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 the fetus? The mention of an expressivity rate of 13.1%—is that considered high? If the condition relies on early intervention and rehabilitation, what percentage of improvement can be expected? Additionally, what newborn screenings are necessary after birth? Thank you.
Yu, 30~39 year old female. Ask Date: 2020/08/08
Dr. Jian Yingxiu reply Rare Disease
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 the deletions vary among individuals, even if the deletion patterns are identical, the level of care and support for learning provided by each family can differ.
It is recommended to discuss this with your physician or to bring the report to a genetic counseling clinic at a medical center for further consultation with your partner.
Reply Date: 2020/08/08
More Info
The deletion of chromosome 16p13.11 is a genetic alteration that has been associated with various developmental and health issues in affected individuals. This specific deletion can lead to a range of phenotypic outcomes, including developmental delays, intellectual disabilities, and increased susceptibility to certain psychiatric disorders. The impact of this deletion on fetal development can vary significantly depending on the size of the deletion, the genes involved, and whether the deletion is inherited or de novo (newly occurring).
In terms of prevalence, studies suggest that the 16p13.11 deletion occurs in approximately 1 in 1,000 individuals in the general population, but its clinical significance can vary. The penetrance, or the likelihood that individuals with the deletion will exhibit symptoms, is reported to be around 13.1%. This means that while a significant number of individuals with this deletion may not show any clinical symptoms, there is still a notable risk for developmental issues.
Regarding early intervention, research indicates that early therapeutic interventions, such as physical therapy, occupational therapy, and speech therapy, can significantly improve developmental outcomes for children with genetic deletions. The extent of improvement varies from child to child, but early intervention is generally associated with better long-term outcomes. It is crucial to have a tailored intervention plan based on the child's specific needs and developmental profile.
After birth, newborn screening is essential to identify any potential health issues early on. In Taiwan, the standard newborn screening program typically includes tests for metabolic disorders, congenital hypothyroidism, and hemoglobinopathies. Given the specific deletion on chromosome 16p13.11, it may also be advisable to conduct additional genetic counseling and testing to monitor for any associated conditions that could arise from this deletion.
Parents should consider consulting with a genetic counselor or a specialist in genetics to discuss the implications of the deletion, potential health risks, and the appropriate follow-up care for their child. Genetic counseling can provide valuable insights into the likelihood of recurrence in future pregnancies, the need for further testing, and the available support resources.
In summary, the impact of the 16p13.11 deletion on fetal development can be significant, but the degree of impact varies. Early intervention can improve outcomes, and newborn screening is crucial for identifying any potential health issues. Parents are encouraged to seek genetic counseling for personalized guidance and support.
Similar Q&A
Understanding 16p 13.11 Deletion: Implications for Rare Genetic Disorders
At 8 months into the pregnancy, due to certain reasons, an amniocentesis was performed, which revealed a 0.64mb deletion at 16p13.11. Both parents' blood tests showed no issues. I have searched some literature and would like to ask the physician for recommendations regarding...
Dr. Jian Yingxiu reply Rare Disease
Please bring the relevant reports to the genetic counseling clinic for your appointment.[Read More] Understanding 16p 13.11 Deletion: Implications for Rare Genetic Disorders
Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
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 hereditary, but the mother is...
Dr. Chen Ming reply Rare Disease
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 16p13.3 Microduplication: Implications for Fetal Health
Hello Doctor, I am a 30-year-old first-time mother who is 20 weeks pregnant. I have Graves' disease, which is well-controlled with medication. I have had intermittent mild microcytic anemia in the past, and my doctor has suspected either thalassemia or iron deficiency anemia...
Dr. Jian Yingxiu reply Rare Disease
Hello: Anticipating new life yet encountering such uncertainty can indeed be unsettling. It seems you have already gathered all the information, but due to incomplete penetrance, even if one parent has similar chromosomal variations, there is still a chance that the baby may expe...[Read More] Understanding 16p13.3 Microduplication: Implications for Fetal Health
Understanding the Implications of 7q34-36.3 Chromosome Deletion in Pregnancy
Hello, doctor. I am currently 21 weeks pregnant. I have undergone two NIPT blood tests, which indicated a 20mb deletion at chromosome 7q34-36.3. I am now waiting for the results of the aCGH microarray analysis. I would like to ask: (1) What potential conditions could arise from t...
Dr. Chen Ming reply Rare Disease
The peace of mind comes from the fact that this is a highly complex and difficult test. We must wait for the results of the ACGH chip before we can explain everything in person. God bless![Read More] Understanding the Implications of 7q34-36.3 Chromosome Deletion in Pregnancy
Related FAQ
Newborn Screening
(Rare Disease)
Chromosomes(Rare Disease)
Whole Exome Sequencing(Rare Disease)
Congenital Metabolic Disorders(Rare Disease)
G6Pd Deficiency(Rare Disease)
Osteogenesis Imperfecta(Rare Disease)
Down Syndrome(Obstetrics and Gynecology)
Height(Rare Disease)
Ichthyosis(Rare Disease)
Chromosomes(Family Medicine)