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

Abstract

Published data on the relationship between pregnancy outcomes of preimplantation genetic diagnosis (PGD) in translocation carriers have implicated inconclusive results. To identify potentially eligible reports, an electronic search was conducted in several databases, including PubMed, Scopus, Web of Knowledge, and Cochrane. Pooled odd ratios (ORs) and 95% confidence intervals (Cis) were estimated based on a random-effect model to evaluate the strength of association between PGD and successful pregnancy outcome in translocation carriers. A total of six cohort studies were included in the current study. The meta-analysis of these studies revealed that the PGD method was associated with an increased successful pregnancy outcome of translocation carriers (OR = 8.58; 95%CI: 1.40-52.76). In subgroup analysis, there was no significant association according to the chromosomal translocation carrier origin and the type of translocated chromosomes, as well as country. In developed countries, the pregnancy outcome of PGD was significantly improved in translocation carriers (OR = 21.79; 95%CI: 1.93-245.52). The current meta-analysis demonstrated that the PGD method is associated with successful pregnancy outcome in both types of reciprocal and Robertsonian translocation carriers, especially in developed countries.

Keywords

pregnancy outcome / preimplantation genetic diagnosis / meta-analysis / translocation / recurrent miscarriage

References

[1] Scriven PN. Preimplantation genetic diagnosis for an insertional translocation. Hum Reprod 2005; 20(06): 1746

[2] Hirshfeld-Cytron J, Sugiura-Ogasawara M, Stephenson MD. Management of recurrent pregnancy loss associated with a parental carrier of a reciprocal translocation: a systematic review. Semin Reprod Med 2011; 29(06): 470-481

[3] Kato K, Aoyama N, Kawasaki N, et al. Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss. J Hum Genet 2016; 61(08): 687-692

[4] Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb) 2001; 4(03): 168-171

[5] Yan L, Wei Y, Huang J, et al. Advances in preimplantation genetic diagnosis/screening. Sci China Life Sci 2014; 57(07): 665-671

[6] Sugiura-Ogasawara M, Suzumori K. Can preimplantation genetic diagnosis improve success rates in recurrent aborters with translocations?. Hum Reprod 2005; 20(12): 3267-3270

[7] Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998; 18(13): 1437-1449

[8] Lee E, Illingworth P, Wilton L, Chambers GM. The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review. Hum Reprod 2015; 30(02): 473-483

[9] Munné S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics 2012; 13(06): 463-470

[10] Baltaci V, Satiroğlu H, Unsal E, et al. Preimplantation genetic diagnosis in two couples with balanced reciprocal translocations. Eur J Obstet Gynecol Reprod Biol 2007; 134(01): 126-127

[11] Chang LJ, Chen SU, Tsai YY, et al. An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening. Clin Exp Reprod Med 2011; 38(03): 126-134

[12] Pundir J, Magdalani L, El-Toukhy T. Outcome of preimplantation genetic diagnosis using FISH analysis for recurrent miscarriage in low-risk reciprocal translocation carriers. Eur J Obstet Gynecol Reprod Biol 2016; 203: 214-219

[13] Idowu D, Merrion K, Wemmer N, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril 2015; 103(04): 1037-1042

[14] Franssen MT, Musters AM, van der Veen F, et al. Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum Reprod Update 2011; 17(04): 467-475

[15] Kyu Lim C, Hyun Jun J, Mi Min D, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 2004; 24(07): 556-561

[16] Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73(06): 1209-1218

[17] Ikuma S, Sato T, Sugiura-Ogasawara M, Nagayoshi M, Tanaka A, Takeda S. Preimplantation genetic diagnosis and natural conception: a comparison of live birth rates in patients with recurrent pregnancy loss associated with translocation. PLoS One 2015; 10(06): e0129958

[18] Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet 2012; 20(04): 376-380

[19] Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ 2003; 327(7414): 557-560

[20] DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986; 7(03): 177-188

[21] Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munné 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(06): 869-874

[22] Fischer J, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril 2010; 94(01): 283-289

[23] Verlinsky Y, Tur-Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 2005; 11(02): 219-225

[24] Findikli N, Kahraman S, Kumtepe Y, et al. Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases. Reprod Biomed Online 2003; 7(05): 563-571

[25] Conn CM, Cozzi J, Harper JC, Winston RM, Delhanty JD. Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 1999; 36(01): 45-50

[26] Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998; 102(01): 117-123

[27] Musters AM, Repping S, Korevaar JC, et al. Pregnancy outcome after preimplantation genetic screening or natural conception in couples with unexplained recurrent miscarriage: a systematic review of the best available evidence. Fertil Steril2011; 95 (06) 2153-2157 , 2157.e1-2157.e3

RIGHTS & PERMISSIONS

2020 Global Medical Genetics