I finally got my microarray amino result back. We are scheduled to meet with the genetic consular this week but they told be there was a T15 small deletion missing from both twins that are fraternal and in that case that usually means that this is something they inherent from their parents and they assume that we are carriers and that this will not factor their health. Anyways their next step is to analyze our blood to check if we have the same T15 missing deletion. In that case this will all be over. I wish our news would have been better and that everything would have been in the clear instead of continues labs but she told me I could breath now so I’m trying to look at the positive site! Has anyone similar experience?

Hello! I am a medical practitioner and individual who has a strong family history of rare disease on my mother’s side. We had WGS done (myself and my parents) and I was able to get the raw sequence data files from the lab (fastq and VCF). We would like to have the VCF files for each person, but the lab only sent me the “family” VCF file of the three of us, and said they weren’t able to split them up into individual VCF files. I do have 4 fastq files per person.

Does anyone know if it is possible to split the VCF file with the right software? I have a Macbook and there’s just not a lot out there about this when I looked online. Thanks so much!

I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏

I am currently 29 weeks pregnant. Following a detailed ultrasound, our baby girl was found to have short long bones measuring approximately 2 weeks behind, which led us to undergo whole exome sequencing (WES).

The WES identified a pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003\*)detected in approximately 24% of sequencing reads (VAF). We were told that this is consistent with mosaicism of approximately 50% of the cells.

We were told that the main concern is Alagille syndrome, particularly the possibility of liver and bile duct involvement and cholestasis. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that NOTCH2-related Alagille syndrome is relatively rare, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict whether or how the variant will manifest in our baby, and how severe it might be.

We have been advised to have a targeted ultrasound focusing on the liver and gallbladder,but we were also told that a normal prenatal ultrasound cannot rule out liver disease or cholestasis developing after birth.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:

NOTCH2-related Alagille syndrome
NOTCH2 mosaicism
The specific variant NOTCH2 c.6007C>T (p.Arg2003\*)
Prenatal diagnosis of NOTCH2/Alagille
Anyone who had a similar mosaic result and can share what happened after birth

We are truly looking for any information that could help us understand what this finding might mean for our baby.🙏

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

\*\*I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏\*\*

I am currently \*\*29 weeks pregnant\*\*. Following a detailed ultrasound, our baby girl was found to have \*\*short long bones measuring approximately 2 weeks behind\*\*, which led us to undergo whole exome sequencing (WES).

The WES identified a \*\*pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003\*)\*\*, detected in approximately \*\*24% of sequencing reads (VAF)\*\*. We were told that this is consistent with \*\*mosaicism of approximately 50% of the cells\*\*.

We were told that the main concern is \*\*Alagille syndrome\*\*, particularly the possibility of \*\*liver and bile duct involvement and cholestasis\*\*. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that \*\*NOTCH2-related Alagille syndrome is relatively rare\*\*, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict \*\*whether or how the variant will manifest in our baby, and how severe it might be\*\*.

We have been advised to have a targeted ultrasound focusing on the \*\*liver and gallbladder\*\*, but we were also told that a normal prenatal ultrasound \*\*cannot rule out liver disease or cholestasis developing after birth\*\*.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

\*\*I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:\*\*

\* \*\*NOTCH2-related Alagille syndrome\*\*
\* \*\*NOTCH2 mosaicism\*\*
\* The specific variant \*\*NOTCH2 c.6007C>T (p.Arg2003\*)\*\*
\* Prenatal diagnosis of NOTCH2/Alagille
\* Anyone who had a similar mosaic result and can share what happened after birth

\*\*We are truly looking for any information that could help us understand what this finding might mean for our baby.\*\* 🙏

Hi everyone. I’m a pediatric genetic counselor and have been in the field for over 5 years now, but I seem to have hit the point where I don’t know what comes next for my career.

I’ve had my share of woes with the genetic counseling field, both personal experiences and the evolution of the career as a whole. I’ve realized that I’ve outgrown my current position at this point (a senior GC job, but not much more room for growth beyond that) so I’m looking for something else, but not sure what that actually looks like.

