Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
Chromosomal abnormalities Hello Doctor: I would like to consult you because a few weeks ago I underwent amniocentesis, and the report indicated an abnormal karyotype of 45,X[3]/46,XY[21]. I asked my obstetrician, and he mentioned that if I have a child, there is a possibility of ...
Dr. Jian Yingxiu Reply:
Hello: Several days have passed, and I am wondering what decision you have made. Regardless of your choice, I am sure it is what you believe is best for the baby. If you need anything in the future, please feel free to reach out to us. Wishing you all the best.[Read More] Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
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:
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
Rare Ear Diseases: Understanding Uncommon Conditions and Symptoms
Rare diseases of the ear? Could you please tell me about rare diseases related to the ears or rare neurological disorders associated with the ears? For the past few years, I have been experiencing eye movements accompanied by sounds in my ears. Last year, I developed a blockage i...
Dr. Lai Xiangrong Reply:
Your issue is indeed rare, and there are no symptoms in rare neurological diseases that match your description. It may be advisable to consult with an ophthalmologist or an otolaryngologist to see if they can investigate the correlation of your symptoms.[Read More] Rare Ear Diseases: Understanding Uncommon Conditions and Symptoms
Understanding Chromosomal Deletions: Impacts of 9p24.3p24.2 on Health
Amniotic fluid chromosome 9 short arm? Hello Doctor, the results of the amniocentesis genetic testing indicate that the sample consists of female components with X chromosome sequences. However, there is a deletion of a 2.34 Mb microdeletion in the short arm of chromosome 9 at th...
Dr. Chen Ming Reply:
You can consult a renowned obstetrician in the area, or call 04-7238595 extension 7244 to schedule an appointment.[Read More] Understanding Chromosomal Deletions: Impacts of 9p24.3p24.2 on Health
Understanding Chromosomal Abnormalities: Impacts of Spontaneous Mutations in Infants
Chromosomal abnormalities Hello, my 20-week amniocentesis chromosomal analysis results are: arr[hg19]9p24.3p24.2(208,454_2,546,974)*1. The results indicate that this specimen is female, containing X chromosome sequences, but there is a deletion of a 2.34 Mb microdeletion in the s...
Dr. Chen Ming Reply:
You can consult a renowned obstetrician in the area or call 04-7238595 extension 7244 to schedule an appointment.[Read More] Understanding Chromosomal Abnormalities: Impacts of Spontaneous Mutations in Infants
Understanding Right-Sided Umbilical Vein PRUV: Genetic Links and Risks
Right umbilical vein PRUV Hello Dr. Chen, I underwent a high-level ultrasound at 22 weeks of pregnancy and was diagnosed with "PRUV (Persistent Right Umbilical Vein)" on the right side, which is considered rare and has limited related cases. Could this be caused by gene...
Dr. Chen Ming Reply:
For your safety, please consult a well-known obstetrician in your area. There are no certainties in this matter; only amniocentesis can provide a definitive diagnosis for Down syndrome. NIPS (Non-Invasive Prenatal Screening) has a sensitivity of 99%, but it cannot definitively de...[Read More] Understanding Right-Sided Umbilical Vein PRUV: Genetic Links and Risks
Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Chromosomal deletion The deletion at 138275 is located at the long arm of chromosome 15, specifically at q11.2, within the region from 22,770,421 to 23,282,798, which corresponds to OMIM (615656). What potential impacts could this have? The blood test has confirmed it is heredita...
Dr. Chen Ming Reply:
Please scan your report and send it to [email protected]. Additionally, call 04-7238595 ext. 7244 to request assistance from a genetic counselor to add me to the Chang Gung Memorial Hospital outpatient clinic. God bless you. [The case results do not specify the genome version...[Read More] Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Understanding Chromosome Deletions: Can My Baby Be Born Healthy?
Chromosomal deletion After the amniocentesis, it was found that there is a 512kb deletion at the 11.2 region of chromosome 15. Further testing indicated that this genetic alteration was inherited from my husband. I would like to know if this baby can be born healthy.
Dr. Chen Ming Reply:
In principle, it is possible, but you must bring a report for the consultation. Individual judgments will be made. God bless.[Read More] Understanding Chromosome Deletions: Can My Baby Be Born Healthy?
Exploring One-Stop IVF Solutions for Rare Disease Challenges
One-stop IVF services Hello Dr. Chen, I have undergone in vitro fertilization (IVF) at National Taiwan University Hospital and have also had preimplantation genetic screening (PGS). Today, I came across information online regarding a comprehensive IVF service. The reason we are...
Dr. Chen Ming Reply:
Understood. Since the outpatient services at National Taiwan University are temporarily suspended, you may want to first call the genetic counselor at Changhua Christian Hospital or visit the outpatient clinic there for inquiries.[Read More] Exploring One-Stop IVF Solutions for Rare Disease Challenges
Understanding the Impact of 7q11.22 Deletion on Baby's Health
Amniotic fluid chip deficiency issue? Dear Doctor, I recently underwent amniocentesis, and it was found that my baby girl has a deletion of a 252 kb segment on the long arm of chromosome 7 at the 7q11.22 region (69,521,716_69,773,395), which happens to be within the AUTS2 gene, ...
Dr. Chen Ming Reply:
Please call 04-7238595 extension 7244 to arrange an outpatient appointment. Wait for the results for your parents to come in together.[Read More] Understanding the Impact of 7q11.22 Deletion on Baby's Health
Understanding Y Chromosome Deletions: Risks and Concerns for Your Baby
Chip, Y chromosome mutation abnormalities? Hello Doctor, I have a baby boy. I underwent amniocentesis, and the results were normal. However, the chromosomal analysis indicated a deletion in the AZFc region of the Y chromosome, which is a mutation rather than hereditary. I am curr...
