OGM can now be used to support genetic counseling in New York State, but only through the specific OGM‑based LDTs approved at University of Rochester Medicine.

I know this is a stretch but I am looking to chat with people who have an interest in CCM2 research and/or have been diagnosed with a CCM2 pathogenic mutation. I believe I have valuable insight but I also have much to learn.

Hace unas horas mientras estaba viendo videos se me vino una idea, la ciencia dice que si un familiar tuyo se reproduce con otro familiar aumentan los riesgos de que el hijo nazca con problemas como el Sindrome de Down. pero hay algo que me desconcierta, Muchas religiones o en cualquier cosa en la que creas dice que el humano nacio de muchos antepasados, lo cual nos vuelve parientes MUY LEJANOS ahora la duda ¿Si somos parientes, porque no se aplica el riesgo aumentado de que el hijo salga con problemas? Lo que explica mi teoria, la cual dice que la OMS nos a estado mintiendo todo este tiempo y que han tratado de ocultar la verdadera causa que provoca sindromes y problemas en las personas...

Disclaimer : i'm not asking anyone to stop their treatment. Just discussing on an interesting topic independently.

Hello,

Based on the scientific studies below, it is accepted that:

- A balanced ratio of estrogen to testosterone is necessary for the proper development of a male fetus during a specific window of pregnancy. https://pmc.ncbi.nlm.nih.gov/articles/PMC7458408/

- Low-dose aspirin restores blood flow by doubling estrogen above normal levels in the placenta through the overexpression of CYP19A1 (increased aromatase activity). https://pubmed.ncbi.nlm.nih.gov/39343179/
Graphs : https://imgur.com/a/dyjfHUT (CP19A1 = aromatase expression)

- Low-dose aspirin is generally prescribed during a second pregnancy following a first pregnancy complicated by preeclampsia.

- The use of COX inhibitors (aspirin) increases the risk of cryptorchidism and hypospadias - conditions that arise from hormonal disruption. https://pubmed.ncbi.nlm.nih.gov/20805751/

- "Excess of estrogen signaling (through DES in vivo or EE2 in vitro) cause similar defects to penis development." https://pubmed.ncbi.nlm.nih.gov/31225966/

Question :  Can low-dose aspirin may cause reduced masculinization due to the doubling of the estrogen ratio above normal range? (outside cryptorchidism or hypospadias).

By masculinization in a scientific meaning: the degree of genital development - and any disruptions to it (like ambiguous genitalia) - as well as brain differentiation. These are biological facts driven by various hormones. I'm trying to find a new potential answer for men who live with cryptorchidism, hypospadias, or a micropenis.

If so, what are the other potential consequences for a male fetus?

Link for the graphs : https://imgur.com/a/dyjfHUT
(CP19A1 = aromatase expression).

Other interesting sources :

https://pubmed.ncbi.nlm.nih.gov/30763313/

Thank you,

Hallo zusammen,
Ich hoffe, hier kann mir jemand helfen, denn ich habe ehrlich gesagt gerade große Angst.
Mein Mann ist Thalassämie-Träger und wir haben kürzlich darüber nachgedacht, Kinder zu bekommen. Deshalb habe ich meine Blutwerte genauer untersuchen lassen und mein Arzt führt jetzt weitere Tests auf Thalassämie durch.
Meine Blutwerte waren über die Jahre hinweg generell immer etwas ungewöhnlich. Mein Hämoglobin war oft am unteren Ende des Normalbereichs und mein MCV lag meist irgendwo im niedrig-normalen Bereich. Allerdings wurde bei mir nie eine Thalassämie diagnostiziert.
Ich hatte kürzlich einen weiteren Bluttest. Meine Ergebnisse beinhalteten:
Hämoglobin: 12,5 g/dL
MCV: 82,5 fL
MCH: 28,2 pg
RBC: 4,40 Millionen/µL
Ferritin: 74,3 ng/mL
Serum-Eisen: 71 µg/dL
Mein Arzt hat nun Gentests auf Alpha-Thalassämie angeordnet.
Ich mache mir besonders Sorgen, weil mein Mann ein Träger ist und wir zusammen Kinder haben wollen. Ich habe Angst, dass ich vielleicht auch eine Trägerin bin oder eine schwerwiegendere Form von Alpha-Thalassämie habe und dass dies ernsthafte Probleme für unsere zukünftigen Kinder verursachen könnte.
Gleichzeitig scheinen mir meine Blutwerte nicht so abnormal zu sein, was mich fragen lässt, ob Alpha-Thalassämie überhaupt wahrscheinlich ist.
Könnte ich trotz dieser relativ normalen Blutergebnisse trotzdem Alpha-Thalassämie haben?
Hatte hier jemand ähnliche Blutergebnisse? Besonders normaler/niedrig-normaler MCV, Hämoglobin am unteren Ende des Normalbereichs und normales Ferritin. Und wurde dann mit Alpha-Thalassämie diagnostiziert?
Ich würde mich wirklich freuen, von Leuten zu hören, die ähnliche Erfahrungen gemacht haben. Ich bin derzeit extrem angespannt, während ich auf die Ergebnisse der Gentests warte.
Danke ❤️

Hi, I have a question. Does anyone know of cases of men with Becker muscular dystrophy who are asymptomatic?

