r/NIPT

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hello everyone, I posted here last May with a 1 in 5 chance of DS from the results of our FTS ultrasound and blood works. I didn’t get any NIPT or any invasive testing. Since then, we prayed for our sweet baby every day. We had our 20 week Congenital Anomaly Scan in the end of June and everything looked normal, and we found out that he is a boy, after two girls we were overjoyed to have a boy to complete our family. The only concern was he has a short nasal bone, but for us it really isn’t a big concern because we are Filipinos and we tend to have small noses. We felt relieved even though they still didn’t lower the odds for DS for our baby. We decided to get a private 5D ultrasound at 27 weeks to see if our baby is growing accordingly, we were so happy to see him just thriving and growing just right, and what an amazing feeling to sneak a peek of his cute little face. We cannot wait to meet our sweet baby boy.

Thank you all.🩵

I got the NIPT done at 10 weeks and change and had a 5.9% fetal fraction. The results were low risk for everything and that I was having a girl.

Today (19w4d) I had my anatomy scan, which showed that it’s a boy.

Has anyone ever experienced something similar, where the gender was wrong but the low risk results were still correct?

We did NIPT at week 11 came back with High risk of T21
It was recommended to do the amnio test.

At week 15+ we did FISH for the amnio for 100 cell all came back normal.

Any one went through same situation and do we need to have karyotyping?

This is 2nd baby the first one was normal I am 29 years old.

I heard my baby’s heartbeat at 9w 2d. It was fast, I knew it was a girl. I thought it anyway, and I know HR is a wives tale. But hearing the fast HR, I knew it was a girl. A week later we got the call I was high risk for Trisomy 21 (99.6 PPV) and confirmed girl.

I scoured this thread reading all the false positive stories. I had such peace and calm, so I thought that meant she would be one of the miracle babies. Today I am 10w 2d, and there was no heartbeat. She’d stopped growing several days ago.

I’m sad but also calm. I’m so thankful if it was going to go this way, that I didn’t have to go through the ups and downs of more tests and more confusion. God made the decision for us. For that, I am thankful.

My D&C is in 2 days.

We have a wonderful son, and I will continue to be forever thankful for the blessing he is.

Thank you to everyone who contributes to this thread. It really got me through some difficult days.

Hi ladies, I'm currently 35 weeks pregnant (35+0 to be exact), and after today's appointment, I'm going crazy. The doctor said "skeletal dysplasia (dwarfism) can't be ruled out," and I'm very worried. I wanted to ask if any of you have had a similar situation, where your leg measurements fell in the percentiles, but your baby was born healthy?
Throughout the pregnancy, the measurements increased as follows (approximate percentiles are given in parentheses):

18+3 tc: BPD 46 mm (75%), HC 157 mm (50%), AC 135 mm (50%), FL 28 mm (50%), Masa: 265 g (55%)
22+3 tc: BPD 59.76 mm (75%), HC 218 mm (60%), AC 193 mm (70%), FL 35.40 mm (35%), EFW: 550 g (65%)
26+3 tc: BPD 72.20 mm (85%), HC 254 mm (75%), AC 204 mm (15-20%), FL 45.09 mm (30-35%)
30+3 tc: BPD 84.03 mm (92%), HC 303 mm (85%), AC 273 mm (75%), FL ~56.3 mm (35%), EFW: 1736 g (75-80%)
33+3 tc: BPD 86.26 mm (55-60%), HC 310 mm (60%), AC 307 mm (65-70%), FL ~58.9 mm (15-20%), EFW: 2237 g (55-60%)
34+0 tc: BPD 90.1 mm (85%), HC ~319 mm (70-75%), AC 314.7 mm (75-80%), FL ~55.6 mm (10-15%), EFW: 2317 g (65-70%)
35+0 weeks (current): BPD 93.3 mm (90%), HC 326.3 mm (70-75%), AC 325.3 mm (80%), FL 57.1 mm (drop to 3-5th percentile!), HL 51.4 mm (5-10%), HC/AC ratio = 1.00, EFW: 2492 g (ideal 50th percentile).

As you can see, the head and belly are plump, the baby's overall weight is perfectly within the normal range, but the femur (FL) is falling into lower percentiles with each examination and has now reached the lower limit (3-5%).