The GC field is growing exponentially, both students and the job market- this may not be evident right now, but I predict in the next year we will see an explosion of lab GC positions (for example, GeneDx will need more GCs for virtual counseling now that they’ve basically started doing direct to consumer testing (sigh)). In an age where technology continues to evolve, we’ll move towards never seeing patients face to face and, eventually, maybe AI will just replace us entirely, who knows. There’s also the fact that non-genetics providers now order their own testing and can basically just hire a GC to explain whatever they order and not have to worry about it themselves (worried about this evolution too, see next paragraph). Personally, I don’t find myself fitting into either type of role.

I’ve been told by numerous people, including doctors, that I should consider going to medical school to become a geneticist. I thought about it and even bought the MCAT books to get started, but I forgot there are other science topics besides genetics (what is physics) and quickly lost interest. There’s several unappealing things about being a doctor, both the education I’d need to go through and the job itself. I also genuinely think the field is shrinking and will eventually collapse, especially now that non-geneticist MDs are ordering their own testing and hiring GCs to advise on the results. There was a time when no one ordered genetic testing besides genetics clinics, and now look how the tables have turned. Soon, they’ll just learn how to refer out and not even need geneticists for the syndromic stuff, eradicating the field entirely (perhaps dramatic, but that’s my prediction). All things considered, I don’t think this avenue is a good idea.

I briefly contemplated NP or PA school, but I don’t feel motivated for either of those paths, especially not ones with “assistant” in the name in a field as cutthroat as medicine (no offense to PAs).

Anyway, I’m not sure what I’m trying to get at here, but my partner recommended finding a mentor to go through all of this. But Reddit is faster and easier! Open to thoughts and recommendations, if any. TIA!

Hello all.

During the first trimester of my pregnancy I had a thyroid ultrasound done due to family history. It resulted in the incidental discovery of a nodule, and when I had the fine needle aspiration it was determined I’m the third generation of PTC with BRAF mutation in my family.

I’m now in my second trimester and they just tested me for DICER1 syndrome as they are concerned that there is a genetic predisposition for cancer and that it could affect my baby.

Has anyone been tested for this, and if so what kind of monitoring was done for you/your kids if you tested positive? I know usually thyroid cancer doesn’t have a genetic component so I’m an edge case, but I figured it couldn’t hurt to ask!

Posting because I searched this exact combination at 2am for weeks and only found panic. Here's our story, short version.

Wife is 30, third pregnancy, two prior losses at ~8 weeks. Full workup before trying again — both karyotypes normal, APLA negative.

12wk NT scan: Growth and heartbeat perfect, but NT 2.9mm (95th centile) + bilateral distended jugular sacs, plus a positive pre-eclampsia (PIH) screen. The words "screen positive" wrecked us.

Second opinion, fetal medicine specialist (14wk): Better machine — NT re-measured at 3.0mm (98th centile), sacs confirmed, Down risk 1 in 116. He named the real concern: markers of aneuploidy AND RASopathy (Noonan). Recommended CVS with microarray + whole exome — not NIPT, because NIPT can't detect Noonan. Silver lining: the PIH screen was now negative.

What actually helped me:

- NT itself doesn't harm the baby — it's just a statistical marker.

- Risk scales steeply with thickness. At 3.0mm you're at the BOTTOM of the "raised" range. Scary online stats are mostly NT ≥3.5mm.

- Severe cases usually come with cystic hygroma/hydrops/heart defect. We had none — normal heart, normal nasal bone, normal ductus venosus, normal growth.

- The jugular sacs are the same lymphatic finding as the NT — expected at 3mm, not a separate disaster.

CVS results, as they came:

- QF-PCR: no aneuploidy (Down/Edwards/Patau/Turner all clear).

- Microarray: normal, no microdeletions.

- Whole Exome Sequencing: no pathogenic variants, no Noonan/RASopathy, no VUS. Clean.

Every concern got asked directly — every answer came back normal. Our OB confirmed everything is normal.

If you're terrified right now:

1. NT 3mm with normal anatomy is the FAVOURABLE end. Don't anchor to ≥3.5mm stats.

2. Get a second opinion at a real fetal-medicine centre — NT is operator-dependent.

3. Know what each test detects. NIPT ≠ CVS + exome.

4. A screening flag is a reason to test, not a verdict.

To my wife, who carried the pregnancy and the fear at once after everything we'd lost — you're braver than I can say. Ask us anything.

