Down syndrome

But even that doesn't cover everything 😁 I just remembered something else. Back when I was pregnant, my doctor mentioned this NIPT test—it’s done through a simple blood draw and is significantly more reliable than the double or triple test—but it wasn't available here at the time. By the time you find yourself pregnant, there is a high probability that some major lab will have started offering it. Essentially, you'll have a much wider range of diagnostic options available to you before you ever have to consider an amniocentesis.

People might view me as quite young, but I don't really see myself that way. I certainly don't judge anyone for choosing their own timing, but let's face it—your early twenties are arguably the most ideal window for this. If my goal is to have two children before I hit thirty, now is the perfect moment to start. Plus, that maternal instinct I've felt since I was sixteen is telling me it's time.
Of course, I'm not talking about doing it immediately or right after having one, but still. I’m genuinely happy I decided to start this thread because it’s already been so worth it. You all have shared so much wonderful advice and pointed out things I hadn't even considered.
So, thanks so much, ladies! 🙂 🙂
👍

You aren't too old by any means; if anything, you're right in your prime 👍

thanks😍

I personally underwent an amniocentesis. My husband’s brother was born with Down syndrome. Early in my pregnancy, I visited a specialist at Mayo Clinic, and they strongly suggested an amniocentesis. Apparently, there are several variations of Down syndrome, and the specific type my brother-in-law carries is passed through the maternal line... His mother gave birth to him when she was 28 (since my husband and his brother share the same father).

The procedure itself wasn't painful—it was certainly uncomfortable, but I wouldn't call it painful. I received our results five weeks later. I carried the pregnancy to full term without any complications and had a perfectly "normal" delivery.
I would choose to undergo an amniocentesis every single time. As for whether I would consider termination if the results showed a condition, I truly don't know. However, I would want to know ahead of time whether I am bringing a healthy baby into the world or a child with special needs....

Well, I finally have some firsthand experience to share👍
thanks!

My main issue is that this branch of my family tree is quite distant, and since most of those relatives have passed away, I’d have to go knocking on a lot of doors just to figure out what specific type of Down syndrome that woman actually had. However, from what I've gathered through family stories, her mother (my great-aunt) had her quite late in life, so maybe that was the cause rather than genetics. I really hope that's the case...

In any case, I've decided to ask my doctor for a referral to a geneticist. I just hope I can find someone with enough patience to handle all my questions, since that isn't exactly the standard practice with doctors these days.😢

Are you saying an amniocentesis isn't painful, just uncomfortable?
That's pretty much what I assumed, but tell me—is the procedure performed using ultrasound?
I imagine they use the ultrasound to monitor the exact area where the needle is inserted to draw the amniotic fluid, just to make sure nothing happens to the baby, right?

And just one more thing... how did you feel while you were waiting for the results?
Were you incredibly stressed, or did you just manage to stay calm and think, "whatever happens, happens"?

Lisa Richardson8 :
Apparently, there are several different types of Down syndrome.

There's the regular type, mosaicism, and translocation—though those last two are quite rare—with the standard version accounting for about 90% of cases.

Justin Gonzalez87 said:There are three types: regular, mosaic, and translocation. However, those last two are quite rare; about 90% of cases involve the regular type.

What would you say are the primary differences between these specific types?

Which one isn't passed down through genetics?

Ronald Collins2 said:So, what are the fundamental differences between these types?

Which one isn't hereditary?

Inheritance is a messy business—honestly.😁 😁 😉
Here is the breakdown:

The human body is made up of a massive number of cells. At the center of every cell lies a nucleus containing genetic material—our genes—organized around rod-like structures called chromosomes. In a healthy individual, each cell nucleus holds 46 chromosomes, or 23 pairs, inherited from both parents. A specific type of cell, the germ cells, carries the genetic code passed down through generations—essentially our biological blueprint. This genetic material in germ cells can undergo harmful changes, known as mutations, during aging or when cells divide following fertilization.
Darwin syndrome occurs due to an error in chromosome transmission during the division of germ cells; essentially, a cell ends up with an extra full or partial chromosome—specifically, chromosome 21 (cells typically contain 23 different chromosomes numbered 1 through 22, plus the 23rd sex chromosome). It most commonly occurs within the egg cell prior to fertilization, less frequently after, and in fewer instances, within the sperm. In these cases, the cells don't have 46 chromosomes, but 47, because of that extra 21st chromosome. Since there are three copies of chromosome 21, Darwin syndrome is often referred to as "trisomy 21."

Beyond classic trisomy 21, there are patients with Darwin syndrome who possess two distinct types of cells—one with a normal chromosome count and another with 47—which is known as mosaicism. There is also a third form, where a piece of chromosome 21 detaches during cell division and "attaches" to another chromosome; in this case, the total number of chromosomes remains unchanged. So, while the total count stays at 46, the presence of that detached fragment causes the symptoms. This is called translocation. Mosaicism accounts for about one to two percent of cases, while translocation appears in roughly three to four percent.

And finally, this:

Despite decades of research, the exact reason why this cellular division error happens remains unknown. The way Darwin syndrome manifests isn't dictated by external factors—it isn't something that can be influenced.

A friend of mine from New York City was an older mother—conceived after age 35—and underwent testing during both pregnancies.
With her second child, the results indicated that 'something' wasn't quite right. Specifically, she was told she was carrying a Down bebac.
At first, she fell into a coma and required some time to recover.
She didn't terminate the pregnancy.
Ultimately, she gave birth to a perfectly 'normal' little girl.

