What is down syndrome (trisomy 21)? What are the risks of having a down syndrome baby? How do I know if am at risk of having a down syndrome baby? How to prevent the chances of having a baby with birth defects such as trisomy 21? If these questions puzzles you, this article can be helpful by answering all your doubts.
What is Down Syndrome?
Down syndrome, which is referred to “trisomy 21”, is a genetic disorder characterised by having an extra copy of chromosome 21 in every cell. These chromosomes determine how the baby’s body forms during pregnancy and how its body functions as it grows in the womb and after birth. This extra copy causes both mental and physical difficulties for the baby, such as:
- Intellectual disability
- Speaking problems
- Low range of Intelligence
- delays in motor development
- Verbal Short Term memory
- impulsive behavior
- poor judgment
- short attention span
- slow learning capabilities
What are the risks of having Down syndrome baby?
There are several risks of having down syndrome baby. But these risks are not always definite to happen. These risks are as follows:
- If you are of age 35 and older. As you get older as the risk increases to have a baby with Down syndrome.
- If your family has a history of down syndrome
- If you carry a genetic translocation
- If you have an abnormal folate and methyl metabolism.(inability to efficiently metabolize vitamin B, Folic Acid)
What prevents the chances of having a Down syndrome baby?
- Folic Acid
Several studies showed the important role of folic acid for fetus health. As you get older as you need an extra amount of folic acid, before pregnancy. Because Folic acid deficiency as the time the pregnancy begins, may result in serious brain and birth damage as the fetus develops.
- Special diet for having an intelligent baby
There are certain foods that contain crucial vitamins and minerals that not only help you conceive but also help you get pregnant with a healthy baby.
- Genetic Counselor
Consult a genetic counselor before becoming pregnant, he or she can explain to you about the chances of having a child with Down syndrome.
- Prenatal Screening
Check the available prenatal tests that you will go through during pregnancy. But be careful of their pros or cons, because some might be risky for your fetus. Screening for Down syndrome is a routine part of prenatal care.
First Trimester screening
There are two types of tests, which can look for birth defects in your fetus, during the first trimester. The result of these two tests help the doctor detect Down syndrome (trisomy 21) and trisomy 18.
First Trimester blood test:
This test is performed between 10 and 13 weeks and measures the amount of two substances in your blood.
- Beta hCG (beta Human Chorionic Gonadotropin): if the amount of hCG is high, then this indicates probability of birth defects.
- Pregnancy Associated Plasma Protein A (PAPP-A): if the amount of PAPP-A is low, this indicates a probability of birth defects.
Nuchal Translucency Test:
This test is performed between 11 weeks and 14 weeks. It is done through the ultrasound that measures the thickness of the baby’s neck. If the thickness was more than normal, which is due to the accumulation of fluid at the back of the baby’s neck, it would be an early sign of Down syndrome.
Second Trimester Screening
Triple test or Quadruple Marker Screen (QMS) is a second blood test that is performed between 15 and 20 weeks to identify Down syndrome and other defects in the brain and spinal cord.
In case these tests failed to show the problem, your doctor might order several additional tests, such as
Chorionic villus sampling (CVS): This test can be performed between 9 and 14 weeks of pregnancy. Your doctor takes cells from your placenta to analyse fetal chromosomes. The risk of this test might be miscarriage, infection, or RH sensitization.
Amniocentesis: This test can be performed after 15 weeks of pregnancy. Where your doctor takes a sample of amniotic fluid surrounding the fetus to examine the number of chromosomes the baby has. The risk of this test might be miscarriage, leakage of amniotic fluid, infection, needle injury or RH sensitization.
Percutaneous Umbilical Blood Sampling (PUBS, or cordocentesis): This test can be performed after 18 weeks of pregnancy. Your doctor takes blood from the umbilical cord and examine it for chromosomal defects. The risks of this test might be fetal bleeding, cord hematoma, slowing the baby’s heart rate, infection, fetal-maternal bleeding or pregnancy loss.
Most women choose not to undergo these tests because of the multi of risks. Knowing that some of those women whose first trimester screening showed abnormality, delivered a normal baby.
Having a healthy baby is the most of any mother’s concern. Now you can lower the chances of having a baby with Down syndrome (trisomy 21) and other birth defects, by following the mentioned crucial steps. You should try to be aware of all the pregnancy worries before even getting pregnant. And this is because it falls for your benefit of your baby’s health and your safety.
Do you still have any other doubts?