QuestionHello from PA...
My husband and are thinking of trying for another baby. I just turned 40 & he is 42. There will be some planning involved, as I would have to get off my current meds (Ritalin & Wellbutrin XL). I'm aware of my health risks & just sort of scratching the surface on the genetic risks to the baby. WE would like to try to get pregnant naturally (if we are unable to conceive this way, we will leave it at that).
My question is: what genetic testing is available (with 40 year old eggs in mind) before we try to conceive? How accurate are they?
Also, how accurate are the 1st trimester non-invasive tests?
AnswerHello Jess from the U.S.(Pennsylvania),
The answers to your questions are ready available on the internet in more specific form, so I will not go over those details. In general, if you are interested in a general genetic screen, to make sure you and your husband are not carrying some abnormality that you might transmit to a fetus, then you can have chromosomal testing (blood test) and a Counsyl test (oral swab). The chromosome testing would make sure your chromosomes are normal, whereas the Counsyl test will look for specific abnormalities that might be on the chromosomes such as Tay Sachs, Hemophilias, Cystic Fibrosis, etc.
In terms of genetic screening for the embryo, the only test that can be done prior to implantation is preimplantation genetic screening (PGS). You would have to do IVF in order to do this test, which is the method to retrieve eggs, fertilize them, grow them into blastocysts and then biopsy them to check for chromosomal abnormalities. It is recommended in women over 36 years old. It can decrease your chances of failure of the procedure, risk of miscarriage and risk of a genetically abnormal fetus, although it is not 100% because there is more fetal development that takes place after the embryos are transferred back. At 40 years old, your risk of Down's syndrome, for example, is 1/100 pregnancies. PGS could eliminate that risk.
1st trimester testing, such as CVS, is 99% accurate. Other tests such as the newer fetal cell testing in your blood is a less, but I am not expert on this so you would need to look it up. There are no other 1st trimester tests that I know of.
Good Luck,
Dr. Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
www.montereybayivf.com
info@montereybayivf.com
Monterey, California, U.S.A.
for additional information check out my blog at http://womenshealthandfertility.blogspot.com check me out on twitter with me at @montereybayivf and facebook @montereybayivf. Skype and internet comprehensive consultations now available via my website for those who want a more extensive evaluation that this site can accommodate. I also now provide an Email Concierge Advisory Service with a 1 year subscription for patients that want easy access to me to answer questions along their journey (women's health, infertility, pregnancy). Contact me at ejrmd@montereybayivf.com if you are interested in continuous access to me.