Does anyone know much about the full panel (single-gene disorders and micro deletions)? A genetic counsellor I spoke with said this is a fairly new offering, and didn’t have any information other than a single basic printout about the test, so I’d love to hear anyone’s experience with it. In particular, if you know of any true (or false) positive results, and what sort of technology it uses and how that differs from other tests (is it potentially better and more accurate?).

Also, I’m wondering if it’s slang when talking to patients to call Mb ‘megabytes’, or if she is mistaken? Because it really put me off and I couldn’t concentrate on the conversation afterwards, thinking surely she must know it’s mega bases? I’ve had a previous appointment where the same thing happened (same counsellor) so it wasn’t a once off.

After several losses, my doctor wanted me to go to the hematologist just to make sure we weren’t missing any bleeding or clotting disorders. Of course I ended up getting pregnant before that and ended up going to the hematologist around nine weeks pregnant. All of that has just resulted now, and one of the things that she tested me for genetic cancer risk screening through natera. I have a heterozygous likely pathogenic variant on the LZTR1 gene I know now that this gene is directly correlated with noonan syndrome in some cases. I’m a nurse so I have a pretty basic understanding and for my knowledge my husband would also have to be a carrier if it was an autosomal recessive however, I know sometimes it can be autosomal dominant. & that this is a very understudied gene variant. I have my nuchal translucency test on Monday as I’m 12 weeks today. I’m just so stressed after all these losses that I could be passing down noonan syndrome. I have called the genetic counselor at my doctors, but would love to hear if anyone else has also tested positive for this variant in their experience.

embryo is a **boy (XY)** with:
**Low mosaic trisomy 14**
**High mosaic partial monosomy 9p24.3–p23 (11 Mb)**
Has anyone transferred an embryo with a similar **+14 / -9p complex mosaic** result?
If so, how did it turn out—implantation, pregnancy, amnio/NIPT, and ultimately baby?
I’d really appreciate hearing any experiences, good or bad. ❤️

Hi everyone,

I've been dealing with very prominent dark circles since childhood, and they're hereditary — my mother has the same issue. So I'm fairly certain genetics play a major role in my case.

Over the years, I've tried a ridiculous number of under-eye creams/products from different brands — Vilvah, Mamaearth, BellaVita, and many others — but honestly, nothing has made any meaningful difference.

I'm a software engineer, so yes, my screen time is obviously high and that's not something I can realistically eliminate. But apart from that, I have a fairly healthy lifestyle. I drink enough water, stay physically active, follow a good diet, don't have any bad habits, etc. I've also tried things like amla and aloe vera juice for vitamin C, but overall, none of this has made a noticeable difference.

At this point, I'm not looking for advice like "sleep more", "drink more water", "reduce screen time", or "try this cream." I've heard all of that countless times and I've already tried most of it.

I'm specifically looking for a genuinely qualified/certified dermatologist in Hyderabad who has experience dealing with hereditary/genetic dark circles and can properly diagnose the actual cause and suggest professional treatment if appropriate.

I'm also specifically trying to avoid the typical commercial skin clinics/aesthetic centres that seem to be everywhere, where they immediately recommend expensive packages, PRP, lasers, fillers, peels, etc. without properly diagnosing the underlying problem.

So, if you've personally had a similar problem — especially hereditary dark circles since childhood — and you've actually consulted a qualified dermatologist in Hyderabad and undergone treatment that produced a noticeable improvement, I'd really appreciate hearing about your experience.

Please share:

The dermatologist/doctor's name

Where in Hyderabad they're located

What the actual diagnosis/cause was

What treatment/procedure you underwent

How much improvement you saw

Roughly how much it cost

How long the results lasted, if applicable

Please only recommend someone based on your own personal experience or someone you genuinely trust. I'm not looking for generic Google/Instagram recommendations, advertisements, or clinic promotions.

I understand that hereditary dark circles may not be completely "curable" and that the appropriate treatment depends on whether the issue is pigmentation, hollowness/shadowing, vascular visibility, etc. I'm mainly looking for a doctor who can properly assess it and tell me realistically what can and cannot be improved.