The good news: the doctor said the bones are straight, without signs of fracture, and well calcified. The chest is also normal (no signs of stenosis). Blood flow (Doppler) is excellent, and the cerebro-umbilical cord index (CPR PI) is 1.80, so the placenta is functioning perfectly. However, the doctor couldn't see the baby's face and forehead profile clearly because the baby is already low and the positioning didn't allow for it.

Has anyone experienced a situation where their femur slowed down so much towards the end of pregnancy, reaching the 3rd percentile with a large head, only to find out after delivery that it was simply a natural part of the baby's appearance (e.g., after their father/grandfather)? I'd appreciate any words of support or your experiences, as I'm going crazy.

Curious if anyone has had a vaginal delivery of your miscarried or still born baby after having had a previous c-section? I have had two c-sections with our living children due to long labor/failure to progress and the other due to her heart rate continuing to drop. Both kids were past due or right at due date and I hemorrhaged both times.

I’m nearly 16 weeks pregnant with our third and we got the trisomy 18 diagnosis 4 weeks ago. I’ve been cramping much more this week and feel like the end is near. Her case is really bad.

I’ll share more about my story in another post one day, but in search for more information to better prepare myself I couldn’t find much on this question.

I appreciate anyone sharing their experience of vaginal after cesarean with a sleeping baby 🩵

Hi! Doing my LifeLabs Panorama NIPT (full panel) this Friday and I will be 9w4d based on LMP but 9w2d based on dating ultrasound (dating 2 days behind). This test is specifically valid at 9+ weeks but I’ve read some people have had to do a redraw due to low fetal fraction. I want to avoid a redraw but my dates are accurate, BMI is 19 (normal, I read higher BMIs are associated with lower fetal fraction). No meds or other things that may affect it. I’m open to waiting till the following week ~10 weeks (or 9 weeks 6 days) but not sure this will make a huge difference.

Has anyone done the same NIPT at 9+ weeks with a normal BMI and gotten a result? Alternatively has anyone with the same criteria as me been asked to do a redraw if inconclusive? If it’s likely okay, I’ll proceed now. However to avoid a redraw and another waiting game I am open to doing it a few days or a week later.

Thanks!

We had amnio on 5 Aug. Got reassuring FISH results on 7 Aug.

Phone today hoping there is some results (13 days) but MFM office told me this could be 3-4 weeks😭. I could handle the 2 week wait,but 4 weeks I might start to go insane.

How long did your microarray and karyotype take?

I just wanted to share our story as this community has been such a good source of information for my husband and I during the gruelling last few weeks of being in limbo. Timeline broken out below.

12 + 3 - I received a phone call from my midwife that my NIPT had come back high risk for T21 suggestive of mosaicism. In her 30 years as a midwife, she has not seen this before but explained that essentially the odds were 50/50 whether this was a case of confined placental mosaicism or if the baby would have T21. We had a video call with a genetic counsellor that same day which was funded through the NIPT provider. My husband and I decided that if the diagnosis was positive for T21, we would not continue with the pregnancy.

15 + 3 - We had our appointment with maternal fetal medicine after what must have been the hardest 3 weeks of our life. The wait was truly horrific and I was convinced we would be TFMR due to a positive diagnosis. The team were lovely, we had an in-depth early anatomy scan where no structural signs of T21 were seen. I then had an amnio performed which wasn't super fun but I think this was primarily due to the mental side of what is physically happening to you rather than the physical aspect itself. I had the rest of the day off work and took it easy for the next 48 hours with no lifting my toddler etc.

15 + 4 - MFM called to let me know that the QF-PCR (FISH is not performed where we live) was negative but as this only detects mosaic cells from around 25% was a reassuring result but nowhere near conclusive. We were advised that the full results from the microarray would be 2-3 weeks.

17 + 3 - MFM called again to advise that the microarray had also returned a negative result for any abnormalities. This particular lab states that the test is accurate to a level of 10% but we obviously just need to take this at face value and we will now treat the remainder of the pregnancy like I have CPM. I will have fortnightly growth scans from 28 weeks where if growth is impacted to a level they believe it is a risk, they will induce labour early.

We have been given the option of testing babies cord blood at birth which we are undecided on due to not being able to do delayed cord clamping and I'm also not sure I want another lot of pending results hanging over my head in early post partum when the chances are so slim. We will discuss this with our care team further as we head along though.

