What Is a Nuchal Translucency (NT) Scan for Down Syndrome? (2024)

If you’re pregnant, your doctor might have mentioned an NT scan or first-trimester screening. An NT scan is a simple test that shows your baby’s risk for some genetic conditions.

What Is an NT Scan for Down Syndrome?

An NT scan, or nuchal translucency scan, is a non-invasive ultrasound screening for Down syndrome and other genetic conditions during pregnancy. It’s usually done between weeks 11 and 14 of pregnancy.

Some people also have blood tests done at the same time that look for certain hormones and proteins, including:

  • Free beta-human chorionic gonadotropin, or b-hCG
  • Pregnancy-associated plasma protein-A, or PAPP-A
  • Alpha-fetoprotein, or AFP

All pregnant people have these hormones and proteins, but the levels can be higher or lower than average when the baby has Down syndrome or other disorders. These screenings together are called the combined or integrated first-trimester screening.

What Does an NT Scan Check For?

All unborn babies have a skin fold, called a nuchal fold, at the back of the neck that holds fluid. Babies with certain genetic conditions have more fluid than normal, and the nuchal fold is thicker.

An NT scan measures this fold to check for the risk of genetic conditions like:

Down syndrome. Down syndrome, or trisomy 21, is a genetic disorder where babies have an extra 21st chromosome. Chromosomes are packages of genes that tell the body how to grow. An extra chromosome changes how the brain and body develop and can cause intellectual and physical disability, birth defects, and health problems.

Trisomy 13 and 18.Trisomy 13 and trisomy 18 happen when babies have an extra copy of either chromosome 13 or chromosome 18, respectively. These genetic disorders cause serious birth defects and intellectual disability, often leading to early death.

Turner syndrome. A baby with Turner syndrome is missing all of or part of the X chromosome. This only affects babies with X chromosomes and can cause growth problems and heart and ovary defects at birth.

Congenital heart disease.Babies with congenital heart disease are born with heart defects that change how blood flows through the heart. Some defects are life-threatening, and some don’t cause any problems.

An NT scan doesn’t diagnose or confirm any of these disorders, though. Instead, it tells you whether your baby has a higher risk of having one of these conditions.

Since an NT scan is an ultrasound, your doctor might also check for other things, including:

  • How your baby is growing
  • How many babies you’re carrying
  • Whether multiple babies share a placenta
  • Exactly how far along you are in your pregnancy

What Happens at a Nuchal Translucency Scan?

An NT scan is a routine ultrasound. You need to have a full bladder, so the ultrasound technician will ask you to drink 2 to 3 glasses of water an hour before the scan. You can’t urinate before the test, so you might feel full and uncomfortable.

During the test, you'll lay down on a table and the technician will put gel on your lower belly. They'll move a wand across your abdomen and take some pictures. Once they have the pictures, your scan will be done, and you can go back to your regular activities. A radiologist will read the scans and send the results to your doctor.

What Are the Risks of an NT Scan?

There are no known risks for an NT scan. Ultrasounds are safe and non-invasive, and you can’t feel the ultrasound waves. You might feel some pressure as the technician moves the wand around your belly. This is normal and helps get the best view of your baby.

Is an NT Scan Necessary?

NT scans are optional. You have the option of getting this test early in your pregnancy, which will give you results early on. Early results can help you plan for the possibility of caring for a child with disabilities.

You can also decline this test. If you think it would cause too much stress, or if it won’t change how you manage your pregnancy or plan for your child, you might decide against it.

What Do Your NT Scan Results Mean?

The skin fold grows as unborn babies grow, so the test measures the thickness of the skin fold and compares it to babies of the same age in the womb. If the measurement is higher than the average measurement, then the risk for some genetic conditions is higher.

What is the NT scan normal range?At 11 weeks, the skin fold measures up to 2 mm. At 13 weeks and 6 days, it can be up to 2.8 mm. If your baby’s measurements are within this range, they have a low chance of having Down syndrome or other genetic disorders.

What is an abnormal NT scan measurement? An abnormal measurement is when the skin fold measure is larger than the normal range of up to 2 mm at 11 weeks or 2.8 mm at 13 weeks 6 days.

Your doctor will consider the measurements along with your age and your blood tests. While testing only shows the chances of having a condition, an NT scan with bloodwork can correctly predict genetic conditions in 85% of cases. About 5% of test results are false positives, which means they incorrectly suggest a higher chance.

What Happens if an NT Scan Is Abnormal?

If your NT scan has abnormal measurements, your doctor might suggest more testing. These tests can include:

  • Chorionic villus sampling, where they test a tiny piece of the placenta
  • Amniocentesis, where they test a small amount of amniotic fluid from your uterus
  • Prenatal cell-free DNA (cfDNA) screening, where they take some of your blood and look at your baby’s DNA

These tests do have a risk of causing pregnancy loss, so your doctor will go over the risks and benefits for your situation. If you decide to have the test, your doctor will discuss your results with you and help you understand what they mean.

The Takeaway

An NT scan is a safe and routine — but optional — ultrasound scan that can help predict the chances of your baby having Down syndrome. It’s sometimes done along with bloodwork in your first trimester.

What Is a Nuchal Translucency (NT) Scan for Down Syndrome? (2024)

FAQs

What Is a Nuchal Translucency (NT) Scan for Down Syndrome? ›

The nuchal translucency test measures the nuchal fold thickness. This is an area of tissue at the back of an unborn baby's neck. Measuring this thickness helps assess the risk for Down syndrome and other genetic problems in the baby.

