Important Tests during pregnancy help check the baby's growth and health, as well as the mother's well-being.
Screening for Down Syndrome: Pregnant ladies must perform some of the major screenings during the first and second trimesters of pregnancy to determine if the baby has any risk factors.
Down Syndrome Screen test is among those to be tested in the pregnancy’s first and second trimesters. Want to know more about Down Syndrome or Trisomy 21 Screening Tests?
Why don’t you continue reading our Screening for Down Syndrome article as it covers everything about Down syndrome including how it is performed, why it is done, how to diagnose, and how much it costs?
Let’s dive in!
- What Is Down Syndrome?
- What is the Down Syndrome Screening?
- Why Should We Do Down Syndrome Screen Test?
- How To Prepare For The Down Syndrome Pregnancy Test?
- What Tests Are Done for Down Syndrome Screening?
- Combined First Trimester Screening
- Non-invasive Prenatal Testing (NIPT)
- Second Trimester Serum Screening or Triple Screen Test
- How Down Syndrome Gets Diagnosed?
- How Much Does Down Syndrome Screening Costs?
- FAQs on Down Syndrome Pregnancy Screenings & Tests
What Is Down Syndrome?
Down Syndrome is a common genetic condition that transforms the baby during pregnancy if not detected at the right time. This health condition can cause mild to moderate intellectual disability in babies.
Down syndrome-affected people seem different from others and suffer from a lot of unknown or unexpected health problems.
Generally, people hold 23 pairs of chromosomes in every cell in their body but people with Down syndrome hold additionally chromosome 21. Hence, it is called Trisomy 21.
Learn About: Alpha Feto Protein Test (AFP) In Pregnancy
What is the Down Syndrome Screening?
Doctors or midwives suggest performing various antenatal tests during pregnancy to understand fetal development and the baby’s health.
One of the routine tests during pregnancy is Screening for Down Syndrome. Screening tests are the best to determine the probability of your baby being born with a chromosomal health condition like Down syndrome.
The screening tests for Down syndrome include blood tests and ultrasound scans. These tests and scans are useful to identify the risk of any genetic abnormalities in the baby’s growth but cannot diagnose Down syndrome.
Why Should We Do Down Syndrome Screen Test?
The main purpose of offering Down syndrome screening is to find out the possibility of genetic or chromosomal conditions in the child at the early stage.
Performing the Down syndrome screening at the early pregnancy phase can be beneficial for figuring out the treatment process.
This kind of prenatal screening during the first trimester of pregnancy can help you decide on the following statements:
- Considering how to plan the baby care
- Holding additional monitoring during pregnancy
- Deciding to terminate the pregnancy
Finding Down syndrome or other chromosomal abnormalities earlier is important. It can help you and your doctor to closely monitor your baby for any potential issues and take action promptly if necessary.
Go Through: Pre-Pregnancy Tests for Female
How To Prepare For The Down Syndrome Test Pregnancy?
Before preparing for Down syndrome screening during pregnancy just talk about the options with your doctors, genetic experts, or counselor.
Follow their suggestions and instructions before and during the Down syndrome pregnancy tests. Take your family or friends to accompany you and make the right decisions.
Ask a midwife or doctor about whether fasting is required for Down syndrome screening ultrasound or blood tests. Also, make sure to choose comfortable attire for the scans. Recheck all the required things before arriving at the Down syndrome test.
What Tests Are Done for Down Syndrome Screening?
Let’s discuss how screening for Down Syndrome is done explicitly in this section. The Down syndrome results can be found by performing many approaches. However, the three common ways to have screening for Down syndrome are:
- Combined First Trimester Screening
- Non-invasive Prenatal Testing
- Second Trimester Serum Screening
Combined First Trimester Screening
During early pregnancy weeks or the first trimester of pregnancy, doctors mainly suggest the most common method to screen for Down syndrome ie., combined screening. The combined screen involves tests like:
- Blood test between weeks 10 and 13 to measure levels of pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (free β-hCG).
