Amniotic Fluid Chip Testing for DMD: What You Need to Know
Amniotic fluid chip testing Hello Doctor, I would like to ask if amniotic fluid chip testing can detect Duchenne Muscular Dystrophy (DMD)? I found information online stating that this condition only occurs in males, as females have two X chromosomes that can compensate for each o...
Dr. Jian Yingxiu Reply:
Hello: I apologize for causing you concern. This question can be answered in two parts: 1. Can amniotic fluid chips detect DMD? Answer: Currently, the amniotic fluid chips available on the market that claim to detect DMD are likely only able to identify certain types of DMD. Th...[Read More] Amniotic Fluid Chip Testing for DMD: What You Need to Know
Understanding Chromosomal Abnormalities 13 and 14: Implications for Your Child's Health
Abnormalities of chromosomes 13 and 14? Hello Dr. Chen: My amniocentesis report shows a result of 45.xx.der(13;14)(q10;q10), indicating that one of the chromosomes from chromosome 14 has attached to chromosome 13. I would like to ask if this means my child is healthy? Do you reco...
Dr. Chen Ming Reply:
In principle, it is balanced and there are no major issues. However, it is advisable for both partners to undergo chromosomal testing and consider amniocentesis with chromosomal microarray analysis. Please come to the clinic for further discussion.[Read More] Understanding Chromosomal Abnormalities 13 and 14: Implications for Your Child's Health
Understanding Chromosome 9 Inversions: Genetic Testing and Implications
Chromosome 9 inversion - continuation Dr. Chen: Thank you for your very helpful response. I would like to ask if you recommend that my parents undergo blood tests to determine if there is a hereditary factor or a mutation in the baby? Additionally, do individuals with such chromo...
Dr. Chen Ming Reply:
Since the issue is not significant, please closely discuss it with your original obstetrician.[Read More] Understanding Chromosome 9 Inversions: Genetic Testing and Implications
Understanding De Novo Reciprocal Translocation: Implications for Fetal Health
46,XY,t(3;6)(p25;p25) de novo Interpretation: Chromosome analysis of 21 cells cultured from amniotic fluid showed a male karyotype with a reciprocal translocation between chromosome 3 and chromosome 6. The breakpoints were identified at 3p25 and 6p25. The translocation appeared t...
Dr. Jian Yingxiu Reply:
Hello: According to the text, the karyotype analysis did not show any significant increase or decrease in chromosomes. However, since there are chromosomal variations, literature reports suggest there may be a 6-7% chance of associated abnormalities. May I ask what the current ge...[Read More] Understanding De Novo Reciprocal Translocation: Implications for Fetal Health
Managing Fetal Kidney Cysts: What Parents Need to Know
What should be done if there are cysts in the fetal kidneys? Hello Dr. Chen, I was referred to you as an expert in fetal treatment. Due to work commitments, I haven't been able to schedule an appointment with you, but I am concerned about my child and would like to ask you...
Dr. Chen Ming Reply:
This is a relatively common condition, especially in older mothers who should have undergone amniocentesis. If the chromosomes are normal and there is unilateral hydronephrosis or pathology, as long as the other kidney is healthy, my opinion is that it is possible to continue the...[Read More] Managing Fetal Kidney Cysts: What Parents Need to Know
Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options
Congenital Adrenal Hyperplasia Thank you, Dr. Hou, for your previous response. I have the following questions: 1. The physician at National Taiwan University informed me that the genes and chromosomes are normal. If this condition is caused by genetic and chromosomal factors, sho...
Dr. Hou Jiawei Reply:
1. This disease typically has normal chromosomes and is caused by single-gene abnormalities, with more common (to be tested first) and less common (testing for corresponding genes after the more common ones are found to be normal) genetic variations. 2. Sometimes, blood tests for...[Read More] Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options
Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Genetic counseling for carnitine deficiency? Hello, during my first pregnancy, I terminated the pregnancy after the prenatal checkup revealed that the baby had a cleft lip. In my second pregnancy, the baby's chromosomal analysis showed 46,XX,t(4;14)(q33;32.3) with the mother...
Dr. Lin Xuanpei Reply:
Carnitine deficiency can be broadly categorized into two main types: secondary and primary. Secondary carnitine deficiency primarily results from inadequate dietary intake or excessive consumption due to certain specific diseases, leading to a decrease in serum carnitine levels. ...[Read More] Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
Regarding Cat Cry Syndrome? Because I have observed several characteristics of Cri du Chat syndrome in my baby, such as a weak cry, low birth weight, poor sucking reflex, developmental delays, a flat nasal bridge, a short neck, and a simian line. However, you mentioned that this ...
Dr. Zhu Shaoying Reply:
Concerned Mother: It appears that your child does indeed have some issues, as you mentioned, including a weak cry, low birth weight, poor sucking ability, developmental delays, a flat nasal bridge, a short neck, and simian lines. We are unsure why you underwent early chorionic vi...[Read More] Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
Navigating Life with an Unnamed Rare Disease: A Family's Journey
Illnesses without a specific diagnosis? Hello Doctor, I would like to ask you a question. My nephew was born in 2003. When he was 2 to 3 months old, we noticed some abnormalities, and my sister took him to the hospital for examination. The result showed that he has an extra half ...
Dr. Jian Yingxiu Reply:
Your condition is classified as a chromosomal abnormality disease, which primarily affects the brain, heart, gastrointestinal tract, or other internal organs. The specifics depend on whether there are any deficiencies in the chromosomal genetic material and whether the connection...[Read More] Navigating Life with an Unnamed Rare Disease: A Family's Journey
Navigating Down Syndrome Diagnosis: Seeking Guidance for New Parents
Please help me? I gave birth to a baby boy at a well-known hospital in the northern part of Taiwan in October. The attending physician indicated that there is a possibility of Down syndrome based on clinical observation and recommended chromosome screening. The results came back ...
Dr. Lin Xuanpei Reply:
Chromosomal testing techniques have reached a mature stage, and if the results indicate abnormalities in the 21st pair of chromosomes, it is consistent with a diagnosis of Down syndrome. It is essential to clarify whether it is the most common form, "Trisomy 21" (for ex...[Read More] Navigating Down Syndrome Diagnosis: Seeking Guidance for New Parents