Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease

Reprod Biomed Online. 2008 Jan;16(1):152-8. doi: 10.1016/s1472-6483(10)60569-x.


Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases, and is caused by mutations in the PKHD1 gene. Due to the poor prognosis, there is a strong demand for prenatal diagnosis. Preimplantation genetic diagnosis (PGD) represents an alternative because it avoids the physical and emotional trauma of a pregnancy termination in the case of an affected fetus. A standardized single-cell diagnostic procedure was developed, based on haplotype analysis, enabling PGD to be offered to couples at risk of transmitting ARPKD. Six linked markers within (D6S1714 and D6S243), or in close proximity to (D6S272, D6S436, KIAA0057, D6S1662) the PKHD1 gene were tested by multiplex nested-polymerase chain reaction (PCR), using a Qiagen multiplex PCR kit. PCR analyses were carried out on 50 single lymphocytes. The amplification rate was excellent (100%), with an allele drop-out (ADO) rate ranging from 0 to 8%. Five PGD cycles were performed and 23 embryos were biopsied and analysed using this test. Transferable embryos were obtained in 4 cycles, resulting in two pregnancies and the birth of a healthy boy. This standardized diagnostic procedure allowed the detection of recombination, contamination, and ADO events, providing high assay accuracy with wide applicability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Female
  • Genetic Testing / methods
  • Humans
  • Male
  • Mutation / genetics
  • Nucleic Acid Amplification Techniques
  • Pedigree
  • Polycystic Kidney, Autosomal Recessive / diagnosis*
  • Polycystic Kidney, Autosomal Recessive / etiology
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Polymerase Chain Reaction
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Prenatal Diagnosis / methods*
  • Receptors, Cell Surface / genetics
  • Risk Factors


  • PKHD1 protein, human
  • Receptors, Cell Surface