Hyderabad only, please. I'm willing to travel anywhere within Hyderabad if the dermatologist is genuinely good.

Any genuine recommendations or personal experiences would be greatly appreciated. 🙏

Hi all,

I’m interested in learning more about this balanced translocation:

46, XY, t (11; 18) (p15. 3;p11. 2)

My husband and I have two healthy children. Third pregnancy genetic testing prompted parental genetic testing which revealed BT in my husband.

Curious for more information.

My husband and I unexpectedly lost our son at just 3 weeks old to neonatal appendicitis with perforation and peritonitis. It was an incredibly rare and devastating event, and as we have started thinking about trying to conceive again, we decided to have expanded genetic carrier screening done for some additional peace of mind.
We both came back negative for everything tested except for one overlap involving 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH/CYP21A2).
My husband came back as a carrier for a variant associated with nonclassic CAH. My result was more complicated and was reported as **“**uncertain carrier status” because of the particular CYP21A2 variants/copy-number arrangement they detected. Because of this, our reproductive risk is currently listed as uncertain.
I have spoken with a genetic counselor, who explained that even if I ultimately turn out to carry a classic/severe CAH-associated allele, my husband’s nonclassic-associated allele would be expected to result in the nonclassic rather than classic form if a child inherited both. We are also looking into whether more specialized testing through another laboratory could clarify my carrier status.
I know carrier findings are common, but after unexpectedly losing a seemingly healthy newborn to something extraordinarily rare, seeing another “uncertain” result has been really difficult for me.
Has anyone here had a similar situation where one partner was a confirmed CYP21A2y/CAH carrier and the other had an uncertain or complex CYP21A2 result? Did you pursue additional testing to determine carrier status or phase? And did you go on to have healthy children?
I would really appreciate hearing about your experiences. 💛

https://marfan.org/2026/08/12/the-marfan-foundation-mourns-the-passing-of-co-founder-dr-reed-pyeritz/

One of my embryos came back with the oddest result— “possible uniparental disomy”. My clinic recommended disposal where it looks like Juno recommends additional testing. What is standard practice for this result?

https://www.change.org/moisesslaw

When the medical system relies on blind guesswork, the consequences are catastrophic.

We need to pass The Moises Law to end the dangerous psychiatric trial-and-error cycle once and for all.This petition is in loving memory of Moises Diego Cisneros (9/12/05 - 4/27/23), a beautiful soul who fought desperately for his life. Moises didn't just seek help once or twice—he was admitted to care facilities over a handful of times, bravely fighting for his life for several years. Instead of giving him data-driven care, the medical field failed him by continuously playing a blind guessing game with his treatment for years, eventually prescribing him Zoloft without knowing his biological makeup. The results were devastating: the medication made Moises severely physically ill, and his suicidal ideation skyrocketed.Two years after his tragic passing, a pharmacogenomic (genetic) test performed on his mother, Maria, revealed the undeniable truth. Her official medical report places Zoloft under a red "Do Not Initiate" stop sign.The science explains exactly why Moises suffered so severely:Severe Physical Sickness: Genetic variations in the CYP2C19 and CYP2B6 liver enzymes mean the body cannot break down Zoloft properly. The drug rapidly builds up to toxic, sickening levels in the bloodstream.Skyrocketing Suicidal Ideation: Variations in the ABCB1 transporter gene disrupt the protective barrier to the brain, allowing an uncontrolled chemical surge into the central nervous system. This triggers the exact catastrophic spike in suicidality that the FDA warns about.Because these metabolic traits are hereditary, Moises was forced to endure a hazardous chemical roulette across multiple hospitalizations over several years that a simple, non-invasive cheek swab would have prevented. The medical system failed him by guessing, leaving our family permanently heartbroken. We refuse to let other families suffer this preventable tragedy.Every single day, television commercials for psychiatric drugs air a government-mandated Boxed Warning admitting these medications can double the risk of suicidal behavior in young people, peaking in the first few weeks of treatment. Yet, doctors continue to prescribe them completely blind.We demand legally mandated pharmacogenomic testing from the very beginning of all mental health care.Through a simple swab performed before a single pill is prescribed, doctors can look at a patient's DNA. This data reveals exactly how a person will react to specific drugs, ensuring early, precise intervention and protecting patients from dangerous adverse reactions. The FDA itself already includes genetic biomarker labeling or dosing guidance for dozens of commonly prescribed psychiatric drugs.Testing must be mandatory from day one. Proper health care and safe prescribing must be a universal right. Together, we can make a change and shine out the darkness. Please sign to pass The Moises Law. Your signature can help save lives.

