Successful polar body-based preimplantation genetic diagnosis for achondroplasia

REPRODUCTIVE BIOMEDICINE ONLINE

卷:16

Article

Altarescu, G.²  Renbaum, P.²  Brooks, B.¹  Margalioth, E. J.¹  Ben Chetrit, A.¹  Munter, G.¹  Levy-Lahad, E.^1,2  Eldar-Geva, T.¹ 

[1] Shaare Zedek Med Ctr, IVF Unit, Internal Med Dept, ZOHAR PGD Lab, IL-91031 Jerusalem, Israel

[2] Shaare Zedek Med Ctr, Shaare Zedek Med Ctr, IL-91031 Jerusalem, Israel

关键词: achondroplasia;    FGFR3 gene;    multiplex fluorescent PCR;    PGD;    polar body biopsy;    single-cell PCR;   

DOI  :  10.1016/S1472-6483(10)60586-X

来源: Elsevier

【 摘 要 】

Achondroplasia, the most common form of dwarfism, is a candidate for preimplantation genetic diagnosis (PGD) because a single mutation accounts for almost all cases. Multiplex fluorescent assay including the common G380R mutation in the FGFR3 gene and eight close polymorphic markers was developed. First and second polar bodies (PB) were used for PGD analysis. An affected woman was treated with routine long-protocol ovarian stimulation and puncture. In the first PGD cycle, out of four fertilized oocytes, PB analysis revealed two mutant oocytes, one with total amplification failure of the maternal allele and one with inconclusive results. In the second PGD cycle, 14 oocytes were retrieved following a higher FSH dose and by performing oocyte retrieval and by placing the patient in the anti-Trendelenburg position using abdominal pressure to allow all follicles to be drained. Following PB analysis, two embryos containing the wild-type FGFR3 allele were transferred. This led to an uncomplicated pregnancy and delivery by Caesarean section at week 38 of a healthy boy, carrying the FGFR3 wild-type maternal allele. In conclusion, oocyte retrieval, while difficult in patients with achondroplasia, can be successfully performed. PB analysis is a reliable and sensitive method for PGD for maternal achondroplasia.

【 授权许可】

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