Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier  

Oleh:

Treff, Nathan R. ; Tao, Xin ; Schillings, Wendy J. ; Bergh, Paul A.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 01 (Jul. 2011), page e58-e65.
Topik: Aneuploidy; preimplantation embryo; Alagille syndrome; translocation; microdeletion

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Objective To prove the ability to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Design Case report. Setting Academic center for reproductive medicine. Patient(s) Woman with a balanced translocation causing Alagille syndrome seeking preimplantation genetic diagnosis (PGD). Intervention(s) Blastocyst biopsy for PGD. Main Outcome Measure(s) Consistency of 3 methods of embryo genetic analysis (real-time polymerase chain reaction, single nucleotide polymorphism [SNP] microarray, and fluorescence in situ hybridization [FISH]) and normalcy in the newborn derived from PGD. Result(s) PGD was applied to 48 embryos. Real-time polymerase chain reaction, SNP microarray, and FISH demonstrated 100% consistency, although FISH failed to detect aneuploidies observed by comprehensive SNP microarray-based analyses. Two blastocysts were identified to be normal for all 3 factors using SNP microarray technology alone. The 2 normal embryos were transferred back to the patient, resulting in the delivery of a healthy boy with a normal karyotype. Conclusion(s) This is the first report of validation and successful clinical application of microarray-based PGD to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.

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