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?
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?
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.
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?
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
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.
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.
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.
Which genetic test would you like to hear more about first?
Great info. Thanks.
Thanks for watching!
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?
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?
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.
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?
Some genetic conditions are dominant in nature.
Is harmony test accurate?
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
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.
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