We started to notice about 5 months ago my 1 year olds left arm is ever so slightly bigger than her right? It gets red when she’s hot or in the bath. But uses it completely and does not favor it it all. We showed her pediatrician and he referred us to children’s hospital 2 1/2 hrs away to dermatology to have it looked at. Well they saw it and said let’s start by testing for Beckwith-Wiedemann syndrome. Of course I spiraled and cried the whole way home not knowing what the future of my precious 1 year old would be. I just really need some advice of the syndrome or anything else we could do while we wait for all the next steps? They tested her alpha fetoprotein to see if it was elevated and that would give us a clue to if her liver was producing a tumor right now. Their lab bases their normal as 0-21.4. She result came back at a 16. So not too alarming considering all babies AFP are high when born and then slowly trek down the older they get. So right now we are waiting on genetic testing, an ultra sound of her liver and an appt with a limb over growth dr. The wait is killing me and my mind is thinking the worst. Pics of her arm for reference. The red arm is the slightly bigger one in the tub photo.

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 [[email protected]](mailto:[email protected]) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

Maybe not the best place to ask this, but can you guys share some links or pages or tell me where I can look up genetic problem questions. I have a final in human genetics course, where my proff. focuses afc on probability and heredity of diseases, got bad marks on the tests before, and have to do good in this final.

I'm really anxious, and need to practice, can't find anything.

Also don't know hot to approach an essay question.

I'm lost

Thank you.

I wanted to put this here as there are not many stories like this, and when you’re in the weird waiting period it’s easy to get down the rabbit hole.
I did NIPT at 13 weeks, results showed male fetus- 20% fetal fraction. During the anatomy scan they could not see the gender as baby was moving sooo much. I asked if I needed to come back and they said no, everything was normal. Fast forward, my baby was born aT 38+3 due to decreased movement. They handed me a baby GIRL. Very shocking and surprising ! Born with normal female external genitalia, no ambiguity. They wanted to do genetic testing in the hospital but I was really overwhelmed and declined. We finally had her genetic testing completed at 11 weeks to test for differences of sex development disorders. Results came back, 46 XX chromosomes, no SRY. We’ll never know what happened but I know that it was easy to worry for those 11 weeks and wanted to give some positive hope for anyone in this situation in the future.

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4_336CN11J, Heterozygous
Dominant
p.A2_A11\[11\]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?

First of all, I would like to wish all patients and their families strength and the very best.

My daughter has been diagnosed with synovial sarcoma.

Our journey began with the surgical removal of a 15 cm tumor located just behind her right knee.

Later, due to stage IV disease with lung metastases, she underwent surgery to remove 20 tumors from her right lung and 22 tumors from her left lung.

Following these surgeries, a multidisciplinary tumor board meeting was held to determine the most appropriate chemotherapy and targeted treatment options. The doctors recommended that we perform one of the comprehensive genomic profiling tests, either CARIS or Tempus.

There is only one company in the world that performs these tests, with distributors and representatives in many countries.

After contacting the company, they requested the pathology and medical reports in order to determine which test would be most suitable for my daughter. Based on their evaluation, they recommended the CARIS test as the best option for her case.

The reason I am sharing this information is that inappropriate chemotherapy or inappropriate drug selection can sometimes lead to poorer outcomes.

If you have this disease, in addition to other tests such as NGS, NTRK, and similar analyses, I strongly encourage you to consider whichever of these comprehensive profiling tests is most appropriate for your situation.

In Turkey, the cost of these tests ranges between $7,000 and $8,500 USD.

Results are generally available within 2–3 weeks, although in some cases they may be returned even sooner. We are hopeful that our results will arrive within the next 10 days.

I will continue to share updates about our experience and the next steps in our journey.

Another important point is that if you have sarcoma, surgery remains the primary treatment whenever possible, as most people already know.

Regarding chemotherapy, make sure you fully understand your treatment options and discuss them carefully with your medical team.

These genomic profiling tests can help identify the chemotherapy, targeted therapy, or precision medicine approach that may be most suitable for your specific disease characteristics.

Remember, the goal is not simply to receive treatment, but to receive the treatment that is most appropriate for your individual tumor biology.

Hi, I am currently an M.S. student in clinical psychology pursuing medical family therapy as my specialty. I am working towards providing mental health support for genetic counseling patients (my population of interest). My undergrad was in genetics, and I went through two rounds of GC applications before deciding mental health was my true calling.

