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Will my GP approve a Karyotype blood test?

(13 Posts)
TruffleMama Sun 05-Jul-20 15:15:55

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 <1 in 10,000 chance of trisomy 13, 18 and 21.

However, the Doctor then threw a spanner in the works when she asked if my aunt's Down's Syndrome was as a result of Trisomy 21 (an extra chromosome 21) or as a result of an unbalanced translocation.

This completely confused me. I had never heard of balanced/unbalanced translocation before. I assumed all Down's Syndrome was caused by Trisomy 21.
The Doctor gave us a quick science lesson and explained that if my aunt's Down's Syndrome is as a result of Trisomy 21 (an extra chromosome 21), we need not worry as our Harmony test result was very low risk. But, if my aunt's Down's Syndrome is as a result of an unbalanced translocation.. it would mean I likely have a balanced translocation and my child could inherit either normal chromosomes, balanced translocations or unbalanced translocations. If she inherits unbalanced translocations.. she could have Down's Syndrome or other chromosomal issues.

The Doctor asked me to find out if my aunt's Down's Syndrome is as a result of Trisomy 21 or unbalanced translocations.

My maternal grandmother was 39 years old when my aunt was born. Gran passed away several years ago, so I asked my mum what she knows. Mum was only 6 when my aunt was born. She says all she remembers is that my grandmother was told that my aunt has Down's Syndrome because she has an extra chromosome.. which would indicate that her Down's Syndrome is caused by Trisomy 21.
However, my aunt was born in 1963.. I wonder if the medical world was even aware of unbalanced translocation Down's Syndrome back then.. and I wonder if they actually tested my aunt's blood to confirm she had Trisomy 21 Down's Syndrome rather than unbalanced translocation Down's Syndrome, or did they just assume she has Trisomy 21 Down's Syndrome because it is much more common?

I've done some research and apparently 95% of Down's Syndrome is caused by Trisomy 21. So the likelihood is that my aunt has Trisomy 21. But, I need to know for definite.

My aunt lives in full time supported accommodation due to number or severe disabilities and learning difficulties. She's a tough cookie though and survived pneumonia 3 years ago after the intensive care consultant had advised us prepare for the worst.
Mum spoke to my aunt's support staff on Friday and they've asked us to call back on Monday to speak to another staff member about requesting the necessary information from her GP.

If Doctor at the Fetal Medicine Centre said that if my aunt's GP is unable to confirm which type of Down's Syndrome my aunt has... I should speak to my GP to request a Karyotype blood test to establish if I have a balanced translocation.

I've read through several threads on MumsNet regarding balanced/unbalanced translocations and it seems the majority of people are referred for Karyotype testing as a result of suffering several miscarriages.
As my circumstances are different.. do you think my GP will approve a Karyotype test?

Does anyone know how long the wait is for Karyotype testing on the NHS? The Doctor at the Fetal Medicine Centre reckoned it wouldn't be that long a wait because I am pregnant. However, I think she was being optimistic.
Does anyone know where I can get private Karyotype testing in London? What is the cost?

Thanks in advance (and apologies for the mammoth post) xx

OP’s posts: |
Nohero Sun 05-Jul-20 15:20:14

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

Anaesthetist83 Sun 05-Jul-20 17:51:28

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

Zhampagne Sun 05-Jul-20 20:27:03

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?

vinoelle Sun 05-Jul-20 20:30:37

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.

TruffleMama Mon 06-Jul-20 10:28:45

@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.

OP’s posts: |
TruffleMama Mon 06-Jul-20 10:33:28

@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?

OP’s posts: |
ThanksItHasPockets Mon 06-Jul-20 10:39:05

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.

pjani Mon 06-Jul-20 11:04:26

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.

TruffleMama Tue 14-Jul-20 09:00:16

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

OP’s posts: |
Zhampagne Tue 14-Jul-20 09:10:06

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.

LBB2020 Tue 14-Jul-20 10:52:52

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

TruffleMama Tue 14-Jul-20 19:44:18

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.

OP’s posts: |

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