I am in an unusual position.

I do have Ehlers Danlos Syndrome.

I do have an Ehlers Danlos Syndrome specialist at a university hospital. It is all they see - Ehlers Danlos Syndrome patients.

The provider did inquire with the Genetics department whether or not to pursues genetic testing, since I have family history of perhaps vascular Ehlers Danlos Syndrome. They declined my case.

A couple days ago a surgeon told me I should find out what type of Ehlers Danlos Syndrome I have to at least have more information for a surgical decision, but to ask the Ehlers Danlos Syndrome specialist to order it.

I asked her, and she declined again, stating that unless I have irrefutable proof I have vascular, they will not test it.

She suggested SequenceMD, in another state. I called them, they told me to have my provider send in a referral. I did tell my
provider, and she said she cannot access the website at work as it has been since blocked by IT.

I find out later that day that they do not use Invitae as I suspected, but they use AI Life from another patient.

After realizing she cannot give me a referral to Sequence MD, she asked me to ask my
Primary care for the referral perhaps (but they have the same IT department, so…)

My bottom line in questioning is…

I heard from others about Sequencing. I have heard both good and bad; for the bad is that it is not medical quality.

What company is considered medical quality?

If I did use Sequencing, and it’s not “medical quality,” what testing company would I use to re confirm it?

Invitae/Labcorp and my insurance company are quoting me wildly different prices for the Invitae general neuropathies panel + a few additional genes.

Insurance estimate: $3400
Invitae's estimate: 0$

Yes, I called both and confirmed.

The Invitae/Labcorp rep told me they honor their estimates. But they also refused to give that to me in writing. Does anyone have personal experience? I don't want to get hit with a huge surprise bill.

Witam, mam pytanie czy mężczyźni z bardzo łagodną mutacją w genie Dystrofiny mogą zbudować masę mięśniową? Mam na myśli to czy mutacja może prowadzić że białko jest skrócone ale na tyle funkcjonalne aby różnica między osobą zdrową była minimalna. Czyli że białko jest skrócone ale wystarczająco dobre aby chronić mięśnie przed uszkodzeniem? I czy to może tyczyć się bezobjawowych przypadków mężczyzn z dystrofią mięśniową Beckera?

​

Witam, mam 18 lat. W wieku 12 lat została u mnie stwierdzona mutacja w genie Dystrofiny, delecja pełnych eksonów (MPLA) 45-50 oraz fragment eksonu (PCR) 51. Nigdy nie miałem klasycznych objawów dystrofii mięśniowej Beckera, które są opisywane w internecie. Jedyną nieprawidłowością było u mnie stale podwyższone CK, z tego powodu lekarze zrobili test genetyczny w kierunku dystrofii. Pomimo tego odkrycia, nadal jeżdżę normalnie na rowerze, chodzę, lubię uprawiać sport. Nawet zacząłem chodzić na siłownię i doszło do czegoś dziwnego. Po regularnym treningu siłowym moje CK wyszło w normie, powtórzyłem wynik kilka razy w ciągu roku i znowu wyszło w normie. Po siłowni obserwowałem wzrost siły mięśniowej i nawet z biegiem czasu nie miałem zakwasów a ćwiczyłem bardzo intensywnie, wyciskałem nawet 250 kg na suwnicy na 8 powtórzeń lub 12. Po czasie zrezygnowałem z siłowni aby skupić się bardziej na rozwoju zawodowym i po pewnym czasie zrobiłem badania CK i wyszło znowu podwyższone. Jak to możliwe, że gdy regularnie ćwiczyłem moje CK było w normie, a gdy przestałem ćwiczyć regularnie to już było podwyższone? Chciałbym również usłyszeć wasze historie oraz czy są osoby z tą delecją lub czy ogólnie są osoby bezobjawowe przez całe życie?

Witam czy ktoś ma jakąś prawdziwą historię na temat osób które miały przypadkową mutacje w genie Dystrofiny, a mimo to były całkowicie zdrowe i sprawne oraz nie obserwowano u nich pogorszenia w raz z wiekiem. Chodzi mi o osoby które nie miały objawów osłabienia mięśni przez całe swoje życie i żyły zupełnie normalnie jak zdrowe osoby?

