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
Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Amniotic fluid chromosome 16p13.11 microdeletion (15048751_16249607) approximately 1.20MB? Hello, this amniotic fluid chip has confirmed a primary mutation. I would like to ask if there are any case numbers in Taiwan that can be referenced regarding the impact of this deletion on...
Dr. Jian Yingxiu Reply:
The 16p13.11 microdeletion is currently known to potentially cause developmental delays, learning disabilities, or epilepsy; however, there are also reports of asymptomatic cases. Therefore, it is not a condition with a 100% penetrance. Additionally, since the range and size of t...[Read More] Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
22q11.2 microdeletion syndrome Hello Dr. Jian, due to the newborn screening for Severe Combined Immunodeficiency (SCID), my child did not pass the first two tests, but the third test has shown normal values, and additional tests indicate that the immune function is within normal ...
Dr. Jian Yingxiu Reply:
22q11.2 deletion is known in the literature to be one of the causes of abnormal SCID screening results. Babies with this condition may have normal SCID screening values, slightly low values that normalize upon follow-up, or persistently abnormal values. If a 22q11.2 deletion has ...[Read More] Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
Understanding Rare Acidosis: What New Parents Need to Know
Rare acidosis Dear Dr. Lin, I am a new mother, and my baby was born on April 17 at the Hsin-Lou Hospital in Tainan. Our family is very anxious because the hospital has asked us to come back for a re-examination. Although we haven't gone for the re-examination yet, the hospi...
Dr. Lin Xiujuan Reply:
Hello: Due to the need to return to the original birth hospital for a re-examination of the blood sample, the value range is usually in the context of a false positive. The meaning of "false positive" in screening indicates that the concentration of certain metabolites ...[Read More] Understanding Rare Acidosis: What New Parents Need to Know
Understanding Propionic Acidemia: A Mother's Concerns and Testing Options
Propionic acidemia I have a two-month-old baby who was born on July 21. He has gas and a swollen belly; should we do further examinations? His newborn screening sent to National Taiwan University Hospital indicated propionic acidemia, and they asked us to do a second test. Since ...
Dr. Xu Shanjing Reply:
Ms. Hsiao-Yi, metabolic disorders can yield slightly different results depending on the severity, the child's age, and various conditions such as whether they have eaten or are ill. Screening results are typically categorized into three levels: suspicious positive (which may...[Read More] Understanding Propionic Acidemia: A Mother's Concerns and Testing Options
Understanding Tyrosinemia in Newborns: Treatment Options and Surgery
Tyrosinemia I would like to ask if there are any treatment options for newborns with tyrosinemia, and whether surgery is necessary for recovery.
Dr. Jian Yingxiu Reply:
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot specimens. If the concentration of any detected substance exceeds the...[Read More] Understanding Tyrosinemia in Newborns: Treatment Options and Surgery
Understanding Rare Metabolic Disorders in Infants: A Guide for Parents
Metabolic disorder in men? Hello, Dr. Jian. My baby has undergone tandem mass spectrometry analysis for metabolic disorders after birth, and the results indicate a suspected positive for argininemia, hyperammonemia/hyperornithinemia/homocitrullinuria (HHH). This is already the re...
Dr. Jian Yingxiu Reply:
The newborn screening method your baby underwent utilizes "Tandem Mass Spectrometry" to analyze the concentrations of various amino acids, organic acids, and fatty acid metabolites in dried blood spot samples. If the concentration of any detected substance exceeds the s...[Read More] Understanding Rare Metabolic Disorders in Infants: A Guide for Parents
Navigating Rare Disease: Insights on Methylmalonic Acidemia in Infants
Rare inquiry Hello Dr. Hou, my sister's child was diagnosed with methylmalonic acidemia during the newborn screening follow-up. However, the child had been drinking formula for three months before going to the hospital and has never shown any symptoms. The growth curve is in...
Dr. Hou Jiawei Reply:
In general, symptoms of vitamin B12 non-responsive methylmalonic acidemia (MMA) are relatively pronounced and severe. Even with dietary management, there may be residual effects. Further understanding is needed to determine whether it is a mild or transient form of MMA. Additiona...[Read More] Navigating Rare Disease: Insights on Methylmalonic Acidemia in Infants
Understanding Growth Delays: A Guide to Rare Diseases in Children
Failure to thrive? Hello Dr. Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm. She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consult...
Dr. Hou Jiawei Reply:
At 18 months of age, the child's growth parameters show a weight of 7.7 kg, height of 73 cm, and head circumference of 42 cm, indicating growth retardation and microcephaly. Additionally, there are concerns regarding delayed motor and language development, poor appetite, and...[Read More] Understanding Growth Delays: A Guide to Rare Diseases in Children
Understanding Propionic Acidemia: Follow-Up Testing and Positive Rates
Propionic acidemia The rate of positive results in confirmatory testing for suspected propionic acidemia in newborn screening is approximately 50%. Propionic acidemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is e...
Dr. Jian Yingxiu Reply:
For information on propionic acidemia, please refer to http://ntuh.mc.ntu.edu.tw/gene/genehelp/database/disease/Propionic_acidemia_940429.htm. A positive result in newborn screening does not necessarily indicate that the infant is affected by the disease. Please ensure to follow ...[Read More] Understanding Propionic Acidemia: Follow-Up Testing and Positive Rates
Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Regarding Citrullinemia Hello Doctor: Our baby tested positive in the newborn screening. The retest also came back positive. I would like to understand if this confirms that my child has this condition. Additionally, what symptoms are associated with this condition? Will it have ...
Dr. Lin Xuanpei Reply:
Which item in the newborn screening are you referring to? Is the physician responsible for explaining the results a specialist in Pediatric Genetics and Metabolism or Pediatric Endocrinology? If so, the parent should not be so confused. A positive result in newborn screening typi...[Read More] Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options