Advanced Genetic Testing at Midwest Reproductive Center
• Bloom Syndrome
|• Marfan’s Disease
• Mucolipidosis Type I
• Muscular Distrophy
• Nismann-Pick Disease
• Spinal Muscular Atrophy
• Sickle Cell Anemia
Dr. Gehlbach oversees advanced genetic testing, and consults with parents-to-be to explain the applications for each progressive option.
Preconception testing helps anyone planning to get pregnant one day learn more about their status as a carrier of inheritable genetic disease. A simple blood or saliva test can reveal risks and potential health problems that you could pass along to your baby.
Preimplantation genetic screening (PGS) searches maternal and paternal DNA for chromosomal abnormalities called aneuploidy. Examples of chromosomal abnormalities include Down Syndrome and trisomy 21. Couples with a history of recurrent miscarriage, failed IVF cycles, or women over 40 trying to conceive may consider PGS prior to IVF.
Preconception genetic diagnosis (PGD) uses information gleaned in preconception testing or PGS to provide a roadmap for Dr. Gehlbach and the Midwest Reproductive Center embryologists as they search for aneuploidy and specific single gene defects in an embryo. For example, should preimplantation genetic screening reveal the presence of an inheritable disease such as cystic fibrosis, sickle cell anemia or Huntington’s, a targeted search will take place to identify embryos unaffected by the marker. Only these embryos are transferred during the embryo transfer.
A cycle of IVF will proceed as usual, with ovulation suppression, ovulation induction, an hCG trigger shot and egg retrieval. At this point, Dr. Gehlbach will work with the IVF lab to perform preimplantation genetic diagnosis which involves testing embryonic cells.
Testing takes place in the Midwest Reproductive Center lab 3 days after fertilization occurs, allowing the embryo to develop into eight cells.
Step 1: During Day 3 biopsy, a single cell is removed from the embryo and the biopsy is sent off to a
reference lab for genetic examination.
Research shows that embryo biopsy in association with PGD or PGS does not impact the developing embryo.
Step 2: Geneticists evaluate the cell retrieved in an embryo biopsy to ascertain whether that particular embryo carries the gene defect identified in previous screening tests.
Step 3: Based on lab reports sent to the clinic on day 5, Dr. Gehlbach will transfer unaffected embryo(s) to the uterus.
Should you decide to incorporate preimplantation genetic diagnosis into your IVF cycle, Dr. Gehlbach will recommend consulting with a genetic counselor prior to and throughout the fertility treatment process.
The advantages of PGD and PGS include improved IVF success rates, and a decreased risk of miscarriage, multiple births and having a child with an inheritable genetic disease or chromosomal abnormality.
Contact Midwest Reproductive Center to discuss the benefits of preconception testing, including PGS and PGD. Dr. Gehlbach describes genetic testing as the diagnosis that helps determine a detour.