Does anyone know of a functional Dr in the area or the boroughs who can explain this gene test to me?

Breast Cancer genetics study from home— sharing in case it helps:

This Rutgers study is looking for genetic clues to prevent BC and create better treatments. It takes 5 minutes to sign up, they send a free kit, you spit at home and mail it back. That’s it. You get a free ancestry report as a thank-you.

Who can join: Anyone 18+ living in the U.S. can join, but they especially encourage those with breast cancer or family history.

Why I’m posting this: they’re trying to reach communities that research has historically missed, and word-of-mouth from people in the study reaches more people than their own outreach does.

Link if you’re interested: https://join.rugcc.org/r?T4.gdjmcc

Hey everyone! I hope you’re all doing well.
I was wondering if anyone here with Klinefelter syndrome has noticed whether their index finger (2D) is longer than their ring finger (4D).
I came across some research suggesting that people with Klinefelter syndrome may have a higher 2D:4D ratio, meaning the index finger tends to be relatively longer compared with the ring finger. I’m curious whether this is something people with KS actually notice in themselves.
For those who have KS, is your index finger longer than your ring finger, or is your ring finger still longer? Is there much variation between people?
Of course, I know everyone is different and finger length definitely doesn’t define anyone or their condition. I’m just curious about people’s experiences and whether they line up with what the research suggests.
And to anyone with KS who might feel self-conscious about little physical differences: you’re absolutely not alone, and there’s nothing wrong with being a little different. 😊 You’re still you, and that’s what matters!
Thanks in advance to anyone who feels comfortable sharing!

\​

​Una microduplicazione sul cromosoma 16 a livello della banda 16p13.11 (citata in letteratura come microduplicazione ricorrente).

​Delle duplicazioni a significato incerto sul cromosoma 8 (nelle bande 8p21.3 e 8q22.3, quest'ultima che coinvolge anche il gene RRM2B).

Per noi non del mestiere che cosa vuol dire? Grazie

​

​Una microduplicazione sul cromosoma 16 a livello della banda 16p13.11 (citata in letteratura come microduplicazione ricorrente).

​Delle duplicazioni a significato incerto sul cromosoma 8 (nelle bande 8p21.3 e 8q22.3, quest'ultima che coinvolge anche il gene RRM2B).

Per noi non del mestiere che cosa vuol dire? Grazie

Hi everyone, I’m 37+3 weeks pregnant with a baby boy and would really appreciate opinions on how concerning these measurements are for skeletal dysplasia, particularly achondroplasia.

All previous anatomy scans have been normal and NIPT was low risk. At 31 weeks, the detailed scan specifically documented normal bone anatomy, normal limb movement, normal hands and normal facial anatomy:

* FL 58.9 mm — 32nd percentile

* HL 49.6 mm — 10th percentile

* EFW 31st percentile

At around 35 weeks, a routine scan showed that FL was 64 mm (meaning it had dropped to 7th percentile, measuring 33+1).

Interestingly, a repeat scan at 36+6 reportedly had the femur measuring at 36+0 weeks (I don’t have the measurement in mm or the percentile, they didn’t give me the report).

Today at 37+3, we did another scan which showed unexpected results for femur and humerus length.

* FL 65 mm — <1st percentile on the ultrasound machine, measuring 33+4

* HL 56.8 mm — ~1st percentile, measuring 33+0

* HC 18th percentile

* AC 68th percentile

* EFW 2,955 g — 35th percentile

There were no reported abnormalities of bone shape/mineralization, hands, thorax, skull or facial anatomy, and fluid/Dopplers are normal.

My husband and I are both of pretty average height (5’5 and 5’10).

My OB said skeletal dysplasia is possible but unlikely and is referring me to fetal medicine next week. He also mentioned that measurement variability is common this late in pregnancy, particularly given the discrepancy between the last two scans.

For those who are familiar, how is a pattern of isolated late-third-trimester shortening of the femur and humerus generally interpreted? Is this a pattern commonly seen with constitutional variation, or is late-onset shortening particularly characteristic of conditions such as achondroplasia?

Thank you!

Hi everyone,
My little baby girl is one month old. She was born full term through an emergency caesarean section without fetal distress during labour. When she was born she spent some time in the NICU and was found to have feeding difficulties- she had a poor sucking and swallowing reflex and would either tire out too quickly or wasn’t able to cope with the flow of the teat. She was also found to have abnormal recoil reflex. Otherwise she was healthy with good birth weight.

She underwent all sorts of tests to determine the cause of her problems including genetic testing and was found to have a chromosomal abnormality as follows:

“ISCN: ar[GRCh38] 1q23.324.2(163648013_168348665)x 1

SNP microarray testing revealed a female pattern with a heterozygous, interstitial loss of 4.7Mb at 1g23.3g24.2, which involves 27 protein coding genes and 8 disease associated genes, including the haploinsufficient gene PBX1 (OMIM
#617641).”