- A Nuchal translucency ultrasound scan/ NT Ultrasound Scan between weeks 11 and 14.
These Down syndrome screening blood test results reveal the chances of your baby having Down syndrome. Moreover, factors like the mother’s age and weight estimate the risk of the baby having Down syndrome.
The First Trimester Combined Screen (FTCS) can detect about 85% to 90% of babies with Down syndrome.
Non-invasive Prenatal Testing (NIPT)
NIPT (Noninvasive Prenatal Testing) is a blood test where healthcare providers analyze the blood sample to evaluate the risk of Down syndrome, Edward syndrome, and Patau syndrome.
NIPT is a screening test, not a diagnostic test. This test is suggested to be performed before week 10 of pregnancy. If it displays low-risk results then it’s highly unlikely (less than or equal to 0.1% chance) that your baby has these disorders. The NIPT high-risk results mean further invasive testing may be recommended.
This Non-Invasive Prenatal Testing (NIPT) is advised for high-risk individuals such as women aged 35 years and older, those exhibiting abnormal ultrasound results, people with a personal or family history of aneuploidy, and those with abnormal Combined First Trimester Screening (CFTS) or triple test results.
Do Check: First Trimester Screening
Second Trimester Serum Screening or Triple Screen Test
Second-trimester screening tests like triple test, quad screen test, and other multiple maternal serum tests are helpful to estimate the risk of Down Syndrome, Edward syndrome, Patau syndrome, and also neural tube defects (e.g. spina bifida) at 15 to 20 weeks gestation.
Triple marker tests and other marker screenings declare the levels of hormones in the mother’s blood and result in the possibility of upto 75% of having Down syndrome in babies.
Learn About: Second Trimester Screening
How Down Syndrome Gets Diagnosed?
If your Down syndrome screen results are positive, the doctor offers a diagnostic test for further treatment. Before considering the Down syndrome diagnosis tests, discuss every point right from benefits to risks with expert doctors.
The prenatal diagnostic testing for Down syndrome includes Chorionic Villus Sampling (CVS), Percutaneous umbilical blood sampling (PUBS), and Amniocentesis Test.
In some cases, it has a slight risk of miscarriage but in good terms, it will accurately show whether your baby has Down’s syndrome, Edwards’ syndrome, or Patau’s syndrome or not.
How Much Does Down Syndrome Screening Costs?
The cost of Down syndrome testing like NIPT ranges between $400 to $700 approx. The Down syndrome screening tests are different from one another as they include both ultrasound scans and blood tests. So, check with your doctor about the proper price of trisomy 21 screening and proceed with the next steps.
FAQs on Down Syndrome Pregnancy Screenings & Tests
1. How accurate is the blood test for Down syndrome?
A blood test like NIPT(Non-invasive Prenatal Testing) is 99% accurate for Down syndrome screening.
2. Can a blood test tell if your baby has Down syndrome?
Down syndrome blood test results explained whether your baby has Down syndrome or not. You can see the Down syndrome screening blood test results as positive or negative.
3. What does Down syndrome screen positive mean?
The positive screening result for Down syndrome means having a trisomy 21 or trisomy 18 which affects babies with some chromosome differences or abnormalities.
4. What does Down syndrome screen negative mean?
Down Syndrome Screening Negative means a baby with no Down syndrome or other chromosomal defects or disorders. The negative screen result doesn’t recommend any diagnostic test.
5. How to treat babies with Down syndrome condition?
The treatment for a child with Down syndrome condition is to be very supportive care and a mix of therapies to provide a quality of life.
6. What time is best for screening Down syndrome?
The blood test with an NT scan for screening Down syndrome can be done between the 11th week and 14th week of pregnancy. Also, the only blood test screening for Down syndrome can be performed between 14 and 20 weeks pregnant.