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Related Experiment Videos

Preimplantation testing for phenylketonuria.

Y Verlinsky1, S Rechitsky, O Verlinsky

  • 1Reproductive Genetics Institute, Chicago, Illinois, USA. rgi@flash.net

Fertility and Sterility
|July 31, 2001
PubMed
Summary
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Preimplantation genetic diagnosis successfully prevented phenylketonuria (PKU) transmission. This method enabled the birth of healthy children from parents at high risk for PKU.

Area of Science:

  • Reproductive genetics
  • Medical genetics
  • In vitro fertilization

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder.
  • Couples with a 50% risk of having a child with PKU require reproductive options.
  • Preimplantation genetic diagnosis (PGD) offers a method to select unaffected embryos.

Purpose of the Study:

  • To achieve a pregnancy free of phenylketonuria using PGD.
  • To evaluate the efficacy of polar body (PB) analysis for PGD in PKU.

Main Methods:

  • In vitro fertilization (IVF) with embryo transfer (ET).
  • DNA analysis of first and second polar bodies (PB1 and PB2) from oocytes.
  • Transfer of embryos predicted to be free of PKU mutations.

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Main Results:

  • Eleven zygotes were analyzed using PB1 and PB2.
  • Six zygotes were predicted to be free of PKU.
  • Four unaffected embryos were transferred, resulting in a twin pregnancy.

Conclusions:

  • PGD for PKU resulted in the birth of healthy, PKU-free children.
  • PB analysis for PGD is clinically valuable for couples with a compound heterozygous male partner.