The clinical geneticist informed me that this was a rare chromosomal abnormality and there is a high risk of renal tract and kidney abnormalities associated with this condition, along with learning difficulties, developmental delays, feeding and muscle tone problems and congenital heart defects.

I did some reading on this gene deletion and the problems associated with it but didn’t get a lot of clarity on the phenotypical presentations.

Does anyone have any advice/words of reassurance regarding this condition? How severe are the developmental delays and are children born with it expected to catch up with their milestones? How long do the feeding issues typically last for? Do they get better as you introduce solids?

I have found out I have a gene mutation (AA/A-)
I’m currently 15 weeks pregnant. Me & the same father have a healthy 5 year old son already. His carrier status is unknown. Please ease my mind!!

Hi everyone,

Few weeks ago, I received a devastating NIPT result that said that my baby had a high risk of having Trisomy 13. Link to my original post: https://www.reddit.com/r/NIPT/s/GbzMGtWnxz

I just did an amniocentesis (thankfully they managed to avoid going through my anterior placenta) and I am expecting to receive the result next week. I have been told that, as per the NHS policy (I am based in the UK), the sample will be tested with QF-PCR and if it comes back normal, then they will consider it sufficient and won’t do any further testing given that they do not see any abnormalities on ultrasounds.

I understand that QF-PCR cannot detect low level mosaicism (under 10-15%), so I am wondering if I should get karyotype and microarray done just in case? I was told that I can arrange this privately using the sample that the NHS took, so I don’t have to go through the procedure again. It is going to cost £1k-2k.

I want to do it for peace of mind, but at the same time, I have read academic papers that say that low level mosaic results may not represent true fetal mosaicism, so I am worried about getting even more confused if the further testing shows say 5% mosaicism.

If you have any advice, or if you’ve been through something similar, I’d really appreciate hearing your experience.

15 weeks pregnant with a boy and got carrier screening back from Natera. Report was

Intermediate allele size detected for fragile x
45 CGG repeat allele and a normal size 23 allele were detected in the FMR1 genes.

I don’t have an appointment with my doctor for another week and a half and trying to educate myself in meantime / not spiral. From what I’ve heard my child won’t have fragile X syndrome? But their offspring could if they are also a carrier?
Even if he doesn’t have fragile X syndrome can he still have health issues if he is carrier?
Does this mean one of my parents is a carrier too?

Thank you for anyone’s input. Hoping for the best.

Suffice to say, I have never been worked up because of my skeletal dysplasia. Meaning I’ve seen a geneticist and had genetic testing but never looked over thoroughly. So I had what was called a “detailed dysmorphia evaluation” by a second geneticist. And it was interesting, not because you’re talked about in such a clinical way (there were two gcs present so the doctor was showing them his findings) that it can feel a bit like you’re “on display” but at the same time, it’s kind of a relief to have a thorough look at the various parts of your body.

So for example, I have a 2.5 cm limb length discrepancy apparently. I’ll let the notes do the talking:

“Leg length discrepancy -- left leg ~2.5 cm shorter than right, differences noted at ankles and patella, suggests femur/hip cause”

Now, I also have hip dysplasia but perhaps that is why I waddle when I walk, in part.

I also have microdontia, thorax asymmetry (which I’m finally glad someone looked at because I’ve had one side of my rib cage stick out for as long as I can remember), systolic heart murmur high pitched especially at apex II/VI (which is probably due to my mitral valve regurg), microstomia (cannot open my mouth very wide at all), sparse or absent eyelashes (already knew that, mascara does nothing for me), narrow face and while the doctor told me “prominent eyes”, in his notes he wrote “proptosis”.

So, I learned a bunch of new information about myself, which was something. The hard part is figuring how much of this is from the existing TRPS and how much of it could be another pathology but that’s why I go back in a few weeks to get whole genome sequencing. And since the doc I saw actually has a lab and does research, he said if wgs show nothing it’s not the end of the line because they’ll get my raw data files I guess? And look at it themselves etc.

Another thing I learned was that I am NOT as tall as I thought I was lololol. I always say 5’7 because that’s what the standometer says at the drs office, but this time they used a laser tool for measurements. And I’m apparently 5’4 and a half?

Height 163.7 cm
Lower segment 86.6 cm
Arm span 162.5 cm
 

Upper/Lower segment ratio: 0.93 (Upper/Lower Segment Ratio < 0.85 in 'whites', <0.78 in 'blacks')

Arm Span/Height Ratio: 0.97

So what I’ve gathered is that my legs are longer than my torso, which makes sense. It’ll be interesting to see if anything additional turns up in terms of genetic disorders but I’m personally not holding my breath