Dr. Chen Ming Reply:
In principle, it only affects fertility, but it is recommended to consult a specialist in an outpatient clinic for formal advice.[Read More] Understanding Y Chromosome Deletions: Risks and Concerns for Your Baby
Amniotic Membrane Repair and Fluid Infusion After Water Break?
Is it appropriate to perform amniotic membrane repair and amniotic fluid infusion after the rupture of membranes? Hello Doctor, I would like to ask for your advice. I underwent a McDonald cerclage at 16 weeks, and at 20 weeks, I experienced cervical softening with slight bleedi...
Dr. Chen Ming Reply:
Peace: Your issue is not solely related to ruptured membranes; it also involves cervical structural instability. Essentially, amniotic membrane repair requires specific conditions: for example, the uterine cavity must be confirmed to be free of infection, and the cervical structu...[Read More] Amniotic Membrane Repair and Fluid Infusion After Water Break?
Understanding Balanced Chromosomal Translocation in Pregnancy: Expert Advice
Chromosomal balanced translocation Dr. Chen: Hello, I am currently almost 20 weeks pregnant. During the amniocentesis, it was found that there is a balanced translocation involving the 4th and another chromosome. The amniotic fluid chromosomal microarray report showed no pathogen...
Dr. Chen Ming Reply:
You can call 04-7238595 ext 7244 during business hours for inquiries.[Read More] Understanding Balanced Chromosomal Translocation in Pregnancy: Expert Advice
Managing Low Amniotic Fluid in Twin Pregnancies: Risks and Options
Twin low-lying rupture of membranes? Hello Dr. Chen: I have undergone artificial insemination and am currently expecting fraternal twins. At 22 weeks and 5 days of pregnancy, I experienced premature rupture of membranes, which was diagnosed as low-lying rupture of membranes. Afte...
Dr. Chen Ming Reply:
It is truly a blessing from God to have reached this point without any infection. There is no need for amniotic membrane repair. I hope you can at least maintain this until 28 weeks, as the prognosis would be very optimistic.[Read More] Managing Low Amniotic Fluid in Twin Pregnancies: Risks and Options
Understanding Chromosomal Abnormalities: PGS and PGD Options for Parents
Chromosomal abnormalities Hello Dr. Chen: I am pregnant with a pair of twins who have chromosomal abnormalities, specifically a microdeletion at the 22q11.21 region detected through amniocentesis with chromosomal microarray analysis. We ultimately decided to terminate the pregnan...
Dr. Chen Ming Reply:
This issue is very complex. Please come to the Department of Genetic Medicine at National Taiwan University or the Changhua Christian Hospital outpatient clinic for a face-to-face discussion. God bless.[Read More] Understanding Chromosomal Abnormalities: PGS and PGD Options for Parents
Amniotic Membrane Repair: Options for High-Risk Pregnancy at 21 Weeks
Amniotic membrane repair surgery Dr. Chen! I would like to ask you, I am currently 21 weeks pregnant and experiencing high-level rupture of membranes. Can I undergo amniotic membrane repair surgery for treatment? My doctor says that I can only rely on bed rest for stabilization, ...
Dr. Chen Ming Reply:
First, stabilize the pregnancy for at least a week without any infection before discussing the next steps. God bless.[Read More] Amniotic Membrane Repair: Options for High-Risk Pregnancy at 21 Weeks
Diet and Exercise Guidelines for Managing Tourette Syndrome in Children
Diet and Exercise for Tourette Syndrome Hello, Doctor: I would like to ask the following two questions. 1. Regarding dietary considerations for Tourette syndrome, the doctor mentioned avoiding shellfish, nuts, chocolate, and caffeine, which seems to align with a low-copper diet...
Dr. Lin Guanglin Reply:
A. Dietary recommendations for children with Tourette syndrome include: 1. Avoiding foods and beverages that contain caffeine. 2. Increasing the intake of fruits and vegetables. 3. If tests reveal elevated levels of copper in the body, it is necessary to limit high-copper foods; ...[Read More] Diet and Exercise Guidelines for Managing Tourette Syndrome in Children
Do I Need a Blood Test for Chromosomal Abnormalities at 21 Weeks?
Following up on #125029, do I need to have a blood test to check for chromosomal abnormalities first? Following up on <a href="https://adoctor.tw/article/125029">#125029</a>, should I arrange for a blood test to check for chromosomal abnormalities and whethe...
Dr. Chen Ming Reply:
Yes, that will be better. God bless you.[Read More] Do I Need a Blood Test for Chromosomal Abnormalities at 21 Weeks?
Will My Child Inherit Genetic Issues from My Mother with Intellectual Disability?
If my child has the same genetic deletion as my mother (who has an intellectual disability), will my child have issues? I found that my second child has a DNA segment deletion in the 1p22.3 region, which is the same genetic deletion as my mother (who has intellectual disabilities...
Dr. Chen Ming Reply:
It seems that this segment cannot fully explain your mother's condition because you are doing well. You can come and discuss it after returning to the country.[Read More] Will My Child Inherit Genetic Issues from My Mother with Intellectual Disability?
Understanding the Impact of Chromosomal Translocation on Rare Diseases
Chromosomal translocation can have several potential effects, including: 1. **Genetic Disorders**: Translocations can disrupt normal gene function, leading to genetic disorders. For example, the Philadelphia chromosome, resulting from a translocation between chromosomes 9 and Th...
Dr. Chen Ming Reply:
The incidence of balance displacement syndrome is actually one in five hundred, which is not uncommon. You have done what you needed to do; now we just wait for the results. May God bless you.[Read More] Understanding the Impact of Chromosomal Translocation on Rare Diseases