An Update of Preimplantation Genetic Diagnosis in Gene Diseases, Chromosomal Translocation, and Aneuploidy Screening

Overview

Journal Clin Exp Reprod Med

Date 2012 Mar 3

PMID 22384431

Citations 8

Authors

Li-Jung Chang

Shee-Uan Chen

Yi-Yi Tsai

Chia-Cheng Hung

Mei-Ya Fang

Yi-Ning Su

Yu-Shih Yang

Affiliations

Soon will be listed here.

Abstract

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence in-situ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

Citing Articles

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology.

Lee S, Lee T, Song S, Kim D, Choi K, Lee J Clin Exp Reprod Med. 2021; 48(4):283-294.

PMID: 34875735 PMC: 8651766. DOI: 10.5653/cerm.2021.04476.

The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis.

Mahdavi M, Sharafi S, Daniali S, Riahi R, Kheirollahi M Glob Med Genet. 2020; 7(1):14-21.

PMID: 32879919 PMC: 7410090. DOI: 10.1055/s-0040-1712455.

Preimplantation Genetic Screening and The Success Rate of Fertilization: A Three-Years Study on Iranian Population.

Totonchi M, Babaabasi B, Najafi H, Rezazadeh Valojerdi M, Eftekhari-Yazdi P, Karimian L Cell J. 2020; 22(4):467-475.

PMID: 32347040 PMC: 7211278. DOI: 10.22074/cellj.2021.6784.

Clinical application of oligo array-CGH for detecting balanced translocations in preimplantation genetic diagnosis.

Zhou Z, Ma Y, Li Q, Zhang Y, Huang Y, Tu Z Int J Clin Exp Pathol. 2020; 10(7):7821-7835.

PMID: 31966630 PMC: 6965244.

Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.

Turki R, Assidi M, Banni H, Zahed H, Karim S, Schulten H BMC Med Genet. 2016; 17(Suppl 1):69.

PMID: 27766963 PMC: 5073987. DOI: 10.1186/s12881-016-0331-1.

References

Wu C, Lin S, Su Y, Fang M, Chen S, Hsu C . Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. Audiol Neurootol. 2010; 15(5):311-7. DOI: 10.1159/000284349. View

Chen S, Chen C, Yang Y . Ovarian hyperstimulation syndrome (OHSS): new strategies of prevention and treatment. J Formos Med Assoc. 2008; 107(7):509-12. DOI: 10.1016/s0929-6646(08)60162-x. View

Qubbaj W, Al-Swaid A, Al-Hassan S, Awartani K, Deek H, Coskun S . First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism. Reprod Biomed Online. 2010; 22(1):72-9. DOI: 10.1016/j.rbmo.2010.09.016. View

. Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online. 2008; 16(1):134-47. DOI: 10.1016/s1472-6483(10)60567-6. View

Chen C, Wu M, Chao K, Lien Y, Chen S, Yang Y . Update on management of ovarian hyperstimulation syndrome. Taiwan J Obstet Gynecol. 2011; 50(1):2-10. DOI: 10.1016/j.tjog.2011.01.014. View

Spits C, De Rycke M, Van Ranst N, Verpoest W, Lissens W, VAN Steirteghem A . Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn. 2007; 27(5):447-56. DOI: 10.1002/pd.1708. View

Zheng Y, Wang N, Li L, Jin F . Whole genome amplification in preimplantation genetic diagnosis. J Zhejiang Univ Sci B. 2011; 12(1):1-11. PMC: 3017410. DOI: 10.1631/jzus.B1000196. View

Liebermann J . Vitrification of human blastocysts: an update. Reprod Biomed Online. 2009; 19 Suppl 4:4328. View

Donoso P, Staessen C, Fauser B, Devroey P . Current value of preimplantation genetic aneuploidy screening in IVF. Hum Reprod Update. 2006; 13(1):15-25. DOI: 10.1093/humupd/dml043. View

10.

Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munne S . Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online. 2006; 13(6):869-74. DOI: 10.1016/s1472-6483(10)61037-1. View

11.

Rius M, Obradors A, Daina G, Ramos L, Pujol A, Martinez-Passarell O . Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization. Fertil Steril. 2011; 96(1):134-42. DOI: 10.1016/j.fertnstert.2011.04.052. View

12.

Wilton L . Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization. Hum Reprod Update. 2004; 11(1):33-41. DOI: 10.1093/humupd/dmh050. View

13.

Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie C . Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010; 20(4):470-6. DOI: 10.1016/j.rbmo.2010.01.006. View

14.

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

15.

Franssen M, Musters A, van der Veen F, Repping S, Leschot N, Bossuyt P . Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum Reprod Update. 2011; 17(4):467-75. DOI: 10.1093/humupd/dmr011. View

16.

Nekkebroeck J, Bonduelle M, Desmyttere S, Van Den Broeck W, Ponjaert-Kristoffersen I . Mental and psychomotor development of 2-year-old children born after preimplantation genetic diagnosis/screening. Hum Reprod. 2008; 23(7):1560-6. DOI: 10.1093/humrep/den033. View

17.

Liu Y, Lee K, Ng E, Yeung W, Ho P . Gene expression profiling of human peri-implantation endometria between natural and stimulated cycles. Fertil Steril. 2008; 90(6):2152-64. DOI: 10.1016/j.fertnstert.2007.10.020. View

18.

Fiorentino F, Kokkali G, Biricik A, Stavrou D, Ismailoglu B, De Palma R . Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril. 2010; 94(6):2001-11, 2011.e1-6. DOI: 10.1016/j.fertnstert.2009.12.063. View

19.

Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C . Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online. 2002; 5(2):148-55. DOI: 10.1016/s1472-6483(10)61617-3. View

20.

Lau E, Janson M, Roesler M, Avner E, Strawn E, Bick D . Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet. 2010; 27(7):397-407. PMC: 2922704. DOI: 10.1007/s10815-010-9432-5. View