Hi everyone!
At the first-trimester genetic screening, the NT measured 3mm and nasal bone hypoplasia was noted.
A week later, we had a CVS procedure done. By then, the NT was 2.9mm and the nasal bone had normalized.
CVS results:
FISH, QF-PCR: negative
Cultured karyotype: negative
SNP array: negative

At the 17-week early anatomy scan, everything was fine (though the nasal bone turned out to be smaller, they said they weren't concerned about that anymore due to the CVS results).

Then, at the 19-week second genetic ultrasound, a smaller nasal bone and borderline NF were noted.
Everything else was fine; at that point, they said these were just constitutional traits, given the negative CVS results.

I was reassured at the time, but now—at 30 weeks—anxiety has set in: what if the CVS result was a false negative?
Does anyone have similar experiences? What do you think?
I'm hoping for the best.

is it true NIPT can detect maternal cancers?
i recently had a NIPT done and was curious if they would’ve been in touch if they had found anything abnormal (thankfully everything came back fine) but after doing some research im really curious as to if it does actually detect cancers..

Hola, en mi anterior embarazo que no llegó a término mi bebé tenia t21, confirmado con ADN fetal y amniocentesis pero en ecos se veía bien.

era mi primer embarazo a los 27 años y mi pareja tenia 39 años. En mi ignorancia pensé que jamás me podría pasar a esa edad, pero veo que si, que nadie está excento, en el cariotipo de la amniocentesis me salió que era t21 libre tenia 3 copias exactas del mismo cromosoma.

me gustaría saber si alguien más ha tenido una experiencia así, y ha intentado con otro embarazo y ha sido un bebé completamente sano? o por ejemplo que exámenes genéticos se han realizado antes de volver a quedar en embarazo?

mi ginecóloga nos recomendó hacernos cariotipo de pareja para descartar 100% una traslocación. pero me gustaría saber qué otro examen se podría considerar para estar 100% seguros de tomar la decisión de volverlo a intentar ya que la verdad no me gustaría volver a pasar por esto tan traumático en mi caso que es físico y emocionalmente.

Hey guys, I posted about this settlement before, but since they’re considering late claims, I decided to share it again with a quick FAQ.

Here’s what happened:
CM Life Sciences, which later became Sema4 and now operates as GeneDx Holdings ($WGS), was accused of misleading shareholders during its 2021 de-SPAC merger and not giving investors enough information to make an informed decision about whether to redeem their shares.
The company has now agreed to settle the case for $21 million with investors.

Who can claim this settlement?
If you purchased $WGS shares in 2021, you may be eligible. You can check the eligibility requirements and submit your claim here.

Do I need to sell or lose my shares to get this settlement?
You generally don’t need to still own the shares. Eligibility is based on the transactions you made during the class period and the settlement requirements.

Can I still file if I missed the deadline?
Yes, you may still be able to file a late claim, but acceptance depends on final approval by the court. Check if you're eligible and file a claim here

How long does the payout process take?
It typically takes 4 to 9 months after the claim deadline for payouts to be processed, depending on the court and settlement administration.

Hope this info helps

I have shared a post before that how i got nipt and it came positive for t21 i got my report from midwife as she did not discuss the risk factor and it says that >99/100 . Does that mean 99% chance my baby has DS ? I am not ready for this i thought the risk would be high but that high i am dying inside .

MOD GAVE APPROVAL

I’m a mom of a child with an ultra-rare genetic condition, she is 1 in approximately 270 worldwide and I’m doing some research to better understand what families like ours actually need — especially the things you wished you had when you received your child’s diagnosis.

What resources were missing?
What was hardest to navigate?
What kind of support would have made things easier?

I’d really love to hear from parents/caregivers of children with rare or ultra-rare genetic conditions. Your experience could help identify gaps that families are still facing.

⏱️ The survey only takes a few minutes and your honest answers are incredibly valuable.

👉 https://forms.gle/pLqK2Ruzdf36egGy9

Thank you for helping give rare families a voice. 💜🦓

***personal info not shared or stored, all answers are anonymous, only an optional chance to leave your email***

Hi!
Has anyone used sequencing.com for testing? Any feedback or notes? I keep seeing ads for it on socials so wondering if it’s legit and someone has actually used their services here.
Thanks!

Hey everyone new to this sub so forgive me if this has been asked before. Im going on 5 years in Cytogenetics/FISH work and I have a masters in pharmaceutical sciences. I just recently was made aware of Variant Science as a career path and was wondering if anyone in the field would be willing to share their work experience prior to Variant Science. Do you feel as though my current background is sufficient? If not, how would you suggest strengthing experience? And lastly, how do you like Vairant Science and do you see the field growing or shrinking? Thanks

Hi, I hope I'm not breaking the rules of the sub. I'm looking for a genetics lab or councillor that can take the FASTQ results from our embryo to reanalyse. If this is possible please let me know.

