FISH for DiGeorge Syndrome (Microdeletion 22q) - Amniotic Fluid
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. This deletion can result in the poor development of several body systems. FISH, or Fluorescence In Situ Hybridization, for DiGeorge Syndrome is a diagnostic test used to detect microdeletion in chromosome 22q11.2 in amniotic fluid. This test is usually done during pregnancy to determine whether the fetus has DiGeorge Syndrome.
When a fetus is suspected of having DiGeorge Syndrome, either due to family history, abnormal ultrasound findings, or other factors, a FISH test can be performed on a sample of amniotic fluid. This fluid surrounds the fetus in the womb and contains fetal cells that can be analyzed for chromosomal abnormalities.
Test NameFISH for DiGeorge Syndrome (Microdeletion 22q) - Amniotic Fluid
Sample TypeAmniotic Fluid
Preparations RequiredThis test is performed on amniotic fluid, which is collected through a procedure called amniocentesis. The patient should follow the doctor's instructions regarding any special preparation for the amniocentesis procedure.
Report Time15 days
What is DiGeorge Syndrome?
DiGeorge Syndrome is a genetic disorder caused by a deletion in chromosome 22. It affects the development of several body systems and can cause heart defects, poor immune system function, a cleft palate, and developmental delays.
How is the FISH test for DiGeorge Syndrome performed?
This test is performed using a sample of amniotic fluid obtained through amniocentesis. The sample is then analyzed in the laboratory using fluorescent probes that bind to the specific region of chromosome 22. If the region is missing, it indicates that the fetus has DiGeorge Syndrome.
Home Sample Collection Process
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Book your convenient slot
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Sample Collection by Phlebotomist
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Reporting of the sample at lab
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Frequently Asked Questions
Amniocentesis is considered to be a safe procedure but does carry some risks including infection, leaking of amniotic fluid, and miscarriage. It is important to discuss the risks and benefits with your doctor.
During amniocentesis, a thin needle is inserted through the abdomen into the uterus to collect amniotic fluid. The procedure is usually performed under ultrasound guidance and may cause mild discomfort.
If the FISH test detects the deletion in chromosome 22, it means that the fetus has DiGeorge Syndrome. This information can be used to prepare for necessary interventions or care after birth.
There is no cure for DiGeorge Syndrome, but various treatments and interventions can address the symptoms. These include surgery for heart defects, therapies for developmental delays, and medications for immune system problems.
You should consult a genetic counselor for more information on DiGeorge Syndrome, and you may also need to see specialists such as a cardiologist, immunologist, and a developmental pediatrician.
In some cases, DiGeorge Syndrome is inherited from a parent. However, it can also occur spontaneously without a family history of the condition.
The outlook for individuals with DiGeorge Syndrome varies widely. Some individuals may have mild symptoms and lead relatively normal lives, while others may have severe complications.
Yes, DiGeorge Syndrome can be detected before birth through tests like FISH on amniotic fluid.
There is no known way to prevent DiGeorge Syndrome as it is a genetic condition.
It is important to discuss your options with a genetic counselor and your doctor. Some families choose to continue the pregnancy with plans for intervention after birth, while others may consider other options.
No, DiGeorge Syndrome is a genetic condition and cannot be prevented by lifestyle changes or medications during pregnancy.
Common signs and symptoms include heart defects, cleft palate, weak immune system, feeding problems, developmental delays, and distinct facial features.
Prenatal testing for DiGeorge Syndrome is not recommended for all pregnant women but may be suggested if there is a family history, abnormal ultrasound findings, or other risk factors.
FISH for DiGeorge Syndrome in amniotic fluid is an essential prenatal test for detecting DiGeorge Syndrome. While the syndrome cannot be prevented, early diagnosis can assist in planning for the necessary interventions and care for the child after birth. It's vital to communicate and discuss the available options with your doctor and a genetic counselor if DiGeorge Syndrome is detected in your fetus.
FISH for DiGeorge Syndrome (Microdeletion 22q) - amniotic fluid
