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

J Assist Reprod Genet. 2010 Jul;27(7):397-407. doi: 10.1007/s10815-010-9432-5. Epub 2010 May 20.


Purpose: 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).

Methods: 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.

Results: 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.

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

Publication types

  • Case Reports

MeSH terms

  • Female
  • Genetic Markers / genetics
  • Haplotypes
  • Humans
  • Infant
  • Microsatellite Repeats / genetics
  • Polycystic Kidney, Autosomal Recessive / diagnosis*
  • Polycystic Kidney, Autosomal Recessive / genetics
  • Polymerase Chain Reaction / methods*
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Receptors, Cell Surface / genetics*


  • Genetic Markers
  • PKHD1 protein, human
  • Receptors, Cell Surface