A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization
Journal
Journal of the Formosan Medical Association
Journal Volume
112
Journal Issue
9
Pages
537-544
Date Issued
2013
Author(s)
Abstract
Background/Purpose: Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility. Preimplantation genetic diagnosis (PGD) with blastomere biopsy and fluorescent in-situ hybridization (FISH) has been used to select normal/balanced embryos for transfer. However, FISH is inherent with some technical difficulties such as cell fixation and signal reading. Here we introduce a strategy of PGD using blastocyst biopsy and array comparative genomic hybridization (aCGH) for reproductive problems of patients with chromosomal translocation. Methods: Twelve patients diagnosed as having chromosomal translocation who underwent PGD cycles were included in this single-center observational study. Blastocyst biopsy was performed and biopsied blastocysts were cryopreserved individually. Testing was performed with aCGH, and the euploid embryos were transferred in the following thawing cycles. Results: The overall diagnostic efficiency was 90.2% (55/61) and the euploidy rate was 32.7% (18/55). Ten cycles of thawed embryo transfer (ET) were carried out, resulting in three live births and another three ongoing pregnancies with an ongoing pregnancy rate of 60%/transfer cycle. The prenatal diagnosis with chorionic villi sampling confirmed the results of PGD/aCGH in all six pregnant women. No miscarriage happened in our case series. Conclusion: Our study demonstrates an effective PGD strategy with promising outcomes. Blastocyst biopsy can retrieve more genetic material and may provide more reliable results, and aCGH offers not only detection of chromosomal translocation but also more comprehensive analysis of 24 chromosomes than traditional FISH. More cases are needed to verify our results and this strategy might be considered in general clinical practice. ? 2013.
SDGs
Other Subjects
adult; article; biopsy; blastocyst; blastocyst biopsy; chorion villus sampling; chromosome translocation; clinical article; comparative genomic hybridization; cryopreservation; diagnostic accuracy; diagnostic procedure; disease carrier; embryo; embryo transfer; female; fertilization in vitro; genetic screening; human; human tissue; live birth; male; metaphase; observational study; oligospermia; pregnancy; pregnancy rate; preimplantation genetic diagnosis; prenatal diagnosis; spontaneous abortion; thawing; array comparative genomic hybridization (aCGH); blastocyst biopsy; chromosomal translocation; infertility; preimplantation genetic diagnosis (PGD); Adult; Biopsy; Blastocyst; Comparative Genomic Hybridization; Feasibility Studies; Female; Heterozygote Detection; Humans; Male; Middle Aged; Pregnancy; Preimplantation Diagnosis; Translocation, Genetic
Type
journal article