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Comparison

Unlock your genetic secrets with personalised genetic counselling and carrier screening for ~800 hereditary genes.

NT Risks

Conditions associated with high Nuchal Transluncency (NT)

How it works

Chat with our Genetic Counsellor, receive your at-home DNA kit with a quick cheek swab, send it back, and get your results in under 4 weeks.

Why NT?

Discovered in 1992, nuchal translucency or NT remains the key early marker of a baby’s health, supported by more than 3,000 clinical research studies worldwide. It is often combined with other ultrasound markers and blood tests to provide a more accurate assessment of fetal wellbeing.

~100 conditions

It is estimated that at least 100 serious fetal health conditions are associated with increased NT, including chromosomal abnormalities, genetic syndromes, various heart defects, and other structural anomalies. Increased NT is also associated with a higher risk of miscarriage.

What is NT

Definition for medical professionals

Nuchal translucency (NT) refers to the subcutaneous fluid-filled space between the fetal skin and the soft tissues overlying the cervical spine, visible on ultrasound in the first trimester. A small NT is a normal developmental feature, but an increased NT measurement may indicate chromosomal abnormalities, genetic syndromes, cardiac defects, or other structural anomalies. Assessment of NT provides an important early marker of overall fetal wellbeing.

What is NT

Explanation for parents

Nuchal translucency (NT) is a small fluid space at the back of the baby’s neck, seen on early ultrasound. Every baby has some fluid, but when the NT is thicker than expected, it can sometimes be an early sign of genetic or structural problems. Measuring NT helps assess the baby’s wellbeing very early in pregnancy. An increased NT does not always mean there is a problem, but it is an important reason to carry out further tests to rule out possible conditions.

Why can the NT be high?

Understanding why NT increases

The NT measurement reflects the early development and balance of fluid within the baby’s tissues and circulation. It depends on the proper function of the heart, blood vessels, and lymphatic system, as well as the composition of the connective tissue. An increased NT may arise from temporary disturbance in fluid balance - for example, due to reduced cardiac function, delayed lymphatic drainage, or changes in tissue fluid permeability. Other biological mechanisms may also contribute, and some remain not yet fully understood.

Is increased NT always a concern?

It’s a stressful situation, but it can end well

No. An increased NT does not always mean that the baby has a health problem. In some cases, the extra fluid disappears naturally, and the baby develops completely normally. The reason why some healthy babies show an increased NT is not fully understood, but there is strong evidence that when no genetic or structural problems are present, the NT usually resolves and the outcome is good.

When can NT be evaluated?

There are three different periods when nuchal thickness can be measured

References

  • The Great Flood: It rained for 40 days and 40 nights.
  • The Israelite Exodus: The Israelites wandered in the desert for 40 years.
  • Moses' time on Mount Sinai: He spent two separate periods of 40 days and nights receiving the Law.
  • Moses' early life: He lived 40 years in Egypt and 40 years in the desert.
  • The spies: Moses sent 12 spies to explore the promised land for 40 days.
  • Elijah: He traveled for 40 days and nights to reach Mount Horeb.
  • David and Goliath: Goliath taunted the Israelites for 40 days before David defeated him.
  • Jonah: Jonah warned the city of Nineveh that it would be overthrown in 40 days.
  • Ezekiel: He lay on his right side for 40 days to bear the iniquity of Judah.
  • Jesus' temptation: Jesus fasted and was tempted for 40 days in the wilderness.
  • Jesus' post-resurrection appearances: 40 days passed between his resurrection and ascension into heaven.
  • Lent: This 40-day period is a time of prayer and fasting in remembrance of Jesus' time in the desert.

Talk to our Team

NT’s 95th Percentile

Increased NT Cut-off day by day chart.

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Frequently
Asked Questions

What is carrier screening?

Carrier screening is a type of genetic test that checks whether you carry a gene for a hereditary condition, even if you don’t have any symptoms yourself. It’s most often used by individuals or couples planning a family, to understand the risk of passing on certain inherited conditions to their children.

Everyone carries some changes in their genes, but most don’t cause any health problems. Carrier screening looks for specific conditions that could be passed on if both partners carry the same faulty gene. If both you and your partner are carriers for the same condition, there’s a chance your child could be affected.

What conditions does carrier screening test for?

Carrier screening tests for a range of inherited conditions, including cystic fibrosis, Tay-Sachs disease, sickle cell anaemia, thalassaemia, and spinal muscular atrophy. At Jeen Health, our panel is pan-ethnic and includes 787 clinically relevant genes.

We focus on conditions that are serious, inherited in a recessive or X-linked manner, and have known health impacts. This means we test for conditions that could significantly affect a child’s quality of life, and that may not show up in either parent’s health.

Can I have carrier screening if I’m already pregnant?

Mostly yes, you can have carrier screening during pregnancy - depending on how far along you are. Ideally, carrier screening is done before conception so you have more time and options, but it’s still valuable if you’re already pregnant.