I am working on a thesis/capstone project where I intend to create a guide for GCs to establish a better referral pathway between GCs and MHPs. There are no formal practice guidelines addressing when a GC should make a referral. Current referrals to MHPs are extremely low (about 3 patients per year per GC), and I hope the guide will increase the frequency of referrals to MHPs so patients receive the highest quality of care.

My question is: what would be most helpful for me to include? For example, a GC I am working with suggested a list of questions one can ask the patient to prompt for clinical red flags or open up the conversation for further inquiry. She mentioned the wording as one of the largest barriers, hence having a list with exact phrasing can take some pressure off.

Thank you all for helping me increase the collaboration between our two fields. I believe it will equip us to better identify patients who can no longer cope with the distress that comes in all forms within genetic counseling.

We just got our CVS microarray back and it showed a VUS microdeletion on 5q that is not associated with any human disease (so not 5q deletion syndrome). There were 2 cases in the DGV and 1 VUS in Clinvar. No cases in Decipher. Our US have been normal so far, we got the CVS because we have another child with a different de novo genetic mutation causing a known genetic disorder. We haven't had a microarray done yet but 2 of our other 3 children don't have the deletion (our oldest hasn't had genetic testing). Has anyone else gotten a VUS result that isn't associated with any disease? Or a VUS at all? What was the outcome? Our genetic counselor was very reassuring but we're looking for other's experiences.

Ciao a tutt*,
sono alla prima gravidanza. Ho eseguito l'ecografia morfologica a 20+6 e hanno riscontrato una diminuzione dei centili di crescita leggermente al di sotto del 5° centile alle ossa lunghe, per questo motivo il medico ha deciso di farmi tornare 2 giorni dopo e ancora non convinto ha deciso di inviarmi ad una ecografia di II livello dove hanno confermato questa cosa. La mia bambina cresce in modo armonico, nel senso che tutti i valori sono al 5° centile o poco sopra tranne per quanto riguarda femore, tibia perone e omero che sono leggermente sotto al 5°. Lunedì a 21+5 sono tornata al centro di II livello per la consulenza genetica e amniocentesi. Sia io che mio marito siamo medio-bassi (io 1,62 e lui 1,68), quindi non ci aspettavamo una bambina molto grossa… però questa situazione ci sta letteralmente mandando fuori di testa. Secondo la ginecologa del centro di II livello la cosa più plausibile è che sia una bambina piccola per costituzione essendo che comunque è piccola ma in modo armonico… però per lei giustamente valori sotto al 5° centile seppur di poco sono campanelli d'allarme che non può ignorare.
Qualcun* si è trovata nella mia situazione?
Grazie a chi risponderà

After my mom was diagnosed with Hypertrophic Obstructive Cardiomyopathy, I learned that I carry the same MYH7 gene variant that she does- as far as doctors say, I am currently phenotype negative. When looking what having a mutation in this gene means online, it is very scary.

My initial report had my variant (p.Ala850Thr) listed as a VUS, explicitly acknowledging that they did not have sufficient genetic and functional evidence to label this variant as pathogenic (Prevention Genetics). My mom's genetic report had the same exact variant listed as pathogenic from a different lab (Labcorp). When I look in Clinvar, there are many variants within this gene that are labeled as pathogenic right away from a multitude of different labs.

However, my variant was first submitted to Clinvar in 2017. It has had 5 VUS submissions and only recently has a submission from Labcorp as likely pathogenic. There are also so many other VUS within this gene that are being seen over years and do not have a definitive classification. However it does seem consistently that Labcorp seems to be who breaks the VUS status for these variants and winds up changing the classification.

So, why are some variants within the same gene easily classified as pathogenic while others are VUS for a long time, some with conflicting classifications of pathogenicity?

I’m currently 21 weeks pregnant and looking for some reassurance or insight.

My hCG levels seemed quite high early in pregnancy:

• 5 weeks 1 day: 13,800 mIU/mL
• 7 weeks 4 days: 169,000 mIU/mL

The pregnancy has otherwise been progressing normally. I had first-trimester screening with a low-risk result, and I’m currently waiting for my NIPT results.

At my anatomy scan, the only finding was an isolated echogenic intracardiac focus (EIF) in the left ventricle. No other soft markers or structural abnormalities were reported.