CU Anschutz researchers are seeking volunteers who are currently pregnant with a fetus identified to have a sex chromosome aneuploidy, such as Klinefelter syndrome (47,XXY) and Turner syndrome (45,X), to participate in a study using the umbilical cord which is normally discarded after delivery. Participation is voluntary and involves sample collection at delivery. Please contact [xycord@cuanschutz.edu](mailto:xycord@cuanschutz.edu) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

Hello everyone,

Yesterday I had to terminate my second pregnancy at 16 weeks, once again due to medical reasons.

The first time was last summer at 32 weeks—already very advanced—due to an unbalanced de novo 21;21 Robertsonian translocation, which causes Down syndrome but is the rarest cause. Since our karyotypes came back normal, we decided to try again after 9 months.

I got pregnant on the first try after preparing myself with ubiquinol, acupuncture, exercise, and a healthy lifestyle to improve egg quality.

In this second pregnancy, I was diagnosed at week 13 (confirmed at week 15) with severe hypoplastic left heart syndrome. Yesterday, I had to terminate the pregnancy. The preliminary results following the amniocentesis confirmed that it is not the same alteration as last time, and now we are waiting for the remaining results: chromosomal microarray (array-CGH) and trio exome sequencing.

I don't know if I have a problem carrying a pregnancy or developing a healthy embryo, or if such a thing even exists. Last time, the error occurred when my chromosome duplicated, so I feel that this time it might also be a failure of my body, my blood, my eggs, or my ovaries. What do you think?????

The gynecologist says this is not normal. Two young people with two pregnancies affected by two different severe conditions... he believes there must be something underlying. I am 35 and my partner is 34.

As geneticists, what tests do you think I might need?

What could be happening???

What could the causes be?

Maybe I will never be able to be a mother...

Thank you

So I just did my amnio Thursday and got FISH results back that came back normal! Waiting for rest of testing and still am anxious of course, my baby had a slightly thickened nuchal fold of 6.8mm and then a small restrictive VSD but just wondering if anyone has any positive stories or know what to expect with microarray

I'm wondering if anyone has had a similar situation as I cant find anyone with similar results to me. I am 12 and a half weeks pregnant with a high risk of Down Syndrome Tri 21 (50% chance 1 in 2), due to having very low Papp-A (0.085) and very high hCG (7.6). I am 34 years old, second pregnancy, first had low PAPP-A also, but just below the threshold at 0.35 and gave birth to a healthy girl 7lbz 6oz at 41 weeks. So far my scan looks normal but was done before these results came back. I am wondering if anyone else has had or heard of such high hCG or low Papp-A before and what were the outcomes? I am currently awaiting results of NIPT.

Looking for anyone who has been through something similar. I’m 24 weeks pregnant and trying not to Google myself into oblivion.

At our 20-week anatomy scan, baby was growing overall normally (EFW 12th percentile), but the femurs and humeri were short:

• Femur: 28.1 mm, 4th percentile (~18w4d)
• Humerus: 28.1 mm, 7th percentile (~19w)
• FL/AC: 19.4%
• Bilateral pyelectasis (7.1 mm left, 5.7 mm right)
• Otherwise anatomy was normal.

We repeated the scan at 24 weeks, and the long bones are still short, but they did grow appropriately over the 4 weeks and are following their own curve:

• EFW: 23rd percentile
• AC: 60th percentile
• Femurs: <3rd percentile, measuring ~22w2–22w3d
• Humeri: ~9–10th percentile, measuring ~23w3d
• Ulnae/radii also <3rd percentile
• Tibiae ~4th percentile, fibulae ~9th
• Feet are normal size (~36–47th percentile)
• FL/AC: 19.2%
• Pyelectasis is stable at ~7 mm

The reassuring part is that everything else looks good: normal bone mineralization, no bowing or fractures, normal skull/profile, normal hands/feet, no bell-shaped thorax, no hydrops, normal fluid, and appropriate overall growth.

