Patient
Information on
Preimplantation Genetic Diagnosis (PGD)
for Aneuploidy, Chromosome Translocation or X - Linked Disorders
Preimplantation Genetic Diagnosis (PGD)
for Aneuploidy, Chromosome Translocation or X - Linked Disorders
PRIOR TO YOUR IVF CYCLE:
A - Aneuploidy and X-linked disorders
1) Genetic counseling: We require that you have a consultation with our genetic counselor (Jone Sampson, M.D.) prior to undergoing PGD. To schedule a consult please call the following number 503-418-3700. If you are from out-of-town you can arrange a consult with a genetic counselor referred by your physician.
2) PGD Consent Form: We require that you sign our consent form and return it to our clinic as early as possible.
B - Chromosome Translocations
1) Genetic counseling: We require that you have a consultation with our genetic counselor (Jone Sampson,M.D.) prior to undergoing PGD. To schedule a consult please call the following number 503-418-3700. If you are from out-of-town you can arrange a consult with a genetic counselor referred by your physician.
2) PGD Consent Form: We require that you sign our PGD Informed Consent and return it to our clinic as early as possible.
3) Blood draw: For translocation carrier patients, the affected individual(s) will need 10 cc of peripheral blood to be drawn in a green-top (sodium heparin) tube in order to construct the probes specific to your translocation. To Schedule blood draws, call the IVF coordinator office at 503-418-3700.
SCHEDULING THE IVF CYCLE:
You will not be able to start your cycle until our preliminary analyses and screening tests have been completed and we have proven that the probes work properly. For translocation carrier patients, the probes may take 6 to 8 weeks after the blood is collected. We will notify you as soon as these analyses are complete so that you can begin treatment. Your cycle start will be coordinated with our staff who can be reached at 503-418-3700.
AFTER THE START OF THE CYCLE:
1) Biopsy update: On day 3 (3 days after your egg retrieval), Dr Nadia Ouhibi will review your embryo and biopsy report between 11:00am-12:00pm. Please make sure to give us your phone numbers to contact you that day.
2) Results: On day 5, the genetic results will be available to us. We will discuss the results with you prior to your embryo transfer time.
PGD FOR SINGLE GENE DISORDERS
PRIOR TO YOUR IVF CYCLE:
1) Genetic counseling: We require that you have a phone consultation with Dr. Marc Hughes (Dept. Molecular Medicine and Genetics, Wayne State Univ.) prior to undergoing PGD. To schedule a phone consult please contact Dr. Hughes at 313-993-1353.
2) Genetic reports and patient blood sample: Copies of previous genetic reports are required for each couple undergoing PGD and should be faxed to Dr. Marc Hughes at 313-544-4006. For this purpose we require blood samples from both of the prospective parents, and the affected child(ren) if applicable. The DNA will be extracted from the blood and the necessary tests will be performed to confirm the presence of a mutation and tailor the PGD test to the needs of the individual patient. This process requires 4-6 weeks or more. It is essential that Dr. Hughes receives the genetic reports and blood samples before you commence your cycle. Dr. Hughes will contact you as soon as the test is ready after which time you may begin your IVF/PGD cycle. To Schedule blood draws, call the IVF coordinator office at 503-418-3700. Your credit card number will be needed to ship the samples.
3) PGD Consent Forms: We require that you sign our OHSU PGD consent form and Dr. Marc Hughes’ PGD consent form. Please bring them back to our clinic as early as possible.
4) ICSI for PGD of single gene disorders: We will utilize intracytoplasmic sperm injection (ICSI) in all cases for PGD for single gene disorders, regardless of whether or not there is any evidence of male factor infertility. The reason for this is is to avoid the presence of surplus sperm (and their DNA) in the embryo cultures. These sperm could potentially lead to DNA contamination and therefore lead to a misdiagnosis. ICSI avoids the presence of surplus sperm.
SCHEDULING THE IVF CYCLE:
You will not be able to start your cycle until our preliminary analyses are complete and we have proven that the test is working properly. Results are usually available within 6-8 weeks.
We will notify you as soon as these analyses are complete so that you can begin treatment. Your cycle start will be coordinated with our staff who can be reached at 503-418-3700.AFTER START OF THE CYCLE:
1) Biopsy update: On day 3 (3 days after egg retrieval), Dr Nadia Ouhibi will review your embryo and biopsy report. Please make sure to give us your phone numbers to contact you that day.
2) Shipping expense: The biopsies will be sent out by Express Air courier to Dr. Marc Hughes’ laboratory in Detroit-MI at patient expense.
3) Results: On day 5, the genetic results will be available to us from the laboratory. We will discuss the results with you prior to the time of your embryo.