COVID-19 (coronavirus): Our top priority is the safety of you and your baby. Read the latest NHS advice to find out what to do

What Conditions Are Screened For During a NIPT Test?

NIPT Test

Should You Have A NIPT Test?

The non-invasive prenatal test, or NIPT, is a screening test that can detect specific chromosomal abnormalities and other genetic conditions in a developing fetus. This test can be performed as early as ten weeks into a pregnancy, and it screens for conditions such as Down Syndrome, Edwards’ syndrome, or Patau’s syndrome.

You can book to have a NIPT test carried out here at Ultrasound Plus, you can either contact one of our sonographers or book an appointment online.

When can you get a NIPT test?

NIPTs are not diagnostic tests, but they provide more information about the baby’s chance of having these disorders. The accuracy of a NIPT depends on how far along you are in your pregnancy: the earlier, the better.

The first trimester is when most miscarriages occur, so there may not be enough fetal material to test if you have had one already. NIPT performed before week 10 of pregnancy is more likely to be accurate than later because, at this stage, DNA from the fetus is readily available.

Who can’t get a NIPT test?

Your midwife will inform you if there are any reasons why NIPT is not recommended. For example, if you’ve received a blood transfusion or have a condition related to chromosomes 21,18 or 13. Also, NIPTs is not recommended if you have an Rh-negative (negative) factor or Rhesus disease (positive) factor during pregnancy because blood could be mixed between mother and baby. 

What Can A NIPT Test Detect?

A NIPT is typically 99 per cent accurate in detecting chromosomal abnormalities such as Down Syndrome or Edwards’ syndrome. The screening, however, may not be able to differentiate between conditions that have similar effects on the baby. For example, a NIPT would indicate the baby has Patau’s syndrome but would not distinguish between the abnormalities caused by that genetic disorder and Edwards’ or Down syndrome.

The NIPT can only indicate the presence or absence of chromosomal conditions like – Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome)and Trisomy 13 (Patau Syndrome). It cannot measure the severity of these conditions.

Specifics on testing can depend on where you live, your lifestyle, and healthcare coverage. However, the test usually screens for Down syndrome (trisomy 21), spina bifida, cystic fibrosis, Tay-Sachs disease, some forms of muscular dystrophy, and sickle cell disease.

What result could I get?

There are three possible outcomes for your result: low-chance result, high-chance result, or no result. Let’s look at the three different results and what they mean. Information has been taken from nhsinform;

“A low-chance NIPT result means there’s only a very small chance your baby will have one of the conditions:

  • 1 in 1054 women with a low-chance NIPT result will have a baby with Down’s syndrome
  • 1 in 930 women with a low-chance NIPT result will have a baby with Edwards’ syndrome
  • 1 in 4265 women with a low-chance NIPT result will have a baby with Patau’s syndrome.”

High-chance result, If you get a high-chance NIPT result, it doesn’t mean your baby has Down’s syndrome, Edwards’ syndrome or Patau’s syndrome, but it’s very likely. You’ll be offered diagnostic testing, which can tell you for definite. Whatever you choose, healthcare professionals will give you information and support.

NIPT can sometimes give no result if there’s not enough DNA in the blood sample or if there’s been a technical issue with the testing. If you don’t get a result, you can either have a repeat NIPT, go straight to diagnostic testing, or have no further tests.

If you get a high-chance result that your baby has one of the conditions, this can be confirmed by further testing your baby. Those with high-change results have the following likely hood of each condition:

  • 91 times out of 100 for Down’s syndrome
  • , 84 times out of 100 for Edwards’ syndrome
  • 87 times out of 100 for Patau’s syndrome.

What is Down’s Syndrome?

Down syndrome is a genetic disorder that causes intellectual disabilities, physical disabilities, and health problems. An extra copy of chromosome 21 causes this condition. Individuals with Down syndrome typically have a lower IQ, poor vision and hearing, and health problems such as heart defects and diabetes. Down syndrome can also cause problems with speech, movement, and digestion.

What is Edward’s Syndrome?

Edwards Syndrome is a chromosomal disorder that occurs in about 1 in 4,500 births. An extra copy of chromosome 18 causes this condition. Symptoms of Edwards Syndrome can include low birth weight, heart defects, developmental delays, and problems with the kidneys and digestive system. Edwards Syndrome is often fatal within the first year of life.

What is Patau’s Syndrome?

Pataus Syndrome is a rare genetic disorder that occurs in about 1 in 5,000 births. An extra copy of chromosome 13 causes this condition. Symptoms of Patau’s Syndrome can include developmental delays, heart defects, and problems with the kidneys and digestive system. Most children with this syndrome do not live past their first year of life.

Still Unsure If You Should Have A NIPT Test?

NIPT is a screening test that can detect specific chromosomal abnormalities and other genetic conditions in a developing fetus. This test screens for Down Syndrome, Edwards’ syndrome, or Patau’s syndrome. If you get a high-chance NIPT result, it doesn’t mean your baby definitely has these conditions, but very likely. You’ll receive information from your healthcare professionals on what next steps are best for you and your family.

More To Explore