I just wanted to share my story as I was desperate for more stories of a result like mine resulting in CPM (although because I didn't have a CVS it still could have been a false positive). I'm so grateful for all the stories, personal experiences and knowledge shared here and am excited to start celebrating this much wanted pregnancy again <3

I am 41 years old. 6th child. (first surprise, all the others were planned) We have been given a positive NIPT for Trisomy 21 and as you can imagine, we are still processing the initial shock. Soft markers have been a choroid plexus cyst on the brain and a bright spot on the heart. Our OB was not alarmed by these findings, she said "I see these weekly and often times they resolve." Sadly, she was not in office on my appt day and her NP stressed to me to get a an NIPT test. OB called me the next day-mind you, she has delivered all of my children and knows me VERY well-and said "Your ultrasound doesn't worry me, now I'm hating that you have to sit in anxiety waiting on the test." Which of course my husband and I have been. Results came back as high probability. She is very surprised, as are we. Met with Maternal/Fetal specialist yesterday who saw nothing too alarming on the ultrasound, except perhaps small femur and humerus. We relayed to him this was not concerning to our OB because my children have very large heads (I typically have 9-10lb babies) and they are always disproportioned. He said it could not be alarming then but with that plus the positive NIPT we should prepare for a baby with DS. We declined the amnio. We will just wait until baby is born but of course the unknown is frightening. We are not telling our children or family. I am processing enough, I can't help them process too. We also don't want to highlight to our children this is a "bad" thing...they will accept any sibling, they are wondeful kids. I am looking for hope...they did mention placental mosaic...I'm just looking for ONE person to say "This is so similar to me and my baby did not have DS." We will welcome any child...but we are just processing so much. I know it's a teeny window but is there anyone who can share a similar story? I wish I had not done the NIPT. I would just be monitored for growth, as nothing is alarming except the smaller bones. Absolutely no heart defects, no echogenic bowel, nose bone fully formed. Their profile looks so normal that I am having a hard time accepting. I also would love stories of encouragement. We are very accepting of what this child will have, we are not considering termination (personal choice) but it's still the unknown that frightens me as I have 5 other children that I give most of my capacity to. I guess the glimmer of hope is the placental mosaic, the decent ultrasound findings which I know can not show DS, but lack of structual anomalies...the specialist said something along the lines of "Well, the good news is, I don't see your baby being severe and needing heart surgery at birth." But of course I'm thinking then maybe they don't have it? He also mentioned a lot of babies are miscarried in first trimester so another glimmer of hope?

1 in 156 risk for T21 — waiting for NIPT and questioning whether I should have gone straight to invasive testing

Hi everyone, I’m currently waiting for my NIPT results and the anxiety is really getting to me. I’m hoping to hear from anyone who has been in a similar situation.

At my NT ultrasound, baby measured 12w6d. The NT was 2.8 mm, the nasal bone was present, and the basic anatomy they could see at this stage looked normal.

However, my first trimester screening came back with an increased risk for Down syndrome (Trisomy 21) of 1 in 156.

I got somewhat different advice about what to do next.

My family doctor suggested going for invasive diagnostic testing. However, the ultrasound/prenatal screening clinic suggested doing NIPT first, and then considering invasive testing depending on the NIPT result.

I ultimately decided to do the NIPT first. I felt more comfortable following the recommendation from the prenatal screening clinic because they deal with these screenings regularly, whereas I didn't feel very confident in my family doctor's guidance on this particular issue.

Now I'm waiting for the NIPT result and, of course, I'm second-guessing everything and wondering whether I should have just gone straight to CVS/amniocentesis.

Has anyone had similar numbers - particularly an NT around 2.8 mm and a first trimester screening risk around 1 in 156 - and then had a low-risk NIPT?

And for anyone who was given the choice between NIPT first vs. going directly to diagnostic testing, what did you choose and why?

I'm open to hearing both positive and negative experiences. I'm not looking for reassurance only — I'd really like to hear what happened to people with similar results.

To keep it rather short - I’m 32 years old and this is my first pregnancy. I did my NIPT bloodwork in my 10th week and got the results back which were abnormal for monosomy x (lab notes say suggestive of mosaic monosomy x). Our 12 NT ultrasound showed a 9mm NT reading and we met with a genetic counselor who suggested an amniocentesis (due to the suggested mosaicism by labcorp) and early anatomy scan at 16 weeks. I just had my regular OB yesterday at 13 weeks and she had a normal heartbeat in the 160s, so she’s still hanging in for now!

My question here is: is there anything you wished you asked at your early anatomy scan? The last couple of weeks feel overwhelming in terms of information I’ve learned and I want to be able to approach this appointment informed and with some good questions ready to go.

