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

Oleh:

Fiorentino, Francesco ; Kokkali, Georgia ; Biricik, Anil

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 94 no. 06 (Nov. 2010), page 2001-2011.
Topik: Preimplantation genetic diagnosis; preimplantation genetic screening; Robertsonian translocation; reciprocal translocation; short tandem repeats; pregnancy outcome; aneuploidy origin; uniparental disomy; blastocyst; chromosomal abnormalities

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2010.06 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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.

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