作者
Lieselot Deleye, Annelies Dheedene, Dieter De Coninck, Tom Sante, Christodoulos Christodoulou, Björn Heindryckx, Etienne Van den Abbeel, Petra De Sutter, Dieter Deforce, Björn Menten, Filip Van Nieuwerburgh
发表日期
2015/11/30
期刊
Fertility and sterility
卷号
104
期号
5
页码范围
1276-1285. e1
出版商
Elsevier
简介
Objective
To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a resolution that is more appropriate for preimplantation genetic diagnosis (PGD) in translocation carriers.
Design
Study of diagnostic accuracy.
Setting
University hospital.
Patient(s)
Fifteen patients with a balanced structural rearrangement were included in the study: eight reciprocal translocations, four Robertsonian translocations, two inversions, and one insertional translocation.
Intervention(s)
Trophectoderm biopsy was performed on 47 blastocysts.
Main Outcome Measure(s)
In the current study, shallow whole genome MPS on a NextSeq500 (Illumina) and Ion Proton (Life Technologies) instrument was performed in parallel on 47 whole genome amplified trophectoderm samples. Data analyses were performed using the QDNAseq algorithm implemented in Vivar …
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