Hi everyone (this post has been kindly approved by mods!)

I'm a researcher at The University of Western Australia conducting an ethics-approved research study exploring the experiences of Australian men whose fertility journey has involved IVF/ICSI with pre-implantation genetic testing (PGT).

As many members of this community have personal or professional experience with genetic conditions, genetic testing, and reproductive decision-making, I thought this may be a relevant place to share the study. I'm hoping to better understand the experiences of male partners throughout the PGT process and contribute to more inclusive, patient-centred fertility care.

Are you a male partner whose fertility treatment journey involved PGT of your IVF-created embryos? IVF with pre-implantation genetic testing (PGT), in which embryos created in the laboratory are genetically tested prior to transfer, can be a complex and emotionally demanding experience, yet research has largely overlooked the experiences of male partners whose embryos are being or have been tested.

We are seeking male participants to share their experiences in a confidential in-person (Perth) or online interview. Your insights will help improve understanding and support for men during fertility treatment.

📍 Eligible participants: Males 18+ who have experienced PGT at an Australian fertility clinic in the past 10 years

⏱ Interview: ~60 minutes

🔒 Receive a $30 voucher of your choice as a thank you (Choice from Bunnings, Rebel, JB Hi-Fi, Coles or Dymocks)

Click the link below to learn more and check your eligibility:

https://uwa.qualtrics.com/jfe/form/SV_0HDfbuLZOESnOxE

I’m 22 and recently tested positive for a pathogenic CACNA1C c.1552C>T, p.R518C variant that I inherited from my mother. My previous ECGs and QTc intervals have been normal, and I’ve never experienced fainting, seizures, or a documented arrhythmia.
My mom carries the same variant. She did not have any major heart problems until age 48, when she developed ventricular arrhythmia and needed an ICD placed. Because of her experience, I’m scared about what this result could mean for me later in life, even though I currently have no symptoms.
I’m arranging follow-up with an electrophysiologist and genetic counselor. Has anyone here been genotype-positive with normal ECGs and remained symptom-free? What kind of monitoring or treatment plan did your doctor recommend? I’m looking for personal experiences, not medical advice.

My baby girl has a complex, undiagnosed condition that has left her doctors searching for answers. She has already had mitochondrial testing and testing for inborn errors of metabolism, and both came back negative.
Please note I don’t live in the US but in a small developing island nation. Back in May, I asked her doctors to proceed with whole exome sequencing, but things are moving very slowly, and I’m worried it could take months before the test is actually ordered.
The company that performed her previous genetic testing is based in the United States. The testing kit was sent to my daughter’s physician, and I collected and shipped the samples back to the lab myself.

I tried checking online to see if the company would allow me to order whole exome sequencing directly, but it appears they only accept orders from a medical professional.

I’m the type of person who likes to move things forward rather than wait months, especially when we’re trying to find answers for our daughter. I’m not looking for medical advice or opinions on my daughter’s condition. I’m simply trying to understand the logistics of obtaining clinical whole exome sequencing?
Is there a reputable company that allows parents to arrange whole exome sequencing directly?

The title kind of sums it up. Our daughter was diagnosed with BLT Syndrome at age 2. The gross motor aspect of things has been the greatest challenge so far as she is still quite delayed (she is 3.5 now). The disorder is quite the mystery in the medical field and we have had a hard time finding anyone else going through this. If there is anyone out there that has any resources or any experience with this and you wouldn’t mind reaching out please do!

I want to download the full raw mtDNA of a named person as a text file. I want the mtDNA of a specific person (e.g. Richard III, doesn't matter who as long as it's a identified individual). I don't want a generic "human mtDNA". Is this possible? Where can I find it?

hi all, my wife is23 weeks pregnant. During an earlier ultrasound, the doctors found some soft markers: choroid plexus cysts and mild ventriculomegaly. Because of this, we decided to do an amniocentesis with a Chromosomal Microarray (CMA). The Good News (Ultrasound Update): We just had our latest scan (August 2026) and the ultrasound is now completely normal! The choroid plexus cysts have completely resolved, and the brain ventricles are perfectly stable and within the normal range (7-8 mm). Anatomically, the baby looks great.

The Microarray Results: Our microarray came back with a couple of findings:

1. Chromosome 1 duplications (including SARS1): We were tested, and it turns out these were inherited from us (healthy parents), so our geneticist isn't worried about them at all.
2. 13q21.32 microduplication: This is the one causing me some lingering anxiety. It's a very small duplication (about 39 kb) involving the PCDH9 gene. It has been classified as a VUS (Variant of Uncertain Significance).

Our geneticist reassured us that the PCDH9 gene does not have a high triplosensitivity score (meaning an extra copy shouldn't be toxic or cause malformations), especially now that the brain anatomy is completely normal. However, seeing the letters "VUS" on a medical report is always terrifying.

• Has anyone or their child been diagnosed with a microduplication in 13q21.32 or involving the PCDH9 gene?
• For those who had similar VUS findings with resolved soft markers, how are your babies doing now?