Down syndrome is a position in which a person appears with an additional chromosome or an additional portion of a chromosome. This position causes problems in development, thinking, learning, and physical well Bottom. syndrome tests helps to find this chromosomal abnormality in the fetus.
Chromosomes are small “packages” in cells that contain genes. Genes wear information, called DNA, that determines how you look and how your body works. You are usually born with a set of 46 chromosomes in every cell. Chromosomes are grouped in 23 pairs. Each pair contains two chromosomes. One for each guardian.
Most of the inverted syndrome every cell has an additional copy of chromosome 21. This common downward configuration syndrome is called trisomy 21. Trisomy” means that the cells actually have three copies of the chromosome instead of the usual two. It is the least common type of occurrence. syndrome , a person may have:
- An extra piece of chromosome 21 attached to another chromosome (downward translocation) syndrome )
- Additional chromosome 21 in some but not all cells (mosaic down) syndrome )
The extra chromosome affects how the baby’s brain and corpus callosum develop. Symptoms range from less serious to more difficult. Downward-facing babies. syndrome Usually have problems thinking and learning. They are more likely to begin speaking later than other babies.
Common physiological symptoms of Down’s syndrome include flat faces, crooked eyes, short necks, small arms and legs, poor muscle tone, and loose joints. Joint problems in childhood include hearing loss, sleep apnea, ear infections, eye problems, and heart defects.
There are two important types of tests It can help you syndrome during pregnancy:
- Prenatal screening tests Can indicate whether the possibility of fetal decline is greater or lesser syndrome . If a screening test Show that the baby has a chance to return. syndrome Is there another test to recognize the best probability. There are many types of screening tests for Down syndrome :
- Early pregnancy screening includes
- A blood test Testing blood for the presence of “markers.” This is a specific protein or other protein that is likely to put you at high risk for decline. syndrome
- Ultrasound scan to find fluid in the back of the baby’s neck. This can be a clear symptom of deterioration. syndrome
- Low risk of babies falling. syndrome
- Pregnancy with two or more children.
- Amniocentesis. This test takes the monster of amniotic fluid that surrounds the fetus in the uterus. The fluid contains the baby’s cells be tested . The test usually performed between 15 and 20 months of pregnancy.
- Chorionic Villi Reduction (CFS).CVS collects a piece of placental tissue called the chorionic flake. The placenta is an organ that increases in the uterus to provide calories and air to the baby. The cells of the chorioallantoic flakes generally have the same chromosomes as the fetus; CF can be created between 10 and 13 months of gestation.
- Percutaneous cord blood (puberty), also called cormocentesis. This test takes the baby’s blood monster from the umbilical cord. Puberty emphasizes a more truthful diagnosis syndrome pregnancy, but this is not usually used. This is because it involves more risks than other studies. tests And it can only be done during pregnancy, usually between 18 and 22 months.
What are the tests used for?
Down syndrome tests are used:
- during pregnancy in relation to the
- Evaluate the following fetal risks. syndrome .
- Check the diagnosis. syndrome in an unborn baby.
Why do I need a down syndrome test ?
You may need Down syndrome examination during pregnancy, in case you are at increased risk of a down baby family. syndrome You can increase your risk of Council if
- At the time of conception you were over 35 years of age You are at risk for a downed baby syndrome increases with age.
- You have a baby who has had a fall syndrome or will be diagnosed with a fall syndrome in a previous pregnancy.
- You have a home situation syndrome .
- Ultrasound of the fetus likely shows symptoms of downward spiral syndrome .
You may choose to be tested Even if you do not run the highest risk of the baby having a downward spiral syndrome A physician or genetic consultant can help you identify the pros and cons of testing.
What Happens During a Downward Spiral syndrome testing?
For a blood test The caregiver takes a blood sample from a vein in your arm with a small needle. After the needle is placed into a small amount of blood, the blood is placed into a a test tube or bottle. The needle is kept a little busy as it goes in and out. This usually takes less than 5 minutes.
For an ultrasound in early pregnancy, the doctor or gynecologist will wear a stomach ultrasound device. The ultrasound uses sound waves to take pictures of the fetus.
For amniotic fluid fluid, the caregiver brings a cavity into the uterus through the abdomen and takes monster amniotic fluid.
Using the flake test (CVS), the physician takes a tissue sample of the placenta and inserts a needle inserted through the abdomen or a tube inserted into the vagina.
For percutaneous blue poptide bleeding (Pubov), the physician brings a needle full from the belly of the umbilical cord into the uterus. A small amount of blood is drawn from the vein of the umbilical cord.
I have to arrange something to prepare the tests ?
Blood tests And the echo usually requires little or no preparation.
If you have CFS or amniocentesis, you may need to drink fluids that will help instead of peeing test your urethra to fill up.
If you have pubic hair test after 23 months of pregnancy, you need to fast (do not eat or drink) a few hours before your period. the test .
There are risks. the tests ?
Blood tests Also ultrasound is very little risk. Then blood test In the area where the needle is inserted there will be slight soreness and bruising, but most signs disappear quickly.
During amniotic fluid or CFS, a slight accumulation or cramping can be felt. Both tests safe, but there is a small risk of causing miscarriage.
Pills have a good chance of causing brief discomfort. This test slightly higher risk of no miscarriage than amniotic fluid or CFS. Talk to your own health care provider about the risks and benefits of a down test. syndrome .
What do the results mean?
Results from Down syndrome screening tests Indicate your personal risk of downing a baby syndrome :
- Positive Screening. test The result means your baby is likely to come down syndrome Above Average. Your test results will have every opportunity to fill in a number indicating how high your risk is. However, an increased risk does not mean that your chances of getting a baby are smaller. syndrome You can have a healthy baby with no chromosomal abnormalities or abnormalities.
- Negative/ Normal Screening test The result means that your baby has a small chance of collapsing syndrome . But a screening test Cannot guarantee that your baby is unlikely to refuse syndrome .
or your screening tests Normal can result in one or more diagnoses. tests . Diagnostic tests I can usually tell you if your baby will go down syndrome . But diagnostic tests I cannot predict how many downs syndrome well of your baby and will affect its potential.
You may need to speak with your genetic consultant before the test and again after you receive the results. Genetic advisors are specially trained to help you think about the risks and benefits of testing. They can also help you understand what your results mean. Then you can draw reasonable conclusions.
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- Early pregnancy screening includes
