Abstract

PurposeThe aim of this study is to investigate the minimum number of blastocysts for biopsy to increase the likelihood of obtaining at least one normal/balanced embryo in preimplantation genetic diagnosis (PGD) for translocation carriers.MethodsThis blinded retrospective study included 55 PGD cycles for Robertsonian translocation (RT) and 181 cycles for reciprocal translocation (rcp) to indicate when only one of the couples carried a translocation. Single-nucleotide polymorphism microarray after trophectoderm biopsy was performed.ResultsReliable results were obtained for 355/379 (93.7 %) biopsied blastocysts in RT group and 986/1053 (93.6 %) in rcp group. Mean numbers of biopsied embryos per patient, normal/balanced embryos per patient, and mean normal/balanced embryo rate per patient were 7.4, 3.1, and 40.7 % in RT group and 8.0, 2.1, and 27.3 %, respectively, in rcp group. In a regression model, three factors significantly affected the number of genetically transferrable embryos: number of biopsied embryos (P = 0.001), basal FSH level (P = 0.040), and maternal age (P = 0.027). ROC analysis with a cutoff of 1.5 was calculated for the number of biopsied embryos required to obtain at least one normal/balanced embryo for RT carriers. For rcp carriers, the cutoff was 3.5. The clinical pregnancy rate per embryo transfer was 44.2 and 42.6 % in RT and rcp groups (P = 0.836).ConclusionsThe minimum numbers of blastocysts to obtain at least one normal/balanced embryo for RT and rcp were 2 and 4 under the conditions of female age < 37 years with a basal FSH level < 11.4 IU/L.

Highlights

  • Translocation is one of the most common structural rearrangements of chromosomes, with an estimated 0.4 and 0.19 % prevalence in prenatal samples and newborns [1]

  • Three factors significantly affected the number of genetically transferrable embryos: number of biopsied embryos (P = 0.001), basal follicle-stimulating hormone (FSH) level (P = 0.040), and maternal age (P = 0.027)

  • We identified three significant factors that affected the number of genetically transferrable embryos in the adjusted model: number of biopsied embryos, basal FSH level, and maternal age

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Summary

Introduction

Translocation is one of the most common structural rearrangements of chromosomes, with an estimated 0.4 and 0.19 % prevalence in prenatal samples and newborns [1]. Robertsonian translocation (RT) and reciprocal translocation (rcp) usually result in no obvious phenotypic abnormalities when balanced. Both types of translocation carriers have a high rate of producing a chromosomally unbalanced gamete, which results in a high risk for miscarriage. The alternate gametes merely account for 1/9 [3]. The risk of miscarriage is estimated at 20–33 % in couples who carry RT and 47–53 % in couples who carry rcp [4]

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