Preimplantation Genetic Diagnosis for Autosomal Recessive Polycystic Kidney Disease

It now is possible for physicians to offer preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease to couples at risk of bearing a child with this disorder. The PGD procedure allows genetic testing to be performed on early embryos before implantation for the purpose of selecting only those embryos that are unaffected by ARPKD for uterine transfer.
 
Children’s Hospital of Wisconsin, Froedtert Hospital and the Medical College of Wisconsin offer PGD for ARPKD.
 
Couples who are known to be carriers and/or have had a child with ARPKD and who are considering a pregnancy face a 1 in 4 (25 percent) chance in each future pregnancy of having a child with the disease. Some couples opt for prenatal diagnosis during pregnancy to determine whether a pregnancy is affected.
 
An alternative to prenatal testing for ARPKD now is available using in-vitro fertilization with PGD to identify an unaffected embryo. In-vitro fertilization is the process of combining eggs and sperm to form embryos in the laboratory. IVF is often used to help couples with infertility have a child. Preimplantation genetic diagnosis is a procedure to analyze the genetic make-up of embryos formed through IVF for determination of disease status. Couples at risk for ARPKD can use PGD to test for this disease. Based on this analysis, embryos that are not affected with ARPKD can be selected for transfer to the uterus to establish a pregnancy.
 
PGD process for the purpose of ARPKD testing
Parents and their affected child, if/when possible, will first undergo blood tests to determine whether the PGD process will be feasible. If these tests show that PGD is possible, the parents will undergo an IVF cycle to form embryos.
 
The embryos created are sampled on the third day of development when they have approximately 6 to 8 cells. One or two cells are taken from each embryo for testing using PCR. The embryo is incubated until testing is complete. Each embryo has a 1 in 4 chance of being affected with ARPKD. By testing these cells for deletions in the PKHD1 gene, only those embryos determined to be unaffected (having one or two working copies of the gene) are selected for transfer back into a woman’s uterus. Thus, the chance to have an unaffected pregnancy is greatly increased.
 
The Risks of PGD
The biopsy technique required to perform PGD has been in use since 1990. The likelihood of damage to an embryo during the removal of cells is low, but it can occur. This can result in a decreased chance of embryo survival. When compared to IVF without PGD, there is a somewhat decreased chance for embryo survival among embryos that have undergone PGD. IVF with PGD is not known to lead to an increased chance for congenital abnormalities, birth defects, mental retardation, or other abnormal development when compared to natural pregnancies. However, a normal pregnancy outcome is not guaranteed.
 
Overall, PGD is an accurate process for determining whether an embryo is affected with ARPKD. There is a small risk of error or technical limitation that will prevent us from determining whether the sampled embryos have ARPKD. Because of this and the fact that we do not test for other genetic conditions or chromosome problems, the option of testing early in pregnancy through prenatal diagnosis is available.
 
Preventative Measure during PGD Cycle
It is important for couples undergoing PGD to alter their sexual activity during the PGD cycle. Couples must refrain from intercourse until the cycle is complete.
 
Cost of PGDM
IVF with PGD is expensive. Insurance companies generally do not cover the cost of IVF with or without PGD. We will provide you with a detailed cost analysis for IVF and PGD at your request.
 
Contact Information
Requests for information regarding the Children’s Hospital of Wisconsin, Froedtert Hospital and Medical College of Wisconsin PGD program and IVF can be obtained by contacting the Reproductive Medicine Clinic at (414) 805-7370 or by sending e-mail to pgd@mcw.edu. Information regarding PGD for the purpose of ARPKD testing can be discussed in more detail with our geneticist or genetic counselor.