Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

  • Eduardo C. Lau
  • Marleen M. Janson
  • Mark R. Roesler
  • Ellis D. Avner
  • Estil Y. Strawn
  • David P. Bick



To develop a reliable preimplantation genetic diagnosis protocol for couples who both carry a mutant PKHD1 gene wishing to conceive children unaffected with autosomal recessive polycystic kidney disease (ARPKD).


Development of a unique protocol for preimplantation genetic testing using whole genome amplification of single blastomeres by multiple displacement amplification (MDA), and haplotype analysis with novel short tandem repeat (STR) markers from the PKHD1 gene and flanking sequences, and a case report of successful utilization of the protocol followed by successful IVF resulting in the birth of an infant unaffected with ARPKD.


We have developed 20 polymorphic STR markers suitable for linkage analysis of ARPKD. These linked STR markers have enabled unambiguous identification of the PKHD1 haplotypes of embryos produced by at-risk couples.


We have developed a reliable protocol for preimplantation genetic diagnosis of ARPKD using single-cell MDA products for PKHD1 haplotyping.


Preimplantation genetic diagnosis Autosomal recessive polycystic kidney disease Multiple displacement amplification PKHD1 haplotype analysis Linkage analysis with linked STR markers 



The excellent support of our colleagues Barbara Szlendakova, Amy Granlund, Dr. Peter vanTuinen, Brent Wells, Sarah Bick and Bridget Lawler are gratefully acknowledged.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Eduardo C. Lau
    • 1
    • 2
    • 3
  • Marleen M. Janson
    • 1
    • 2
    • 3
  • Mark R. Roesler
    • 4
  • Ellis D. Avner
    • 1
    • 2
    • 5
  • Estil Y. Strawn
    • 4
    • 6
  • David P. Bick
    • 1
    • 2
    • 3
    • 6
  1. 1.Department of PediatricsMedical College of WisconsinMilwaukeeUSA
  2. 2.Children’s Research InstituteChildren’s Hospital and Health System of WisconsinMilwaukeeUSA
  3. 3.Human and Molecular Genetics CenterMedical College of WisconsinMilwaukeeUSA
  4. 4.Reproductive Medicine Clinic, Froedtert Memorial Lutheran HospitalMilwaukeeUSA
  5. 5.Comprehensive Renal Disease ProgramChildren’s Hospital of WisconsinMilwaukeeUSA
  6. 6.Department of Obstetrics and GynecologyMedical College of WisconsinMilwaukeeUSA

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