D, Yelne S Cureus. 2024; 16(3):e57357.

PMID: 38694414 PMC: 11061269. DOI: 10.7759/cureus.57357.

Does embryo biopsy, independent of vitrification, impact perinatal outcomes? An analysis of perinatal outcomes following preimplantation genetic testing biopsy in fresh and frozen embryo transfer cycles.

Van Heertum K, DeVilbiss E, Goldfarb J, Mumford S, Weinerman R F S Rep. 2024; 5(1):47-54.

PMID: 38524204 PMC: 10958688. DOI: 10.1016/j.xfre.2024.01.005.

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.

Lan Y, Zhou H, He S, Shu J, Liang L, Wei H Front Endocrinol (Lausanne). 2024; 14:1176063.

PMID: 38523870 PMC: 10957767. DOI: 10.3389/fendo.2023.1176063.

References

Voullaire L, Wilton L, Slater H, Williamson R . Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn. 1999; 19(9):846-51. View

Voullaire L, Slater H, Williamson R, Wilton L . Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet. 2000; 106(2):210-7. DOI: 10.1007/s004390051030. View

Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A . Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001; 285(24):3130-3. DOI: 10.1001/jama.285.24.3130. View

Wilton L, Williamson R, McBain J, Edgar D, Voullaire L . Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med. 2002; 345(21):1537-41. DOI: 10.1056/NEJMoa011052. View

Parikh F, Madon P, Athalye A, Naik N, Gada S, Ganla K . Preimplantation genetic diagnosis of chromosomal abnormalities by multicolour fluorescence in situ hybridisation. J Indian Med Assoc. 2002; 99(8):441-4. View

Palermo G, Joris H, Devroey P, van Steirteghem A . Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992; 340(8810):17-8. DOI: 10.1016/0140-6736(92)92425-f. View

Hiramoto Y . Microinjection of the live spermatozoa into sea urchin eggs. Exp Cell Res. 1962; 27:416-26. DOI: 10.1016/0014-4827(62)90006-x. View

Cohen J . Assisted hatching of human embryos. J In Vitro Fert Embryo Transf. 1991; 8(4):179-90. DOI: 10.1007/BF01130802. View

Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar J, Verhoeve H . In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007; 357(1):9-17. DOI: 10.1056/NEJMoa067744. View

10.

Wells D, Alfarawati S, Fragouli E . Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod. 2008; 14(12):703-10. PMC: 2639447. DOI: 10.1093/molehr/gan062. View

11.

Handyside A, Harton G, Mariani B, Thornhill A, Affara N, Shaw M . Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2009; 47(10):651-8. DOI: 10.1136/jmg.2009.069971. View

12.

Li C, Jiang L, Chen W, Li K, Sheng H, Ni Y . CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans. Hum Reprod. 2009; 25(2):317-27. DOI: 10.1093/humrep/dep406. View

13.

Gutierrez-Mateo C, Colls P, Sanchez-Garcia J, Escudero T, Prates R, Ketterson K . Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2010; 95(3):953-8. DOI: 10.1016/j.fertnstert.2010.09.010. View

14.

Alfarawati S, Fragouli E, Colls P, Wells D . First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod. 2011; 26(6):1560-74. DOI: 10.1093/humrep/der068. View

15.

Forman E, Tao X, Ferry K, Taylor D, Treff N, Scott Jr R . Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod. 2012; 27(4):1217-22. PMC: 3303493. DOI: 10.1093/humrep/des020. View

16.

Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom C . Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990; 5(7):826-9. DOI: 10.1093/oxfordjournals.humrep.a137192. View

17.

Handyside A, Kontogianni E, Hardy K, Winston R . Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990; 344(6268):768-70. DOI: 10.1038/344768a0. View

18.

Treff N, Fedick A, Tao X, Devkota B, Taylor D, Scott Jr R . Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013; 99(5):1377-1384.e6. DOI: 10.1016/j.fertnstert.2012.12.018. View

19.

Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C . Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod. 2013; 88(3):69. DOI: 10.1095/biolreprod.112.106211. View

20.

Palini S, Galluzzi L, De Stefani S, Bianchi M, Wells D, Magnani M . Genomic DNA in human blastocoele fluid. Reprod Biomed Online. 2013; 26(6):603-10. DOI: 10.1016/j.rbmo.2013.02.012. View