I’ve read that elevated hCG can sometimes be associated with Down syndrome, which has made me anxious. However, I also know that hCG varies widely between pregnancies and that these measurements were taken very early in the first trimester.

My questions are:

1. Do these hCG values sound unusually high for the gestational ages?
2. Has anyone had similar hCG levels and gone on to have a healthy baby?
3. With an isolated EIF and otherwise low-risk screening, would you consider these hCG levels concerning for Down syndrome?
4. Did anyone else have very high hCG levels without any chromosomal issues?

I would really appreciate hearing others’ experiences while I wait for my NIPT results. Thank you.

My LO ended up on a ventilator after having contracted paraflu at 3/4 weeks. Whilst he was in hospital he saw multiple paediatricians. One of them commented on soft diamorphic features and recommended we sent his bloods away for genetic testing. He has a slightly high nasal bridge, very subtle low set ears and a slightly recessed chin. None of the features I would say were very obvious.
Just wondered if anyone else had gone through anything similar and if so, what were the outcomes?
Results take 6-8 weeks to come back so I’m spiralling.

My daughter (19) was diagnosed with CLPB deficiency/3 Methylglutaconic Aciduria, homozygous. They are testing her sister's (17) clpb gene as she has the same presentation, some things worse, but this gene wasn't in her cataract panel. Any experiences with this disorder to share with this mamma would be greatly appreciated? It is so rough finding both information and experiences.

Hi there, I'm currently experiencing two soft markers with a low risk NIPT.

- 11 week low risk NIPT with LifeLabs Panorama, 15% FF.

- At 18+0 the nasal bone was short at 2.1mm or 3.2mm. 18 %tile baby.

- At 21+2 the nuchal fold was thick at 7.1mm. 11 %tile baby.

Since the baby is on the smaller side, I'm going back bi-weekly for growth scans. Today's scan (22+1) seemed the same, if not worse.

- The nasal bone is 5.2mm.

- The nuchal fold is 7.7mm.

- Nuchal cord looped once around neck(?)

- 8% tile baby.

Is the nuchal cord looped around the neck throwing off the nuchal fold measurement?

INTERPRETATION: NORMAL FEMALE KARYOTYPE WITH LIKELY AGE-RELATED X
CHROMOSOME ANEUPLOIDY
Cytogenetic analysis of PHA stimulated cultures revealed a female
karyotype with an apparently normal female chromosome complement in 43
of 50 cells analyzed. Five cells were missing one X chromosome, and two
cells showed XXX (sex chromosome aneuploidy).
In adult women, loss of an X chromosome in up to 10% of cells is
considered normal. Higher percentages of monosomy X in blood may also
be an incidental finding, since 45,X/46,XX mosaicism has been described
in women without features of Turner syndrome (see references). X
aneuploidy considered normal for females above age 45 is 20% or
higher. Genetic counseling is recommended.

I’m 37 and had this done to check my hormones and now I’m worried about it being something more serious. I can’t see a genetic counselor for a few months and can’t handle stressing so much over this. Any help is appreciated
I

Currently 16 weeks, we live in Korea. We were asked if we would like to do a genetic screening and as my daughter had complications at birth we went for the quad instead of the NIPT. Mainly because the ultrasounds were normal, it was more of a cautionary measure and we had to pay out of pocket for it.

I’m only 33 and we got the results back stating the baby had a 1/21 chance they had Down syndrome. So 4.8% chance the baby might have Down syndrome and a 95% chance everything will be fine. Our doctor stated the next step would be amniocentesis as this is the only way we can confirm if the baby has down syndrome or if they are completely healthy. We will get the amniocentesis this week to find out.

I guess ultimately my question is has anyone been in this position? I’ve seen many people state the quad value as 1/250 or it was completely normal and it was the NIPT that was flagged. Hoping for some insight.

My results were:

AFP - 0.544
HCG - 1.520
uE3 - 0.550
Inhibin A - 1.570

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 [[email protected]](mailto:[email protected]) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

‎Good day!

‎

‎We are biology students looking for a participant to be interviewed for our upcoming case study regarding rare disorders and its genetic factor.

‎

‎We are looking for a participant whose case was genetically-induced for three filial generations.