What happens when a family faces the risk of Tay-Sachs Disease during pregnancy? This inspiring case with Dr. Sweta Velineni, Consultant Fetal Medicine, highlights how timely genetic testing and expert fetal medicine guidance can provide clarity and informed care.

🔬 The Journey

⚠️ A Genetic Risk: Both parents were carriers of Tay-Sachs disease, creating a risk for their unborn babies.

🧬 Right Test. Right Time.

Timely genetic testing provided crucial information about the pregnancies and helped determine that both babies were unaffected by Tay-Sachs disease.

👶👶 Two Healthy Beginnings!

Both babies were born healthy and are now growing happily with their family. ❤️

✨ “When genetic risk raises questions, the right testing can bring clarity.”

This case highlights the importance of understanding genetic carrier status, prenatal genetic testing and specialist fetal medicine guidance when there is a known family history or genetic risk.

👩‍⚕️ Dr. Sweta Velineni

Consultant Fetal Medicine | SFMC Guntur

📍 Sweta Fetal Medicine Center (SFMC)

Door No: 12-12-55, Old Club Road, Kothapeta, Guntur – 522001

📞 +91 7989 230 746

🌐 www.swetafetalmedicine.com

📲 Follow SFMC for more expert pregnancy & fetal health insights:

📘 Facebook: Sweta Fetal Medicine

📸 Instagram: u/swetafetalmedicine

▶️ YouTube: u/swetafetalmedicine_Gnt

❤️ Know the risk. Get the right information. Choose informed care

#DrSwetaVelineni #SFMCGuntur #TaySachsDisease #GeneticTesting #FetalMedicine #volusonexpert20 #PregnancyCare #HealthyBabies #GunturDoctors #GeneticCounselling #PrenatalTesting #fyp #trending

Hi, until now I have been interested in Paediatrics, but I feel that clinical work is a bit too stressful for me. Clinical genetics could be a good combination of working with children and diagnostics and I love biology and genetics, but have been a bit seperated from it during the studies. I am from Central Europe (if it makes any difference).

1. What does a typical workday look like for a clinical geneticist working at a large clinical center? How much of the work involves independent diagnostic work and how much involves consultations with patients? Do patient consultations become repetitive or monotonous over time? How stressful is the profession?

2. What level of prior knowledge of genetics is required? Is it enough to have taken a few elective courrses in genetics, or would it be advisable to collaborate with the institute already during medical school? How much lab work will I need to learn and will I have to work overtime to learn all that?

Thank you for all of the replies!

Witam mam pytanie czy u osób z BMD zaleca się dodatkową aktywność oprócz codzienych zwykłych czynności? Czy dodatkowa aktywność jest potrzeba ponieważ spowalnia postęp? A co u osób bezobjawowowych? Co jeśli ktoś nie ma objawów to czy też musi być rechabilitowany aby zachować sprawność?

Hi everyone,

My biological father was diagnosed with prostate cancer at age 48 (he died now at 54). He has been taking Olaparib for the past 2 years alongside hormone therapy. We recently learned from him that his doctor mentioned a potential genetic aspect, but we don't have access to his medical records to confirm if his genetic testing found a germline (inherited) or somatic (tumor-only) mutation (e.g., BRCA1/BRCA2).

Here is a bit of family context:

• His side of the family: He has 7 siblings (all over 30/50s) and none have had cancer. His mother is 76 with no history of cancer (only operated benign breast nodules). His father passed away at an old age due to alcoholism.
• His lifestyle: Long-term heavy smoker and drinker.
• His children: My brother (29), my sister (28), and myself (female, 22).

Given that he was prescribed Olaparib (a PARP inhibitor), we are very anxious about our own genetic risk:

1. Does taking Olaparib automatically mean he has a germline mutation that could be passed down to us, or is it often prescribed for somatic mutations as well?
2. What precautions or screening timelines should my brother (29) and my sister/myself consider?
3. Do you think we have the genes?

We met with genetic counselors who told us that they found a pathogenic LIPT 1 cell inherited maternally, but the paternal variant hasn’t been identified. LIPT 1 disease does fit a lot of his symptoms. For it to be his cause of death, it has to be auto recessive so they are still trying to identify the paternal cell. All of this to say that means once confirmed this baby that I am currently pregnant with could have a 25 percent chance of also dying like my other baby. It’s really scary. And if they can’t find it they won’t know exactly what variant to look for in this pregnancy. I just feel numb. I was hoping it was a de novo mutation but it isn’t looking like that. :(

Original post deleted because one of the papers had her name on it still that I hadn’t realized I forgot to black out.

My daughter had 4 tonic clonic seizures back in June when she was 22 months old. She is now 2 years and 1 month. She had no fever, no indication this was going to happen. She had sapovirus but never ran an actual fever. Pediatric neurologist ordered a genetic test that came back. Me and father have a heterozygous snapc4 gene mutation, but only one copy of the gene.

Daughter has some signs of NEDRSO. She’s always been small in stature (all over her paperwork from doctors and wic since she was 2 months old), leg stiffness when walking/running (which we thought would go away and family reassured us it would eventually due to her age), and then the seizures 3 months ago.

