What is the Nuchal Translucency? | Genetic Counselor Explains

Рет қаралды 923

Allay Life®, Virtual Genetic Counseling

Күн бұрын

In this episode, Kendra Schaa, a board-certified genetic counselor, explains the nuchal translucency ultrasound, why and how the nuchal translucency (NT) is measured, and what an increased NT measurement can mean. This episode describes how to prepare for next steps if you receive an increased NT measurement, including information about prenatal genetic testing, prenatal ultrasound and fetal echocardiogram. If you have received an increased/abnormal NT ultrasound, Kendra offers 1-on-1 virtual genetic counseling appointments. To schedule an appointment, visit app.profi.io/book/allaylife.
Check out our digital workbook created for those who receive abnormal genetic test results or ultrasound findings - allay-life.com/product/findin...
Disclaimer: This video is for general informational purposes only and does not constitute the practice of medicine or other professional healthcare services. The use of this information and the materials linked to this video is at the user's own risk. The content in this video is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Users should not disregard or delay in obtaining medical advice for any medical condition they have, and they should seek the assistance of their healthcare professionals for any such conditions. Knowledge about genetics is constantly evolving. This information may become out of date.
00:00 Intro
00:48 What is the nuchal translucency and why does it matter?
01:33 Prenatal genetic testing and ultrasound, regardless of NT measurement
01:50 How the NT is measured
02:12 Factors that may impact the accuracy of the NT measurement
02:25 When the NT should be measured according to different guidelines
03:03 Normal NT measurements
03:40 Abnormal/Increased NT measurements
04:35 Changes in NT during pregnancy
05:02 Can a baby be born healthy with an abnormal NT measurement?
05:30 Factors that may cause abnormal NT measurement
06:03 Coping with an abnormal NT measurement
06:20 Genetic conditions that can cause abnormal NT measurement
07:14 Structural changes that can cause abnormal NT measurement
07:35 Fetal echocardiogram + detailed anatomy ultrasound
07:54 Family history and NT measurement
08:15 Genetic testing options
09:09 Chorionic villus sampling (CVS) + Amniocentesis
09:50 NIPT testing after abnormal NT measurement
10:35 Preparing after negative genetic testing results but abnormal NT measurement
11:05 What happens to a baby born with an abnormal NT measurement?
11:25 Why diagnosing a genetic condition can be helpful
11:40 Closing
Thank you for watching. For more information check out the links below:
Guidelines for measuring the Nuchal Translucency
- Nuchal Translucency Quality Review Program: ntqr.perinatalquality.org/wfF...
- The Fetal Medicine Foundation:
fetalmedicine.org/fmf-certifi...
Calculator to determine percentile based on NT measurement and crown-rump length (CRL): www.perinatology.com/calculat...
For support resources and to learn more about Allay Life, visit www.allay-life.com.
With love and light, see you next time.
Reference:
In regard to whether a baby can be born healthy with an abnormal NT measurement, the following research was referenced: Haak, M. C., & van Vugt, J. M. (2003). Pathophysiology of increased nuchal translucency: a review of the literature. Human reproduction update, 9(2), 175-184. doi.org/10.1093/humupd/dmg008
Music courtesy of Pixabay.
Keywords: nuchal translucency, NT, NT scan, nuchal translucency ultrasound, nuchal translucency scan, pregnancy, genetic testing, genetic counselor, chromosome condition, Down syndrome, amniocentesis, chorionic villus sampling, CVS, NIPT, diagnostic testing, prenatal testing, prenatal genetic, prenatal ultrasound
Produced by Gabby Estlund
Website: gabbyestlund.com
Contact: gabbyestlund@gmail.com

Пікірлер: 10

@patriciaburger8138 7 ай бұрын

Your posting was the most concise, helpful, and informative I have read regarding NT. My daughter in law is currently dealing with getting a high NT value during her pregnancy and I want to understand the situation without asking her too many questions during this stressful time. I greatly appreciate you sharing your knowledge on this subject.

@allaylife 7 ай бұрын

Thank you for sharing this feedback. I will be keeping your family in my thoughts during this stressful time. I wanted to share this post I wrote that you or your family may find helpful - allay-life.com/coping-after-unexpected-news/

@deepathangavelu4018 10 ай бұрын

Hi, I got high NT value of about 5.5 mm as of 14 weeks and day 2. I got low risks in double marker tests. My gynaec suggested to go for amniocentesis. Are there chances of low risks in amniocentesis given the double marker is low?

@allaylife 10 ай бұрын

The double marker test only screens for 2-3 chromosome conditions, whereas the amniocentesis can test for many more conditions. An increased NT can be associated with other conditions that the double marker test did not screen for. Having a low risk double marker test decreases the risk for a fetus to have the specific conditions the test screened for, but the double marker test is not 100% accurate.

@AnamKhan-xg7eh 5 ай бұрын

My baby has 6mm nuchal thickness in his 22 weeks of ultrasound and i did NIPT test got all the results negative but i got one more ultrasound in week 30 and nuchal thickness is still 6mm what should i do now ? do i need to talk to Fetal maternity and get amniocentesis or should stay calm because NIPT test was negative and everything else in ultrasound is fine just the thickness is still the same ? i’m really worried

@allaylife 5 ай бұрын

This video is specific to increased nuchal translucency in the first trimester. Thickened nuchal fold in the second trimester is typically defined as a measurement equal to or greater than 6.0mm between 15-20 weeks gestation. This finding (if seen in isolation meaning no other abnormal ultrasound findings) can be associated with Down syndrome (trisomy 21) but NIPT typically has a 99% detection rate for that condition. Some people feel they need an amnio to confirm their negative NIPT results but others feel ok without amino. There is not any consistent data or research on the meaning of a thickened nuchal fold later in gestation (after 20 weeks).

@brahimihouda3826 Ай бұрын

I have NT 2.2 mm at 11 weeks and 3days but screening results shows 1in 330 , I am waiting results of NIPT now , it is very tough to wait with doubt knowing that I am 36 years and will turn 37 when I give birth ,

@allaylife Ай бұрын

Waiting for test results can be very hard. Hoping everything turns out as you hope for this pregnancy.

@user-iv5ij2jb6m 18 күн бұрын

Did your wife give birth to a healthy baby? I have the same measurements. I had a blood test and am waiting for the results

@brahimihouda3826 17 күн бұрын

@@allaylifethanks god I received the NIPT result , it shows very low risk and also was able to determine the sex of the baby