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Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

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Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Women's Health, Barcelona, Spain.
Service of Reproduction Medicine, Obstetrics, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Women's Health, Barcelona, Spain.
Research and Development Department, qGenomics Laboratory, Barcelona, Spain.
Genetics Unit, Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.
Hospital del Mar Research Institute (IMIM), Barcelona, Spain.
CIBER in Rare Disorders (CIBERER), Barcelona, Spain.
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain.
Experimental Genetics Division, Sidra Medical and Research Centre, Doha, Qatar.


Next-generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS carrier-screening test (qCarrier test) that includes 200 genes associated with 368 disorders (277 autosomal recessive and 37 X-linked). Carrier screening is performed on oocyte donation candidates and the male partner of oocyte recipient. Carriers of X-linked conditions are excluded from the GD program, whereas donors are chosen who do not carry mutations for the same gene/disease as the recipients. The validation phase showed a high sensitivity (>99% sensitivity) detecting all single-nucleotide variants, 13 indels, and 25 copy-number variants included in the validation set. A total of 1,301 individuals were analysed with the qCarrier test, including 483 candidate oocyte donors and 635 receptor couples, 105 females receiving sperm donation, and 39 couples seeking pregnancy. We identified 56% of individuals who are carriers for at least one genetic condition and 1.7% of female donors who were excluded from the program due to a carrier state of X-linked conditions. Globally, 3% of a priori assigned donations had a high reproductive risk that could be minimized after testing. Genetic counselling at different stages is essential for helping to facilitate a successful and healthy pregnancy.


NGS; expanded carrier screening; gamete donors; genetic test; reproductive medicine

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