What is a normal nuchal translucency for Down syndrome? ›

What is the NT scan normal range? At 11 weeks, the skin fold measures up to 2 mm. At 13 weeks and 6 days, it can be up to 2.8 mm. If your baby's measurements are within this range, they have a low chance of having Down syndrome or other genetic disorders.

How accurate is the nuchal translucency test for Down syndrome? ›

NT screenings alone can detect about 70% of trisomy 21, or Down syndrome cases. Many healthcare providers combine a normal NT ultrasound with blood screenings. The accuracy of predicting conditions increases to about 95% when combined with first-trimester blood tests.

What is the normal nuchal translucency measurement at 12 weeks? ›

If the fetus is 12 weeks old, the fetal ultrasound measuring nuchal translucency will usually be as small as 2.5mm. If the fetus is 13 weeks old, the fetal ultrasound measuring the nuchal translucency will usually be less than 2.8mm.

What happens if you test positive for Down syndrome? ›

If the test is screen positive, you will be offered a diagnostic test, usually chorionic villus sampling (CVS) or possibly an amniocentesis. The diagnostic test will determine whether or not the pregnancy is actually affected. CVS is offered early in pregnancy (usually between 10 and 13 weeks).

What is a good Down's syndrome result? ›

If the results show a risk of 1 in 151 or more, this is classified as a lower-chance result. For example, 1 in 300 would be a lower chance result. A lower-chance result does not mean there's no chance at all of the baby having Down's syndrome, Edwards' syndrome or Patau's syndrome.

Does a thick nuchal fold mean Down syndrome? ›

Your health care provider uses abdominal ultrasound or a vagin*l ultrasound to measure the nuchal fold. All unborn babies have some fluid at the back of their neck. In a baby with Down syndrome or other genetic disorders, there is more fluid than normal. This makes the space look thicker.

Should I worry about nuchal translucency screening? ›

An abnormal result on the nuchal translucency or combined screening test doesn't mean that your baby necessarily has a chromosomal abnormality. They just mean that there's a statistical likelihood of having a problem. That's why your doctor will suggest follow-up diagnostic testing. Try not to overthink your results.

What genetic disorder can be revealed by nuchal translucency testing? ›

Fetuses with increased NT are associated with a higher incidence of aneuploidy, fetal death, structural malformations, as well as more than 150 genetic syndromes like Noonan syndrome, achondrogenesis type II, and Smith-Lemli-Opitz Syndrome, etc.

Can you always see Down syndrome on ultrasound? ›

Sensitivity for detecting Down Syndrome is increased when ultrasound findings are interpreted in combination with serum analyte screening tests such as first and second trimester screening and integrated and sequential screening. Cell-free DNA has a detection rate for Down Syndrome of 99%.

What are the signs of Down syndrome on a 12 week ultrasound? ›

Babies with Down's syndrome are more likely to have a small or absent nose bone, with a flat profile. They often have leakage across the tricuspid valve and reverse flow in the ductus venosus. So adding in these additional markers will take the average detection rate of the standard technique of 80% up to 95%.

What is a good nuchal result? ›

The cut-off for the nuchal translucency measurement is 3.5 mm. If your measurement is less than 3.5 mm, this is considered "normal". If your measurement is 3.5 mm or more, this is considered "increased". The ultrasound also looks at the baby's body parts, like the heart and the brain.

Can a baby with high NT be normal? ›

Fetuses with a nuchal translucency index lower than 1.3mm have a very low risk of Down syndrome. Nuchal translucency lower than 2.5mm is considered a safe range. When the nuchal translucency is high from 2.5mm to 6mm, doctors need to add the results of other indicators to draw conclusions.

What makes you high risk for Down's syndrome baby? ›

These factors include geographic region, maternal education, marital status, and Hispanic ethnicity. Because the likelihood that an egg will contain an extra copy of chromosome 21 increases significantly as a woman ages, older women are much more likely than younger women to give birth to an infant with Down syndrome.

How to avoid Down syndrome during pregnancy? ›

For example – quitting smoking can improve the likelihood of a mother giving birth to a healthy baby and avoiding certain birth defects, such as Down syndrome. Turn to a healthy lifestyle – The health of the mother during pregnancy directly affects the health of the unborn child.

What are the odds of having a Down syndrome baby? ›

The risk increases with the mother's age (1 in 1250 for a 25 year old mother to 1 in 1000 at age 31, 1 in 400 at age 35, and about 1 in 100 at age 40). However, 80% of babies with Down syndrome are born to women under age 35 years.

What is too thin for nuchal translucency? ›

The nuchal translucency measurement is more than just a screening for Down syndrome. A very small nuchal translucency measurement – less than 2.5 mm – places the pregnancy in a low-risk group for problems, such as fetal heart abnormalities.

What is the nuchal translucency measurement for trisomy 21? ›

The fetal NT increases with gestational age/crown–rump length. Due to this the NT measurement may considered abnormal when it is above 3.0 mm, or above the 99th percentile for the gestational age. In pooled data from 30 studies, NT screening alone has a sensitivity for trisomy 21 of 77% with a 6% false-positive rate.

What is the safe range for nuchal translucency? ›

The cut-off for the nuchal translucency measurement is 3.5 mm. If your measurement is less than 3.5 mm, this is considered "normal". If your measurement is 3.5 mm or more, this is considered "increased".

Can a 12 week ultrasound detect Down syndrome? ›

Screening for Down's syndrome will happen at the dating scan if: you have agreed to have screening for the condition. the scan takes place between 10 and 14 weeks of pregnancy.

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