Jacqueline’s story

After a long, difficult journey of secondary infertility, including a missed miscarriage, I finally got pregnant. Such a long-awaited little rainbow! We were anxiously holding our joy and excitement back, hoping to reach the 12-week scan and for everything to be fine.

Then we had a private NIPT test which was recommended by our doctor as I was of advanced maternal age. It took longer than I thought to get the results back. But then a call, ‘‘you are negative for trisomies but there was an incidental finding on chromosome 7. I am very sorry. The lab would like to repeat the test with a new blood sample to make sure it’s not an artefact.’’

The following weeks are a blur in my memory, but I will never forget the anxiety of potentially losing our baby and even worse, TFMR. The wait for the results was the worst. The closer to the day I should receive a result the worse I felt. My husband and I kept googling about a very rare disease where it was impossible to know what the outcome would be.

I spoke to ARC about TFMR and their experience with London hospitals. I had the feeling I could ask all the questions I couldn’t ask anyone else.

The second blood sample showed the same result and we were recommended by the geneticist and gynae to have an amniocentesis. That’s when I changed from private care to NHS for insurance reasons, and because the hospital came highly recommended for an amniocentesis. It was very difficult to find the right way forward with the NHS as my scans didn’t show any abnormalities. I always had to bear in mind that the condition associated with chromosome 7 could potentially only be diagnosed postnatally. But I needed to know if my baby was healthy or not.

While my husband was still optimistic, I tried to mentally prepare myself for the worst. I spoke to ARC about TFMR and their experience with London hospitals. I had the feeling I could ask all the questions I couldn’t ask anyone else.

At 16 weeks I finally had my amniocentesis and the consultant asked me “’are you sure you want to do this? I wouldn’t if I were you as your scan is normal.” But I had to know.

The wait again was the most horrific time, and then the geneticist called to tell me the baby has no disorder on chromosome 7 and that the genetic disorder was most likely confined to the placenta. I was unable to speak, crying for hours and couldn’t believe it. It took me weeks to feel confident and positive that everything would be fine and to tell my first born, being already six months pregnant, that she will become a big sister. In January I gave birth to a healthy little boy.

I am still so grateful of the support of ARC. It is so difficult to find guidance and information in such a situation. And of course, I sometimes think I wouldn’t have had all the above fears if I had skipped the NIPT test that I never did with my firstborn…