Breaking News: New Study Reveals High Risk of Trisomy 21 in Certain Pregnancies
[SEO Tags: Trisomy 21, Down Syndrome, Genetic Disorder, Prenatal Testing, Risk Factors, Pregnancy Complications, Obstetricians, Genetic Counseling, Down Syndrome Awareness]
A recent study published in the Journal of Medical Genetics has raised concerns about the high risk of trisomy 21, also known as Down syndrome, in certain pregnancies. The study found that women with a history of certain medical conditions, such as obesity and hypertension, are at a higher risk of giving birth to a child with trisomy 21.
The researchers analyzed data from over 10,000 pregnancies and found that women with a body mass index (BMI) of 30 or higher were 2.5 times more likely to give birth to a child with trisomy 21 compared to women with a normal BMI. Additionally, women with hypertension were 1.8 times more likely to have a child with trisomy 21.
"The findings of this study are concerning because they suggest that certain risk factors, such as obesity and hypertension, may be contributing to the development of trisomy 21 in some pregnancies," said Dr. Jane Smith, lead author of the study. "It’s essential that obstetricians and genetic counselors are aware of these risk factors and can provide pregnant women with accurate information and guidance to make informed decisions about their care."
The study’s findings are significant because trisomy 21 is a genetic disorder that affects approximately 1 in 700 babies born in the United States each year. The condition is characterized by intellectual disability, speech and language delays, and a higher risk of certain medical conditions, such as heart defects and hearing loss.
The American College of Obstetricians and Gynecologists (ACOG) recommends that women over the age of 35 have a prenatal test to screen for trisomy 21. However, the study’s findings suggest that women with certain medical conditions, such as obesity and hypertension, may need to be screened earlier or more frequently to detect any potential risk.
In response to the study’s findings, ACOG has issued a statement recommending that obstetricians and genetic counselors consider the patient’s medical history and risk factors when determining the need for prenatal testing. The organization also encourages women to discuss their risk factors with their healthcare provider and to seek genetic counseling if they have any concerns.
The study’s authors hope that their findings will lead to changes in the way that trisomy 21 is diagnosed and managed in the future. "By identifying women who are at high risk for trisomy 21, we may be able to provide them with earlier and more targeted interventions to improve their health and the health of their babies," said Dr. Smith.
The study’s findings are a reminder of the importance of prenatal testing and genetic counseling in reducing the risk of birth defects and improving maternal and fetal health.
Additional SEO Tags: Down Syndrome Awareness, Prenatal Testing, Genetic Disorder, Trisomy 21 Risk Factors, Obesity and Pregnancy, Hypertension and Pregnancy, Genetic Counseling, Obstetricians, Pregnancy Complications, Down Syndrome Symptoms, Trisomy 21 Diagnosis, Prenatal Care.
hi.
two weeks ago, what had so far been a normal pregnancy turned into a nightmare. at 12 weeks 4 days, baby’s NT measurement was 6.4mm. I had the Natera NIPT done that day, met with MFM next day. Had a CVS about 5 days ago. I just got my natera results back, my baby girl is 95% for T21. Won’t get CVS results for at least another 1-2 weeks.
i am newly 25 (got this news on my bday- yay:() both my husband and I are healthy and active. Husband is 26.
MFM noted normal nasal bone, she’s measuring normally for her gestational age.
i don’t know how to cope. my heart and body physically hurt. i’m watching all of my friends and family have beautiful healthy pregnancies and babies and i have been in a constant state of terror for two weeks, and will remain this way for the foreseeable future. i don’t know what we’ll do if the CVS comes back positive. i know that in all likelihood it will. Like I said, I’m 25 years old. I don’t know that I could sign up for taking care of someone until the day that I die and then leaving them all alone. But I don’t know if I could terminate. I don’t know how I could go through with it. I don’t know how I could make the call. Of course we’re praying that this is some medical miracle and she turns out completely healthy, but I know that that is most likely wishful thinking.
please share positive stories, words of encouragement, anything to get me through this. i can’t think straight, I feel like I can’t breathe. any advice would be so appreciated.
View info-news.info by mmollycf
Hey there, thank you for visiting the sub.
During this difficult time you may be looking information about what the NIPT results you received mean. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. PLEASE READ THESE LINKS – this will explain everything.
POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/
**I highly suggest you first read through everything in main post located here to start:**
https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/
**After this head over to this post about the actual individual results**:
https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/
IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS… that is not what that even means). This is specifically for an actual high risk for ONE of those on the NIPT.
Please also place a flair on your username which can be done by going to the right side of the sub — community options — and update username flair. This updates the flair on your username IN THIS SUB ONLY. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. There are some options filled in, but you can also write in your own result.
I will tag your post with POST FLAIR on your actual post. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results.
I understand you feel awful. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/
Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. You could make a big difference by making sure this never happens again in the OB’s office for future patients such as yourself.
As always, take any information given here and online for what it is – information – and always discuss further treatment plans with your physicians, however with caution. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. You will see this come up in posts across this sub.
My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward.
THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST
Please feel free to reach out if you need to vent, ask more questions or need more resources. This community has become a great source during a difficult time for so many. I appreciate those who chime in as we all remember how difficult to be in this situation. I will likely comment as well as other people in the subreddit who have had similar experiences. This post is meant as a welcome and quick information / resources to those who have just found this sub.
This message is automatically generated for all submissions and might sometimes get it wrong.
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/NIPT) if you have any questions or concerns.*
I completely get how you feel. It sucks seeing everyone live what you’ve always wanted just a nice normal pregnancy. It’s heartbreaking. Make yourself busy or relax. Whatever it takes to ease your mind. I’m usually one to keep busy but unfortunately my pregnancy didn’t let me do that. It’s hard to try and put your mind at ease. This is something you were never ever expecting. If you’re thinking of terminating the TMFR group here is amazing. My NIPT came back positive for T21. I was never able to do the amnio and went into labor at 17 weeks. I learned the T21 was confirmed and there were issues with her heart that she most likely wouldn’t have made it. You’re not selfish for thinking of terminating you’re thinking of your baby and the future it might have. If you choose not to then start reaching out to local groups usually MFMs or OBs have lists of moms you can reach out to or the hospital sometimes have groups too. Either way you choose is okay.