Anyone with similar test results with personal outcomes (good or bad) would be appreciated as well - I’ve read a lot on here so my thoughts are all over the place. Thank you!

Early in my pregnancy, I received a low risk result for all the trisomy conditions (1/10,000 risk).

My daughter was born (June 8, 2026). Born at home at 37 weeks. Birth weight was 7 pounds. Head circumference was 34 cm. Apgar score was good. My care was managed by a midwife (CNM).

At the first visit, my pediatrician suspected my baby has down syndrome, and was confused that I received a low risk result from the NIPT. We got her tested at the Rare Disease Institute and should know the results this week or next.

She has the down syndrome look in her face (flat face, flat nasal bridge, tongue sticks out a lot, frontal bossing). She doesn't look like my other daughters. She has complete AVSD heart condition, which is strongly associated with down syndrome. But she does have good muscle tone. Sydney crease in the hands (not the single crease). Maybe a slight sandal gap? Ear positioning is normal.

On the 20 week ultrasound, she had a short radius, ulna, and femur bones. Described as slightly small for gestational age. The ultrasound tech asked if my husband was short. This should have been a red flag considering my husband and I are 5'8 and 5'11. Nothing else looked abnormal on the anatomy scan. The doctor who signed off said he didn't anticipate there being any problems.

However, they could never get a good view of the heart on any of the ultrasounds due to fetal positioning. We didn't know she had a heart condition until AFTER she was born, the pediatrician spotted a heart murmur and referred us to a cardiologist who diagnosed it. The cardiologist was surprised we got a low risk result for down syndrome.

I would love to hear anyone else's experience on this.

Hi all!
I am freaking out.
At our 13 week scan we were given a 3.9mm measurement. Clear NIPT at 10 weeks. We have had to wait 3 weeks for 16 week scan and amnio which was today. The OB said he thinks the left side of the heart may be a slightly smaller than the right but he can confirm or diagnose due to the heart being too small and baby was chest down the whole time. My mind and rabbit holing is going to worse case scenarios. HLSL etc. has anyone had a similar experience and it been okay? We have to wait another 4 brutal weeks for the 20 scan.

I’m looking for anyone who has had a similar experience with isochromosome 21 / mosaic trisomy 21 on CVS followed by mostly normal amniocentesis results, particularly anyone who was ultimately diagnosed with confined placental mosaicism (CPM).

This has been an incredibly stressful and confusing pregnancy, and we’re currently waiting on the final microarray while trying to understand what the results so far actually mean.

Here is our timeline:

12w5d ultrasound
NT was 3.56 mm
Nasal bone present
No other abnormalities noted

NIPT
Low risk for trisomy 21
Because of the slightly increased NT, we proceeded with CVS.

CVS FISH
Normal female result
Normal copy number for chromosomes X, 13, 18 and 21
Initially tested 100 nuclei, and I was later told the CVS FISH was re run on approximately 500 cells
No trisomy 21 detected

Then came the unexpected result:
CVS karyotype
46,XX,i(21)(q10)[15]/46,XX[5]
So 15/20 cells showed an isochromosome 21 and 5/20 were normal.
The report interpreted this as mosaicism for an isochromosome 21, resulting in trisomy of the long arm of chromosome 21.

We subsequently had CVS genome sequencing, which also detected i(21) mosaicism at approximately 20–21%.

At that point we were obviously very concerned about mosaic Down syndrome, but we were told that because CVS samples the placenta, this could potentially represent confined placental mosaicism (CPM) and that amniocentesis would be needed to better assess the fetus.

Amniocentesis
The amnio FISH came back NORMAL.
The report showed a normal female result with normal copy numbers for X, 13, 18 and 21 in all tested nuclei.

We were hopeful, but then the full karyotype came back:
46,XX,i(21)(q10)[1]/46,XX[104]
So:
104/105 metaphases were normal female cells
1/105 metaphases contained i(21)
The lab notes that two trisomy-21 cells were actually identified within the same colony from one culture
The other cultures/colonies were normal
No other consistent chromosome abnormalities were found
The lab specifically commented that because i(21) had previously been identified on the CVS, the amniotic-fluid finding should be carefully correlated with the CVS.