However, it turns out someone else was actually the one expecting a Down beba; the laboratory staff had mixed up the files.

I just hope the other baby ended up with a good mother.

Justin Gonzalez87 said:Forget about inheritance altogether😁 😁 😉
Here you go:

The human body is made up of a massive number of cells. At the center of every cell lies a nucleus containing our genetic material—our genes—which are organized around rod-like structures called chromosomes. In a healthy person, each cell nucleus holds 46 chromosomes, arranged in 23 pairs inherited from both parents. Specific types of cells, known as germ cells, pass this genetic code from one generation to the next, carrying all our unique traits. This genetic material in germ cells can undergo harmful changes, known as mutations, due to aging or during cell division after fertilization.
Darwin syndrome occurs when there is an incorrect transfer of chromosomes during the division of germ cells, resulting in a cell having an extra full or partial chromosome—specifically, an extra copy of chromosome 21 (since a standard cell has 23 different chromosomes numbered 1 through 22, plus the 23rd sex chromosome). It most commonly happens in the egg cell before fertilization, though it can occur after fertilization, and more rarely in sperm. In these instances, the cells contain 47 chromosomes instead of 46 because of that extra 21st chromosome. Because there are three copies of the 21st chromosome, Darwin syndrome is frequently referred to as "trisomy 21."

Beyond classic trisomy 21, some patients have mosaicism, where they possess two different types of cells: some with a normal number of chromosomes and others with 47. There is also a third type involving translocation, where a piece of chromosome 21 breaks off during cell division and attaches to another chromosome. In this case, the total number of chromosomes remains 46, but the presence of that detached piece of the 21st chromosome still causes the symptoms of Darwin syndrome. Mosaicism accounts for about one to two percent of cases, while translocation appears in roughly three to four percent.

And finally, this:

Despite years of research, the exact reason why this faulty cell division occurs remains unknown. The way Darwin syndrome manifests isn't influenced by external factors, nor can it be prevented.

Oh boy, Justin Gonzalez87, I promise I won't bother you anymore.😁 😁 👋

I've read similar things online, but it seems like the origin of Darwin is so complex that even scientists can't quite agree on everything. For me, the whole idea of inheritance is what's most confusing, since it clearly remains such a mystery.😢

Jacob Fisher68, that is just awful😢

Two women underwent a procedure that was anything but harmless, only to receive completely incorrect results😲

I know much worse things happen out there, but still, this is just terrible.........

Reddoorgirl said:Well, here we finally have some firsthand experience.👍
thanks!

The issue for me is that this branch of my family tree is quite distant, and since most of those relatives are no longer with us, I’d likely have to go door-to-door just to determine which specific Darwinian type that woman actually had. However, from what I’ve gathered through family stories, her mother—my great-aunt—had her quite late in life, so perhaps that was the culprit rather than pure genetics. I truly hope that's the case...

In any event, I’ve decided to request a referral to a specialist. I just hope I can find someone with enough patience to handle all my questions, as that unfortunately isn't exactly the standard of care you encounter with doctors these days.😢

Are you saying an amniocentesis isn't painful, but rather just uncomfortable?
That was my assumption, but tell me—is the procedure performed under ultrasound guidance?
I imagine they use the ultrasound to monitor the exact area where the needle enters to extract the amniotic fluid, ensuring there is no risk of harming the fetus, right?

And just one more thing... how did you feel while waiting for the results?
Was it incredibly stressful for you, or did you manage to adopt a "whatever happens, happens" attitude?

Yes, the procedure is performed under ultrasound guidance.
As for myself, I didn't let it weigh too heavily on my heart... whatever will be, will be. I simply left the worrying and the decision-making for after the results came in.

Regarding the geneticist over at Rib (I believe that's the only such facility in the city—the Center for Human Genetics), the gentleman there was truly wonderful...

Reddoorgirl said:Oh boy, Justin Gonzalez87—I promise I won't bother you anymore.😁 😁 👋

Go right ahead 😉 🙂

Lisa Richardson8 said:Regarding the geneticist over at Rib—I believe he’s the only one in town, based at the Center for Human Genetics—the guy was truly excellent...

I usually see my specialist at the Klaićian clinic🙂—she's wonderful, though I suspect her focus is strictly on pediatrics and children with disabilities; I'm not entirely sure if she offers counseling for prospective parents looking for guidance. 😕

I can't say for certain... when my doctor initially referred me there for a second opinion, he mentioned it was the only facility on the East Coast capable of performing amniotic fluid analysis...
It doesn't really matter; they're highly reputable anyway.

Well, the only genetic counseling center available at Rib is the one I mentioned; the facility over on Klaićian Street is strictly for pediatrics.

Hi everyone,
I have a quick question for anyone who might have gone through something similar. I just had my nuchal translucency scan today, and at only 13 weeks pregnant, they measured it at 5 mm. I think I read somewhere that there’s a chance this measurement could normalize during the second trimester. Given that, what are the actual odds that my baby has Darwinian syndrome? Has anyone else dealt with a high reading like this?

Anonymous said:Hi everyone!
I was wondering if anyone with personal experience could help me out. I just had my nuchal translucency scan today, and at only 13 weeks pregnant, it measured 5 mm. I think I read somewhere that this measurement can sometimes return to a normal range during the second trimester. What are the actual odds regarding a Darwinian diagnosis? Has anyone else gone through something similar?

There is actually a huge thread dedicated to Down syndrome over on the Parenting & Kids subforum
I really think you'll find more specific answers to all your questions over there!

😕Is it possible for Black Americans to have Down syndrome?😕