Skip to main content
Log in

Accuracy of Preimplantation Diagnosis of Single-Gene Disorders by Polar Body Analysis of Oocytes

  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose: A number of pitfalls in single-cell DNA analysis, including undetected DNA contamination, undetected allele drop out, and preferential amplification, may lead to misdiagnosis in preimplantation genetic diagnosis of single-gene disorders.

Methods: Preimplantation genetic diagnosis was performed by sequential first and second polar body analysis of oocytes in 26 couples at risk for having children with various single-gene disorders. Mutant genes were amplified simultaneously with linked polymorphic markers, and only embryos resulting from the mutation-free oocytes predicted by polar body analysis with confirmation by polymorphic marker testing were transferred back to patients.

Results: Overall 529 oocytes from 48 clinical cycles (26 patients) were tested, resulting in the transfer of 106 embryos in 44 clinical cycles. As many as 46 (9.6%) instances of allele dropout were observed, the majority (96%) of which were detected. Seventeen unaffected pregnancies were established, of which nine resulted in the birth of an unaffected child, and the rest are ongoing.

Conclusions: A high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  1. Rechitsky S, Freidine M, Verlinsky Y, Strom C: Allele drop-out in sequential analysis of single cells by PCR and FISH. J Assist Reprod Genet 1996,13:115-124

    Google Scholar 

  2. Findlay I, Quirke P: Fluorescent polymerase chain reaction: Part I. A new method allowing genetic diagnosis allowing genetic diagnosis and DNA fingerprinting of single cells. Hum Reprod Update 1996;2(2):137-152

    Google Scholar 

  3. Ray P, Winston R, Handyside A: Reduced allele drop-out in single cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J Assist Reprod Genet 1996;13:104-106

    Google Scholar 

  4. Rechitsky S, Strom C, Verlinsky O, Amet T, Ivakhnenko V, Kukharenko V, Kuliev A, Verlinsky Y: Allele dropout in polar bodies and blastomeres. J Assist Reprod Genet 1998;15(5):253-257

    Google Scholar 

  5. Verlinsky Y, Rechitsky S, Cieslak J, Ivakhnenko V, Wolf G, Lifchez A, Kaplan B, Moise J, Walle J, White M, Ginsberg N, Strom C, Kuliev A: Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body. Biochem Mol Med 1997;62:182-187

    Google Scholar 

  6. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Evsikov G, Wolf G, Angastiniotis M, Georghiou D, Kukharenko V, Strom C, Verlinsky Y: Preimplantation diagnosis of thalassemias. J Assist Reprod Genet 1998;15(5):219-225

    Google Scholar 

  7. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Cieslak J, Evsikov S, Wolf G, Angastiniotis M, Kalakoutis G, Strom C, Verlinsky Y: Birth of healthy children after preimplantation diagnosis of thalassemias. J Assist Reprod Genet 1999;16:184-188

    Google Scholar 

  8. Ijlst L, Ruiter JP, Vreijling J, Wanders RJ: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A new method to identify the G1528C mutation in genomic DNA showing its high frequency (≈90%) and identification of a new mutation (T2198C). J Inher Metab Dis 1996;19:165-168

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rechitsky, S., Strom, C., Verlinsky, O. et al. Accuracy of Preimplantation Diagnosis of Single-Gene Disorders by Polar Body Analysis of Oocytes. J Assist Reprod Genet 16, 192–198 (1999). https://doi.org/10.1023/A:1020312823155

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1020312823155

Navigation