Preconception and Prenatal Genetic Testing Explained by a Genetic Counselor
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- Опубликовано: 5 авг 2024
- Katie Lee is a certified genetic counselor with 7+ years of practice in reproductive medicine. She has worked for one of the most well-known IVF clinics in the United States and a laboratory that offers fertility-related genetic testing. She is currently employed by one of the largest sperm banks in the US. Katie started this RUclips channel to support people going through fertility treatment and miscarriages. On this channel Katie discusses topics in fertility/preconception genetic counseling and her own personal experience with unexplained recurrent pregnancy loss.
Check out Katie Lee's website and fertility and miscarriage-related digital downloads here: www.katieleecgc.com/shop
You can find her relevant blog posts here: www.katieleecgc.com/blog/cate...
Today Katie discussed nine different types of preconception and prenatal genetic tests. If you are planning to conceive anytime soon or you are currently pregnant you should know about each of these genetic tests. If you are interested in prenatal or preconception genetic counseling this is a great video to learn a bit more about the different test options available in 2021. During this video I will provide an overview of carrier screening, different types of PGT (preimplantation genetic testing), NIPT (non-invasive prenatal testing), CVS and amniocentesis.
Find a Test
0:00 Intro
1:14 Carrier Screening (Preconception)
3:49 Hereditary Diseases in your Family (Preconception)
5:24 Preimplantation Genetic Testing (PGT, Preconception)
6:39 PGT-A (Aneuploidy)
7:22 PGT-M (Monogenic Diseases)
8:17 PGT-SR (Structural Rearrangements)
9:09 PGT-P (Polygenic Diseases)
10:21 Prenatal Testing
10:29 Noninvasive Prenatal Testing (NIPT)
11:30 Chorionic Villus Sampling (CVS)
12:17 Amniocentesis
If you're interested in carrier screening check out these labs:
myriadwomenshealth.com/patien...
sema4.com/products/expandedca...
If you're interested in PGT, consider these labs:
www.igenomix.com/our-services...
www.natera.com/womens-health/...
If you're interested in NIPT (non-invasive prenatal testing), check out my video where I share my NIPT results: • Panorama Non-Invasive ...
Katie Lee is a certified genetic counselor with over five years of practice in reproductive medicine. She has worked for one of the most well-known IVF clinics in the United States and also for a genetic testing laboratory that offers fertility related genetic testing. She is currently employed by one of the largest sperm banks in the US and started this RUclips channel to support people going through fertility treatment and miscarriages. On this channel Katie discusses topics in fertility/preconception genetic counseling and her own personal experience with unexplained recurrent pregnancy loss.
This content is for educational and informational purposes only. This video is not a substitute for professional medical advice. Please contact your doctor or other qualified healthcare provider with any questions you may have regarding medical advice, your condition or treatment.
Which genetic test would you like to hear more about first?
Great info. Thanks.
Thanks for watching!
What NIPT would you recommend for an obese woman that had low fetal fraction with the panorama test at about 10-11 weeks? I heard Verifi by illumina might be an option. Any advice would be great. Thank you
Great Video!!! I got negative results for preconception genetic carrier testing for 274 diseases. DO I still need to have CVS or any other genetic testing when pregnant?
Thank you so much for the informative video. I came here to understand PGD for crohns disease, and now i know that it's part of PGD-P.
Do you have any insight about doing PGD-P for crohns disease...
Hi Hana. Thanks for your question. To my knowledge, the cause of Crohn's is still poorly understood, so there is no type of PGT available for Crohn's disease. Essentially, if a specialist cannot find a genetic cause of Crohn's by using genetic testing in you (or another living patient) there is typically no testing available for embryos. There are just still so many multifactorial conditions (e.g. multiple sclerosis, developmental delay, bipolar disorder, asthma/allergies) that we do not yet understand the cause of and still cannot test for. I would still encourage you to talk with your clinician who sees you for Crohn's as well as your fertility doctor or OB/GYN about your Crohn's questions as it is out of my area of expertise. In addition, a certified genetic counselor could take your family and personal history and provide you with a personalized risk estimate for the chances to have a child affected with Crohn's vs. not affected.
samples were taken from my embryos for PGT-A testing, can same sample be used for PGT-A as well, meaning that run both testing? Also my career screening test was negative for all genes tested, do I still need to do PGT-P, PGT-M, or PGT-SR tests?
Is harmony test accurate?
We recently suffered a missed miscarriage. Pathology came back as trisomy 13 and now we are about to see a genetic counselor by obgyn referral. Which tests are we looking at for this case and are there any other tests we should push for?
Do people who do not have a family history of these diseases ever get both Carrier screening and NIPT during pregnancy? Also, are there other tests that reveal the gender early in pregnancy?
Are there any pre-implantation/prenatal tests for mtDNA diseases?
If you are worried about a mitochondrial disease in you or your family, an adult geneticist could evaluate you and test you if appropriate. As far as testing embryos for mtDNA disease, I do not believe this is a possibility or in the works at this time. There have been "three parent babies/embryos" where a woman with a mitochondrial disorder has the nucleus of her egg transferred into a healthy donor's egg and then fertilized by the sperm source, thus significantly reducing the risk for mitochondrial disease while still passing on the mother's nuclear DNA. Using an egg donor would also be a straightforward approach to significantly reduce the risk for mtDNA disease if the mom has one.
Some genetic conditions are dominant in nature.
Is there any specific genetic testing that would target mental health conditions?
This is a great question. For the vast majority of psychiatric diagnoses, the exact causes are not yet well understood. Experts believe a combination of many genetic changes (from both the egg source and the sperm source) in addition to environmental factors/triggers (stressful life events, certain drug use/abuse, poor sleep hygiene, etc) can lead to a psychiatric episode/diagnosis. Because psych conditions are so complicated, there is no testing for embryos or even living people that can successfully predict risk to develop a psych disorder with a high level of accuracy.
Have you heard of these tests being done without your knowledge?
Definitely not! These are tests the patient should be consented to and decide whether or not they wish for them to be done after learning about the pros, cons, and accuracy from their doctor.
Plss madam, are you on Instagram of yes, your handle... Need to talk to you about something please