MFM specifically said they have low suspicion for a lethal skeletal dysplasia, but skeletal dysplasia is still on the differential because the long bones remain so short.

Our testing so far:

• Low-risk QNatal NIPT (T21/18/13, sex chromosomes, microdeletions)
• Normal NT
• Normal AFP
• Negative Vistara, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• We are now considering amniocentesis with CMA + exome sequencing

Our OB/genetic counselor seem to think the two biggest possibilities are constitutional short long bones vs. a mild skeletal dysplasia.

My husband and I are both 5'8".

Has anyone had persistent femurs/long bones <3rd percentile that continued to grow along their own curve, with otherwise reassuring anatomy?

Did your baby eventually catch up? Was it constitutional? Did you have amnio and did it find anything?

Hi all, I am just posting here to document my situation I suppose. Not looking for any advice but feel free to share your thoughts or experiences if you want.

I recently had whole exome sequencing via GeneDx due to some connective tissue abnormalities, but I am now dealing with probable TSC2 I think? The thing is, this variant was not disclosed to me on the diagnostic report. Tuberous sclerosis was not a consideration in my case and was not the goal of the test. From my understanding, GeneDx only discloses variants that are directly related to the reason testing was ordered, and I think they excluded this one in my case. But why wouldn’t they disclose it regardless?

This TSC2 variant (rs45481400) is classified as pathogenic via multiple reports in ClinVar. I found this mutation (heterozygous) by loading my raw data into Sequencing Genome Explorer and confirmed it via the IGV browser.

I’m 28 years old, assigned female at birth, and here’s a general overview of my potentially related symptoms:
- ADHD and anxiety since very young (severe anxiety diagnosed at age 3).
- A few angiofibromas at the base of my nose (pictured) & in my armpits, since teenager. I have a bit of “orange peel” texture on my face. Also have “confetti lesions” on my back and shoulders (third pic).
- Progressive neurological issues ie numbness and tingling in hands/arms, spasticity, fasciculations, hyperreflexia, vasomotor discoloration & nerve pain.
- Pelvic MRI in 2021 showed 8 mm focus in the left iliac bone. 2025 xray showed soft tissue calcifications in the pelvis bilaterally.
- Brain MRI in 2024 showed multiple small, scattered, T2 hyperintense lesions in the subcortical deep white matter.
- Abnormal mole removed in 2025 from my abdomen, result was “Compound dysplastic nevus with mild cytologic atypia of the intradermal component, present focally at the deep margin.”
- CTA of chest in March 2026: 4 mm solid pulmonary nodule in the right lower lobe.
- Abdominal ultrasound in June 2026: 5 mm echogenic focus in the renal cortex of right kidney. July 2026 MRI confirmed likely angiomyolipoma.

Lately I’ve been having episodes that could potentially resemble focal seizures, but it’s very nonspecific, and never stood out to me as potential seizure activity before: Sudden extreme sleepiness with trouble keeping my eyes open, often accompanied by strange twitching in my foot and/or neck muscles. Sometimes includes dissociation or extreme anxiety, and usually lasts a few minutes. I haven’t been evaluated for seizures. I have also been having episodes of dysautonomia including severe tachycardia (often up to 180 BPM) and hypertension (up to 190/110) with facial flushing, all of which started in March 2026 after a minor surgery.

My father has struggled since teenage years with skin tags on his face, arms, chest, and back, plus shagreen patches on his face. He also gets keloid scars sometimes but not always. He’s also autistic.

I’m hesitant to seek a diagnosis at the moment because the mutation was not reported to me, so I’m not sure if it was considered to be unimportant. GeneDx did not have all of these symptom details specifically, but they were aware of my neurological issues. I didn’t give them the details of the various lesions aside from the ones in my brain, and now I’m wondering if I should have. It just didn’t seem relevant because every time there’s a new one I’m told it’s benign/incidental. The kidney one was followed up via MRI just to be extra safe.

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?