If you’re found to be a carrier during pregnancy, we may recommend testing your partner too. If both partners carry the same gene variant, there’s a 1 in 4 (25%) chance the baby could inherit the condition. Our genetic counsellors will support you through the next steps.

Is carrier screening accurate?

Yes, carrier screening is highly accurate at detecting known gene variants associated with inherited conditions. However, no test is 100% perfect, it’s possible, though rare, to be a carrier for a very rare or unknown variant not covered by the test.

At Jeen Health, we use advanced laboratory techniques and clinically validated panels to provide the most accurate results possible. Your results are interpreted by specialists to ensure they’re meaningful and reliable.

Can I have carrier screening if I’m already pregnant?

Mostly yes, you can have carrier screening during pregnancy - depending on how far along you are. Ideally, carrier screening is done before conception so you have more time and options, but it’s still valuable if you’re already pregnant.

If you’re found to be a carrier during pregnancy, we may recommend testing your partner too. If both partners carry the same gene variant, there’s a 1 in 4 (25%) chance the baby could inherit the condition. Our genetic counsellors will support you through the next steps.

How long does it take to get results?

Results usually take 3-4 weeks from when your sample reaches our lab. We’ll keep you updated and book a follow-up consultation to explain your results once they’re ready.

If further testing is needed for your partner, we’ll move quickly to support you and keep the process smooth. Our aim is to give you answers without delays, so you can plan your next steps with confidence.

What is the cost of carrier screening tests in the UK?

The cost of carrier screening in the UK can vary depending on how many conditions are tested and whether the screening is tailored to your background or family history. At Jeen Health, our tests start from £400, which includes the test kit, lab analysis, and a pre test consultation with one of our genetic counsellors.

Unlike the NHS, which only offers limited screening in specific cases, private testing gives you access to a wider range of conditions and more personalised support. It’s a one-time investment that can provide valuable insight into your family’s genetic health and help you make informed decisions about your future.

Who should consider carrier screening?

Carrier screening is recommended for anyone planning a pregnancy or currently expecting, especially if there's a family history of genetic conditions or if you come from an ethnic background with higher risks of certain inherited diseases. However, even people with no known history can be carriers without knowing it.

It’s particularly helpful for couples who want to make informed decisions about starting a family. Carrier screening can provide peace of mind or allow you to explore options like IVF with genetic testing, egg or sperm donation, or early diagnosis and support if you decide to conceive naturally.

How is the test done?

Carrier screening can be done easily and painlessly. Most people use an at-home saliva kit, collecting a cheek swab with a soft swab in just a few minutes. In some cases, depending on your location and test type, a blood sample may be required, this can be arranged either at our partner Spital Clinic in London or through a home phlebotomy visit.

Once your sample reaches the lab, your DNA is analysed to check for specific gene variants linked to inherited conditions. Our expert team will review the results, and you'll receive a detailed report along with a follow-up consultation to walk you through what it means for you and your family.

What happens if I’m found to be a carrier?

If you’re a carrier, it means you have one copy of a gene variant linked to a particular condition. You won’t usually have symptoms, but if your partner is also a carrier for the same condition, there’s a risk of passing it on to your child.

Our genetic counsellors will talk you through your results and what they mean. Depending on your partner’s results and your family plans, you may consider further testing, reproductive options, or simply keeping this information in mind for the future.

What happens if I’m found to be a carrier?

If you’re a carrier, it means you have one copy of a gene variant linked to a particular condition. You won’t usually have symptoms, but if your partner is also a carrier for the same condition, there’s a risk of passing it on to your child.

Our genetic counsellors will talk you through your results and what they mean. Depending on your partner’s results and your family plans, you may consider further testing, reproductive options, or simply keeping this information in mind for the future.

Do both partners need to get tested?

It’s ideal for both partners to be tested, but we usually start by testing one. If that person is not a carrier, no further testing is needed. If they are, then their partner should be tested to check for the same condition.

This step-by-step approach helps keep testing straightforward and cost-effective. Our team will guide you based on the results and help you understand your reproductive risks together.

Is carrier screening covered by the NHS?

Carrier screening is available on the NHS in specific situations, such as if you or your partner are from certain ethnic backgrounds or have a known family history of a particular condition. However, comprehensive screening for multiple conditions is not routinely offered.

Jeen Health provides private carrier screening with the support of expert genetic counsellors. This gives you access to broader testing, at your convenience, from the comfort of your home.

What are X-linked conditions?

X-linked conditions are genetic disorders caused by changes in genes found on the X chromosome — one of the two sex chromosomes. Since males only have one X chromosome (and one Y), if they inherit a gene variant on the X chromosome, they’re more likely to be affected by the condition. Females have two X chromosomes, so if one carries a faulty gene, the other can often compensate, which means women are usually carriers without symptoms.

Some common X-linked conditions include Duchenne muscular dystrophy and fragile X syndrome. If you’re a female carrier of an X-linked condition, there’s a 50% chance of passing the gene to each child. Sons who inherit it are more likely to be affected, while daughters may become carriers like you.

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