So this is where we are now.
The discrepancy is huge:
CVS:
15/20 abnormal by karyotype
~20–21% mosaicism by genome sequencing
Amnio:
Normal FISH
104/105 normal metaphases
Only one abnormal metaphase, with the two abnormal cells confined to one colony from one culture
Our fetal imaging has also been reassuring:
Nuchal fold at ~16 weeks: 3 mm
No other soft markers on the anatomy scan
Growth measurements have been generally appropriate
Fetal echocardiogram was normal
We are currently waiting for the GeneDx microarray on the amniotic-fluid specimen.

What I’m trying to understand
Has anyone experienced something similar where:
CVS showed significant mosaic i(21)/T21 → amnio FISH was normal → amnio karyotype found only one/few abnormal cells, particularly confined to one colony → ultimately diagnosed with CPM or had a healthy baby.

My MFM and genetic counselors have been great, but have limited experience in this situation. I’m pursuing a second opinion at Columbia at the moment. Mo

So at my 20 week anatomy scan they found he had an echogenic bowel. They also called and told me about him having a thickened nuchal fold (just 6.05mm they said). They also told me that his abdomen is measuring big for his gestational age. Also he’s estimated to be 15oz already. It’s kindof a blur now with all the stressing I’ve been doing but I think they also mentioned his femurs being a little shorter for his GA? But anyways all of my NIPT testing came back normal. I have another ultrasound Friday for them to look at some more stuff and see what a high risk specialist thinks.

hola, me gustaría contarles un poco de mi historia , de mi primer embarazo hasta ahora el cual venía viviendo con tantísima ilusión y de un momento a otro todo se ha vuelto muy triste y complicado de sobrellevar han sido semanas muy estresantes, de muchas preguntas y pocas respuestas, la verdad me siento desconsolada.

tengo 27 años, estoy en mi primer embarazo con 19 semanas actualmente , y en la semana 13 con 2 días exactos me realizaron lo que se conoce como tamizaje genético donde unen eco + examen de sangre para hacer un cálculo y medir el riesgo para trisomias y rci o preclamsia

según el ecografía ese día mi bebé venía muy bien morfológicamente hasta el momento, nada raro, su TN 1.2mm tenía presencia de su hueso nasal todo correcto cosa que ami me tranquilizó mucho pero también me sacaron la muestra de sangre cosa que se demoró unas 2 semanas en llegar y yo toda feliz dije y pensé que puede pasar? todo está perfecto, me llaman y me dicen que los resultados salieron alterados y que como es un cribado donde se une todo tanto eco, datos y examen sanguíneo me arrojó riesgo medio de t21 de 1 en 730 y riesgo alto de RCI 1 en 55 de restricción de crecimiento intrauterino más que todo por el resultado en sangre de unas proteínas que son de la placenta.

Yo sentí que mi mundo se vino abajo, es algo que jamás imaginé y justo en mi primer embarazo, me envían medicamento ácido acetilsalicílico 150 para el RCI por prevención, y me dicen que como el riesgo de t21 salió medio podía hacerme un ADN fetal en sangre materna pero que mi seguro de salud no lo cubría, decido con mi esposo hacerlo por particular que por cierto es bastante costoso pero aún así queríamos este súper tranquilos de que esto fuera un error del cribado, y nos llega el resultado de alto riesgo para trisomia 21 con un PVP de 94.06% la verdad desde ese día he estado muy deprimida 😔 no hay un día que no llore, aun teniendo mi eco bien que al parecer no me garantiza nada esto es muy frustrante

me vio el perinatologo materno fetal y me envió a realizar ya definitivo la amniocentesis que es el único examen 100% diagnóstico me lo harán en unos días, aún no me han realizado otro eco aparte del de la semana 13 donde todo estaba bien, y pues nada aquí en la eterna espera las que han estado o están en esta situación me entenderán, no se puede disfrutar el embarazo sin pensar que pasará? que haré? es muy triste todo.

le pido a Dios que ese resultado sea negativo y mi bebé esté completamente sana amén 🙏🏻

me gustaría saber de personas que hayan pasado o estén pasando por una situación igual o similar

Hi all, I have had the toughest 3 days of my life. I had an anatomy scan at 22 weeks, there were several soft markers for Trisomy 21. Echogenic foci (2) mild renal dialation, echogenic bowel, pericardial effusion and the most damning no nasal bone was present. This is my 4th pregnanc, never had this at any of the other scans. with that many soft markers it’s hard not to believe it couldnt be DS. I did do the NIPT and I’m waiting for those results but that’s still 7-10 out. I’m just wondering if any of you had these same markers or as many and baby turned out not to have any chromosomal abnormalities? Just looking for any little ray of hope here. Thank you