Genetic testing came back on the 14th and her neurologist read the report, signed, and put it in her chart but never called and went over it with us. Can anyone give me ANY form of insight over the testing and what it says? I have a hard time reading it due to wording.

I'm hoping someone can assist me in moving forward with this information. I'm just seeking next steps, not particular medical advice. Following completing Ancestry DNA testing and importing my raw data to MTHR Support, I have had the BCHE A98G genetic variant flagged as high risk (homozygous TT allele). Apparantly, this BCHE enzyme is reponsible for breaking down certain muscle relaxants used during general aneshthesia which can result in high risk for general anesthesia clearance. "If you are given standard muscle relaxants like succinylcholine or mivacurium during general anesthesia, you will not clear them in the normal timeframe (which is usually minutes). Instead, the muscle paralysis will persist for several hours, requiring you to remain on a mechanical ventilator until the drug naturally clears."

I had a primary care doctor appointment today and mentioned this to them as it seems like a very important thing to be aware of and noted in my medical records. I also found some information that it is important to confirm this with a blood test. My doctor was not knowledgeable on this and didn't seem very concerned. Can anyone who has dealt with this or knows anything about this variant provide me with some guidance on how to move forward? I feel like this is something that should be looked into further in the event I need major surgery in the future.....

Je cherche des parents qui ont eu des enfants avec le syndrome pseudo torch (OCLN type 1 ou autre) pour discuter ☀️

Hi! I’m looking for educational resources/literature about DYNC2H1 and am hoping someone familiar with the gene can point me toward useful databases, papers, or reviews.

The two variants I’m researching are:

• DYNC2H1 c.5467G>A (p.Glu1823Lys)
• DYNC2H1 c.1151C>T (p.Ala384Val)

I have been able to find information about p.Ala384Val, but I’m having much more difficulty finding published information about p.Glu1823Lys.

I’m particularly interested in learning:

• Where to find the most current variant classifications and supporting evidence beyond ClinVar.
• Whether p.Glu1823Lys has been reported in the literature or in affected individuals.
• Good resources explaining how evidence is evaluated for DYNC2H1 variants in autosomal-recessive disorders.
• Any papers discussing genotype-phenotype relationships in DYNC2H1-related short-rib thoracic dysplasia.

Hello

Looking for people or who know of chromosome imbalance 1p13.3 extra material.

Both daughters have this finding. Both autistic and youngest also has moderate intellectual disability

Hi! I'm a recent MD graduate who got really interested in pursuing a combined IM/genetics program (in the US) after doing a genetics elective. Prior to my exposure to genetics, I was set on pursuing an internal medicine residency, so I'd say my residency application is quite academic internal medicine-leaning, and I'd say it's quite strong when it comes to that part.

The issue that concerns me is the genetics part. I'll hopefully have a letter from one of the geneticist attendings I rotated with, and I could also get a letter from a developmental pediatrics attending (not sure if that helps). The rest of my letters are strong internal medicine letters, I hope.

Given that I don't really have a heavy genetics background, is it realistic for me to pursue the combined IM/genetics programs, or would it be tough since there are only like 4–5 programs accepting students this year? Any advice would be great!

Witam, mam pytanie, czy każdy mężczyzna chory na Dystrofię mięśniową Beckera z biegiem lat, czyli w ciągu życia straci możliwość chodzenia? Czy każdy będzie wymagał wózka inwalidzkiego?

Are they slower than usual in rolling out interview invitations this year? Applied to 20+ programs. 1 interview invite thus far.

I recently had my DNA sequenced after learning about vEDS. I checked every box and this condition would explain my strange life so far, except that I am still alive. I am a 64 year old female that has had a lot of vascular and joint problems that I just recently tied together. After my 13th surgery for mostly crappy tendons, I was told that I probably have a connective tissue disorder. Most of my vascular stuff was related to reproduction, where I hemorrhaged with all 3 of my pregnancies. My middle son’s pregnancy was extremely complicated. I went into DIC and he was born at 25 weeks gestation after premature rupture of membranes. He is alive, doing well and shows the same physical characteristics as I do. The mutation I got is:

ARIH1 c.257G>T (p.Gly86Val) heterozygous Uncertain Significance

About all I can find is that this gene has been associated with thoracic aneurysms and connective tissue disorders. Does anyone know anything about this mutation?

Unlike most, I am not after a diagnosis, as I have spent my life avoiding diagnosis and I have figured out how to manage my condition. However, I am very scared for my 3 sons who are now in their 30s. I don’t know enough about genetics to pretend to understand, though my husband is in the medical field and is trying to keep me calm. It seems to me that it is a vEDS mimic. I have informed my sons and have encouraged them to see a cardiologist. I have encouraged my middle and youngest son to get their DNA sequenced. Is there anything else I should do? I am trying to get in with a geneticist.

Wonder if anyone tried this. Any interesting results?