Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Congenital Adrenal Hyperplasia (CAH) Hello Dr. Wu, I apologize for bothering you. My girlfriend was diagnosed with a condition related to pediatric endocrinology when she was in kindergarten. The health insurance documentation states the diagnosis as "congenital adrenal hype...
Dr. Wu Wanru reply Rare Disease
Twenty years ago, the understanding of this disease was vastly different from today. Advances in molecular genetics have significantly improved our ability to identify genetic inheritance patterns. However, this group of disorders involves a wide range of enzymes, and different t...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Can Tourette Syndrome Be Detected Through Amniotic Fluid Testing?
Can Tourette syndrome be detected through amniotic fluid testing? Hello, I would like to ask if Tourette syndrome can be detected through amniotic fluid testing. Thank you.
Dr. Wu Wanru reply Rare Disease
Tourette syndrome is currently known to have a genetic predisposition, but the mechanisms remain unclear, which is why it cannot be detected through genetic testing.[Read More] Can Tourette Syndrome Be Detected Through Amniotic Fluid Testing?
Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Amniotic fluid chip genetic abnormality shows a microdeletion of 0.92 Mb at chromosome 3p26.3? We are already far along in the pregnancy. Since discovering fetal heart abnormalities at 21 weeks, we underwent amniocentesis and genetic testing. The genetic testing revealed a deleti...
Dr. Wu Wanru reply Rare Disease
The information you are looking for pertains to symptoms caused by large deletions in the 3p region, rather than the VOUS (variants of uncertain significance) that you have currently tested positive for. However, these variants can be found in both normal and abnormal cases, and ...[Read More] Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
At 28 weeks, PRUV was only discovered, and genetic testing was not performed earlier. How can we further confirm the fetal condition? The patient is a 33-year-old woman who had a delayed labor resulting in a cesarean section for her first pregnancy. During her second pregnancy at...
Dr. Wu Wanru reply Rare Disease
Currently, what you are seeing are normal variations commonly found on ultrasound, with little correlation to rare diseases. However, there is always a possibility of unexpected findings (although the probability is extremely low). If you are very concerned about this possibility...[Read More] Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
Could You Be Pregnant? Understanding Rare Conditions and Contraceptive Use
Are you pregnant? I have been taking oral contraceptives consistently, although my timing has been somewhat irregular, I always take them within three hours of the scheduled time. However, I missed a dose on November 24th and continued taking them on November 25th, but only took ...
Dr. Wu Wanru reply Rare Disease
You still need to check if your menstrual period is overdue; a pregnancy test is necessary to confirm (even with regular medication, there is a 5% failure rate).[Read More] Could You Be Pregnant? Understanding Rare Conditions and Contraceptive Use