Abstract
Purpose
Development of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PGD.
Methods
The 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.
Results
Six 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.
Conclusions
We 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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Acknowledgments
We would like to thank Rabbi David and Anita Fuld for their generous and ongoing support.
Disclosure of interests
Nothing to disclose
Contribution to authorship
Gheona Altarescu and Paul Renbaum were the principal investigators and responsible with the design of the methods, genetic counseling and analysis of all cases.
Talia Eldar Geva and Ehud J. Margalioth were the IVF physicians that performed all the IVF cycles of these patients.
Baruch Brooks, Edith Zylber-Haran PhD and Irit Varshaver were the embryologist that performed all the polar body and blastomere biopsies
Ephrat Levy-Lahad was involved in the analysis of the cases.
Ethics approval
The PGD is performed in our medical center as routine medical procedure and is not experimental therefore IRB was not required.
Funding
The funding was partly provided by the HMOs and partly by a private fund of Fuld family (see acknowledgments).
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Capsule
A PGD protocol is presented for nonsyndromic deafness. Blastomere analysis was found to be preferable to polar body analysis for the GJB2 and GJB6 genes.
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Altarescu, G., Eldar-Geva, T., Brooks, B. et al. Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. J Assist Reprod Genet 26, 391–397 (2009). https://doi.org/10.1007/s10815-009-9335-5
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DOI: https://doi.org/10.1007/s10815-009-9335-5