Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations

被引：43

作者：

Fiorentino, Francesco ^{[1
]}

Kokkali, Georgia ^{[2
]}

Biricik, Anil ^{[1
]}

Stavrou, Dimitri ^{[2
]}

Ismailoglu, Bahar ^{[1
]}

De Palma, Rosangela ^{[1
]}

Arizzi, Lucia ^{[1
]}

Harton, Gary ^{[3
]}

Sessa, Mariateresa ^{[1
]}

Pantos, Kostantinos ^{[2
]}

机构：

[1] GENOMA Mol Genet Lab, I-00198 Rome, Italy

[2] Genesis Athens Hosp, Ctr Human Reprod, Athens, Greece

[3] Genet & IVF Inst, Fairfax, VA 22039 USA

来源：

FERTILITY AND STERILITY | 2010年 / 94卷 / 06期

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; ESHRE PGD CONSORTIUM; ROBERTSONIAN TRANSLOCATIONS; BIOPSY; CYCLES; STRATEGIES; ANEUPLOIDY; EFFICIENCY;

D O I：

10.1016/j.fertnstert.2009.12.063

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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. (Fertil Steril (R) 2010;94:2001-11. (C) 2010 by American Society for Reproductive Medicine.)

引用

页码：2001 / U117

页数：17

共 33 条

[1] Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates [J].