Will my GP approve a Karyotype blood test?

[TruffleMama]

Hi all

My maternal aunt (my mum's sister) has Down's Syndrome.

I'm 36 years old and 13 weeks pregnant with my first pregnancy. The pregnancy was planned and we conceived naturally after trying for 13 months. I had never tried to conceive before, so have no known history of miscarriage etc.

I had a 12w 5d scan at the Fetal Medicine Centre two days ago. So far, everything appears as expected and the Doctor was happy with the nuchal translucancy measurements, nasal bone, heart rate/flow and my hormone test results. Our Harmony test results gave a result of

This should be straightforward and you'll be prioritised as a pregnant woman. I'll PM you.

This isn’t within the remit of your GP. If the fetal medicine consultant feels it is indicated, they should arrange it.

I don’t see how your aunt’s GP would be able to provide this information - she has the automatic right to confidentiality and if she doesn’t have capacity to consent this is tricky. Does she have a deputy appointed by the court of protection?

Absolutely agree with @Anaesthetist83. I’m a GP and I have no capacity to directly request this test - it needs to be done by the hospital consultant. I would have thought the fetal medicine consultant was exactly the right person to arrange it- not sure why she/he didn’t.

@Zhampagne

My mother and my other aunt have been registered as my aunt's guardian for some time now. They also now have power of attorney as unfortunately my aunt has developed dementia - so I believe they will be able to access the information from her GP if it is available.
Also, I know my aunt. She is one of the most caring and generous women you could ever meet.. before she developed dementia, had I had asked her for her permission to request this information from her GP, she would have agreed.

@Anaesthetist83 @vinoelle

Hmm.. the Doctor at FMC definitely didn't offer to arrange this for me, she suggested I speak to my GP to get referred for testing.

I have a telephone appt with my midwife in a few weeks.. do you think this is something she could arrange for me?

This doesn't come under the remit of NHS care, OP, so an NHS midwife is unlikely to be able to help. You will need to telephone your consultant's secretary at the FMC and ask their advice on accessing the test privately.

I had private karyotype test done last year at Create Fertility. They have a number of branches in London, I went to the St Paul's branch. Be aware it is expensive (think I paid around £350) and takes much longer than other tests. Maybe 2 or 3 weeks from memory? I would recommend ringing around all ivf clinics to get prices and timings. At the time Create was cheapest of those I contacted but that might have changed.

Just wanted to post an update..

We have not heard anything back from my Aunt's GP yet.

My GP retired last month, so I had my first ever chat with my new GP yesterday. He was very knowledgeable on the subject. He believes that when my aunt was born in the early 1960's, the hospital will have just assumed that her Down's Syndrome was caused by Trisomy 21, rather than checking for unbalanced translocations.. sounds like the medical world wasn't as advanced in this area back then.

Unfortunately, he is unable to arrange a karyotype blood test for me.

I did speak to a screening midwife last week. She has passed my contract details onto a geneticist who works within the maternity unit. She is going to call me at some time this week. The screening midwife said she had no idea if the geneticist will be able to offer me the blood test on the NHS or if I'll have to go private, but she did say that if I have to go private, the geneticist will be able to let me know some private clinics to contact

Hi OP.

This is a very very sensitive subject and I sincerely don't want to cause any offence, but if a diagnosis would have implications for your decision to continue the pregnancy then there is some urgency here. I think it is very unlikely that you will be able to access karyotyping on the NHS without previous losses so in your position I would proceed directly to private testing without delay.

Hi, my son has Down syndrome (T21) from my understanding translocation and mosaic Down syndrome are pretty rare. If your child having DS would change the course of your pregnancy I agree with the previous poster, you should contact a private clinic. If not I think your harmony test results should give you comfort that you have an extremely low chance of your child having DS x

A diagnosis would not change the course of my pregnancy. Down's Syndrome or no Down's Syndrome.. she is my baby girl and I can't wait to meet her!

My issue is.. (and I appreciate not everyone will relate or understand it).. I suffer from extreme anxiety which centres around having little or no control over a situation (not ideal for a pregnancy woman!).
It's the "not knowing" aspect of my dilemma that is causing me issues. All the while I don't know for definite about my baby girl's Down's status.. the more and more I go over and over it in my head. This leads me to doing something called "catastrophizing" where I constantly go over and over all the absolute worse potential outcomes for a pregnancy - to a point that my thoughts become completely irrational. It's mentally exhausting.
Although, I'm sure if I found out for definite what my baby's Down's status is.. my anxiety would shift on to another aspect of my pregnancy. It just so happens that Down's is the focus of it right now.

My midwife is aware of my anxiety and I have spoken with the maternity unit's antenatal consultant psychiatrist on a couple of occasions now. They are incredibly understanding and supportive.

I had a phone call from the hospital's geneticist this evening. She says that chromosomal testing would have been conducted in the 1960's. She has taken my aunts name and date of birth to see if she can find any such testing results (if they exist). She also reassured me that the likelihood is that my aunts DS is caused by Trisomy 21 and that an unbalanced translocation is very rare.