High NT? Speak to
our team today.

12-13 Week Scan

SMART NT Step Two:
Targeted scan to detect structural anomalies, heart defects and monitor NT change over time

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.

100 anomalies

We estimate that at least 100 distinct structural conditions are detectable at 12–13 weeks. This is supported by multiple studies showing that around 50% of structural anomalies can be identified between 11 and 14 weeks.

NIPT results + scan

In the case of a high-chance genomic NIPT result, a targeted 12-13 week scan aims to detect structural anomalies and physical differences, trying to refine the prenatal phenotype to guide care.

What is a targeted scan?

Looking fo conditions linked to iNT

There are many structural anomalies associated with iNT. The most common include congenital heart defects, spina bifida, congenital diaphragmatic hernia, abdominal wall defects (e.g. exomphalos), renal and bladder anomalies (e.g. urinary tract obstructions), major brain anomalies, and skeletal/limb anomalies. In our experience, a targeted expert scan at 12–13 weeks detects a large proportion of these, because iNT-associated anomalies are often more severe and therefore more visible this early. Conversely, a normal scan together with a improving/normalising NT is strongly reassuring about the baby’s structural integrity.

What organs are checked ?

Expert top-to-toe examination of the fetus

The targeted scan is fundamentally different from a standard 12-week NT scan. Whereas the routine scan focuses on measuring NT and has no protocol for a systematic structural review, SMART NT – Step Two performs a comprehensive assessment of all organs. We also assess tiny structures, like fingers and lips, using a checklist closely modelled on the 20-week anomaly scan. We have over 20 years’ experience with this approach. The scan also measures NT thickness, but uses it to track NT evolution (improving, stable or increasing) rather than as a parameter of the Combined Test.

What is early fetal echo?

Exclude major congenital heart defects

iNT is strongly associated with congenital heart defects (CHD). Early fetal echocardiography (early fetal echo) is an integrated part of our SMART NT - Step Two. It is an ultrasound scan of the fetal heart, a powerful tool that can detect at least 50% of major cardiac anomalies. If iNT reflects an underlying heart problem, it will usually be evident at this stage. Any cardiac findings should prompt referral to a fetal cardiologist for detailed assessment, counselling on likely treatment (often postnatal surgery), and discussion of the long-term outlook.

What is "phenotyping"?

Genotyping by NIPT guides scanning

Genotyping means testing the baby’s DNA (e.g. genomic NIPT, CVS, etc) to look for chromosome changes or gene variants (mutations). Phenotyping means assessing the baby’s features on ultrasound (anomalies, structure, growth, “soft markers”, etc) to see how a condition presents and behaves. After a high-chance genomic NIPT result, a targeted 12–13-week ultrasound looks for structural features of the condition and refines prognosis. Some genetic syndromes have recognisable patterns of abnormalities; this scan is designed to identify those features and guide counselling and management.

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.

Crown-Rump Length

or CRL (mm)

29
30
31
32
33
34
35
36
37
38
39
40
41
42
Crown-Rump Length

or CRL (weeks)

43
44
45
46
47
48
49
50
51
52
53
54
55
56
Crown-Rump Length

or CRL (weeks)

57
58
59
60
61
62
63
64
65
66
67
68
69
70
Crown-Rump Length

or CRL (weeks)

71
72
73
74
75
76
77
78
79
80
81
82
83
84

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.

Get in touch

Our team of experts is here to help. We're just a message away.

Check - Elements Webflow Library - BRIX Templates

Thank you

Thanks for reaching out. We will get back to you soon.
Oops! Something went wrong while submitting the form.