- 作者：Francesco Fiorentino ; Georgia Kokkali ; Anil Biricik ; Dimitri Stavrou ; Bahar Ismailoglu ; Rosangela De Palma ; Lucia Arizzi ; Gary Harton ; Mariateresa Sessa ; Kostantinos Pantos
- 关键词：Preimplantation genetic diagnosis ; preimplantation genetic screening ; Robertsonian translocation ; reciprocal translocation ; short tandem repeats ; pregnancy outcome ; aneuploidy origin ; uniparental disomy ; blastocyst ; chromosomal abnormalities
- 刊名：Fertility and Sterility
- 出版年：2010
- 出版时间：November 2010
- 年：2010
- 卷：94
- 期：6
- 页码：2001-2011.e6
- 全文大小：446 K
Objective
To develop and assess a polymerase chain reaction (PCR)-based preimplantation genetic diagnosis (PGD) approach for detection of chromosomal imbalances in embryos.Design
A prospective study of embryos derived from chromosome translocation carriers that have undergone PGD using a novel molecular-based approach.
Setting
A reference molecular genetics laboratory specialized in the provision of transport PGD services and a private IVF clinic.
Patient(s)
Twenty-seven couples carrying 12 different reciprocal translocations and 2 Robertsonian translocations.
Intervention(s)
Preimplantation genetic diagnosis from chromosome translocation carriers on blastomeres biopsied from cleavage stage embryos.
Main Outcome Measure(s)
Embryo diagnosis rate, pregnancy rate (PR), implantation rate, take-home-baby rate.
Result(s)
Overall, 241/251 (96.0 % ) embryos were successfully diagnosed for chromosome rearrangements. Preimplantation genetic screening was included in the protocol of 12 couples, involving analysis of 90 embryos, 84 (93.3 % ) of which were successfully diagnosed and 53 (63.1 % ) showed aneuploidies. Embryos suitable for transfer were identified in 24 cycles. Eighteen couples achieved a clinical pregnancy (75.0 % PR/embryo transfer), with a total of 31 embryos implanted (59.6 % implantation rate). Ten patients (1 triplet, 1 twin, and 8 singleton pregnancies) have delivered 13 healthy babies, and the other patients (3 twins and 5 singletons) have currently ongoing pregnancies.
Conclusion(s)
The PCR-based PGD protocol for translocations has the potential to overcome several inherent limitations of fluorescence in situ hybridization-based tests, providing potential improvements in terms of test performance, automation, turnaround time, sensitivity, and reliability.