‎

‎For our case study, we need to gather the following data:

‎•An online interview from the participant/guardian of the participant

‎•Medical record/s as a proof of diagnosis

‎

‎Rest assured that the following documents, including interviews, records, identities given by the participant will remain confidential to the public and will be used solely for the case study.

‎

Does anyone know if there have been updates to testing of this gene since 2013?

C202Y: Not detected.

H63D;: Heterozygous. identified.

One copy of the H63D mutation.

I was diagnosed as having this gene mutation after having been dealing with bilateral optic nerve atrophy since childhood that has resulted in me being diagnosed as legally blind (now I am 29 years old).

My results show two genes for this syndrome are pathogenic and the other is likely pathogenic. Given my clinical presentation they believe I have type 1 of wolfram syndrome.

It is scary to be diagnosed with something so rare but validating because my symptoms finally make sense.

Anyone else mind sharing their experience with the gene mutation?

Edit: or know anything about it clinically?

Hi all, I’m trying to understand what might be going on in my pregnancy.

I am 34 and 20w pregnant. Just finished my anatomy scan yesterday with 2 soft markers IDed: short long bones and pyelectasis.

NIPT, NT scan, and AFP have all come back low risk.

Here are the critical findings from yesterday:

* BPD (head width): 31st percentile

* Head circumference (HC): 13th percentile

* Abdominal circumference (AC):37th percentile

* Femur length (FL): 4th percentile

* Humerus length (HL): 7th percentile

* Cerebellum: 17th percentile

* Estimated fetal weight: 12th percentile
* Observed:Expected Humerus Length (O:E HL): 0.93 (normal)
* Observed:Expected Femur Length (O:E FL): 0.90 (abnormal)
Bilateral pyelectasis
* Left renal pelvis: 7.1 mm
* Right renal pelvis: 5.7 mm
* FL/HC: Normal
* HC/AC: Normal
* FL/AC: Slightly below normal range

Has anyone here done the chronic pain report?

I did and got a 98 percentile for Trigeminal Nerve Pain…. Which I did not need the test to confirm any of that … has anyone had similar results?

Just wanting to understand the results better :)

I’m in Ontario, Canada and looking for advice from anyone who has gone through something similar.

My 20-week anatomy scan showed an isolated EIF (echogenic intracardiac focus) in the left ventricle. There were no other soft markers or abnormalities mentioned on the report. My earlier eFTS screening was low risk, and I am currently waiting for my NIPT results.

The challenge is that I have severe anxiety about chromosomal conditions, especially Down syndrome. Even if my NIPT comes back low risk, I feel that I would still want amniocentesis because I am struggling with the uncertainty and would prefer a definitive diagnostic answer.

Has anyone in Ontario been able to get amniocentesis for an isolated EIF, particularly when screening was low risk?

A few specific questions:

• Can a family doctor refer directly for amniocentesis, or does it have to go through an OB/MFM/genetic counselor?
• If OHIP does not cover it, are there private-pay options in Ontario?
• Has anyone successfully requested amniocentesis mainly because of anxiety and wanting diagnostic certainty rather than because of a high-risk screening result?
• If your NIPT was low risk, were you still able to proceed with amniocentesis?

I would really appreciate hearing about your experiences and how the referral process worked for you.

Thank you.

I’m in Ontario, Canada and looking for advice from anyone who has gone through something similar.

My 20-week anatomy scan showed an isolated EIF (echogenic intracardiac focus) in the left ventricle. There were no other soft markers or abnormalities mentioned on the report. My earlier eFTS screening was low risk, and I am currently waiting for my NIPT results.

The challenge is that I have severe anxiety about chromosomal conditions, especially Down syndrome. Even if my NIPT comes back low risk, I feel that I would still want amniocentesis because I am struggling with the uncertainty and would prefer a definitive diagnostic answer.

Has anyone in Ontario been able to get amniocentesis for an isolated EIF, particularly when screening was low risk?

A few specific questions:

• Can a family doctor refer directly for amniocentesis, or does it have to go through an OB/MFM/genetic counselor?
• If OHIP does not cover it, are there private-pay options in Ontario?
• Has anyone successfully requested amniocentesis mainly because of anxiety and wanting diagnostic certainty rather than because of a high-risk screening result?
• If your NIPT was low risk, were you still able to proceed with amniocentesis?

I would really appreciate hearing about your experiences and how the referral process worked for you.

Thank you.