ArticleJournal of assisted reproduction and genetics2009
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
Article in Journal of assisted reproduction and genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 25 citations in OpenAlex.
- Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.Journal of assisted reproduction and genetics · 2025Article
- Preimplantation genetic testing for hereditary hearing loss in Chinese population.Journal of assisted reproduction and genetics · 2023Article
- Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.Diagnostics (Basel, Switzerland) · 2021Article
- Hearing Phenotypes of Patients with Hearing Loss Homozygous for theNeural plasticity · 2020Article
- Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.Oncology letters · 2018Article
- Preimplantation genetic diagnosis for inherited neurological disorders.Nature reviews. Neurology · 2014Review
- Preimplantation genetic diagnosis: its role in prevention of deafness.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2014Article
- Preimplantation genetic diagnosis and deafness.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2012Article
- Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.Journal of assisted reproduction and genetics · 2011Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDevelopment of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PGD.
methodsThe GJB2/GJB6 mutations along with 12 polymorphic markers were used in PGD analysis of blastomeres or polar bodies in 14 couples for 35 cycles. Marker informativity, diagnosis rates, Allele Drop Out (ADO) rates and PB1 heterozygosity rates were assessed.
resultsSix cycles were performed by PB biopsy, 27 by blastomere and two combined cycles, resulting in delivery of three unaffected children and five ongoing pregnancies. Diagnosis rates for PB and blastomeres were similar. Only 17% PB1s were heterozygote. ADO rates of 19% were observed in both groups.
conclusionsWe have developed a single cell multiplex PGD protocol for nonsyndromic deafness with a high efficiency of diagnosis. Most PB1 are homozygous, and similar ADO rates were observed; therefore, blastomere biopsy appears to be the method of choice for this autosomal recessive disease.
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