I’m at a complete loss for words right now, and I’m hoping to hear from people who have been through something similar.
My husband and I have been trying for a baby for 8 years, and I finally became pregnant this June. This baby is so incredibly wanted and loved already. Everything had been going well until this past Friday, when we received our NIPT results showing positive for Trisomy 18, with a reported PPV of 25.7% and a fetal fraction of 16%.
I was completely uneducated about T18 before this, and after reading about it, I genuinely felt like my entire world ended. I immediately called my OB’s office because I wanted an NT ultrasound as soon as possible.
Getting that ultrasound scheduled was an absolute nightmare.
My OB’s office has multiple locations, and I told them I would drive anywhere in Arizona to get seen. They eventually got me an appointment about an hour from home, only to text me and cancel because the provider called out sick.
I called back and pleaded with them to find me anywhere else. They scheduled me at another location an hour away. On Saturday, two hours before my appointment, they called and told me there wasn’t an NT ultrasound tech at that location.
At that point I was completely overwhelmed and honestly felt like I had to explain to the scheduling department that there was a real person on the other end of these cancellations who had just been told her baby might have a fatal condition. I told them again that I would drive anywhere.
Eventually, they sent me back to the original location. When I explained that the doctor was the one who was out, not necessarily the ultrasound tech, they suggested doing a televisit with the doctor after the ultrasound.
So we finally had the ultrasound.
Unfortunately, the experience itself was awful. The tech had very poor bedside manner, the ultrasound was physically painful, and she was very rough on my stomach. They were also having technical issues when I arrived, so she couldn’t access my chart or previous history.
At the end, she told us that the baby was measuring differently in different areas — some measurements were ahead and some behind.
We went to the car and started the televisit with the doctor. She told us that the ultrasound showed an NT measurement of 6 mm and that the baby was measuring approximately a week behind in some measurements. The ultrasound tech also documented that she couldn’t identify the nasal bone.
I’m currently 33 years old and 12w3d pregnant.
I don’t even know how to describe the devastation. This baby took us eight years to conceive, and now I’m sitting here wondering if I’m going to lose the baby I’ve wanted for so long.
Before the ultrasound, I was trying desperately to focus on the fact that my NIPT’s PPV was only 25.7% — meaning there was still a significant chance the NIPT was a false positive. I was holding onto that 3-in-4 chance with everything I had.
But after hearing about the 6 mm NT, the baby measuring behind, and the absent nasal bone, I’m terrified.
I’m seeing an MFM next and I know that NIPT is a screening test, not a diagnosis, and that we ultimately need amniocentesis to know for sure. We will not be making any decisions based solely on the NIPT.
But I need some perspective while I wait.
For those who have been through something similar:
Is there still reasonable hope that my baby could be chromosomally normal?
Could the poor ultrasound experience/technician have affected the NT measurement or other findings?
Has anyone had a positive T18 NIPT and concerning ultrasound findings that ultimately turned out to be a healthy baby?
What should I be mentally preparing myself for while we wait for the MFM and diagnostic testing?
I know nobody here can tell me whether my baby has T18, and I’m not looking for false reassurance. I just desperately need to know whether there is still something realistic to hope for.
This baby is so wanted and so loved.

Ps. Sorry for the book. I am just at such a loss and need to get this off my heart.

Hi all,

I’m needing some advice regarding my baby and their diagnosis of mild pyelectasis. This is in both kidneys, and was found at my 21 week anatomy scan. I know that it is more occurrent in males, however we have opted to not find out the gender of our baby.

I know the pyelectasis can be considered a soft marker for Down Syndrome, however I have done the NIPT test which was low risk, so the whole soft marker conundrum seems to be less of a risk factor, and the likely hood of Down Syndrome is still incredibly rare.

My obstetrician has been fantastic, and has reassured me a lot not too stress, but I’m still super worried based purely on my age, I’m 35, and how with age, chromosomal abnormalities are more likely.

I know I can do an amniocentesis but also understand the risk with that also.

I’m having another scan at 24 weeks (next week) to check on how the pyelectasis is progressing.

It’s just odd how I have this feeling to do the amnocentesis, but I don’t know if I’m literally over thinking it. I don’t want to risk the health of my baby neither.

Any advice/ previous experiences would be great!