After insisting with my gynae about prenatal testing, we finally got partial information about the nucal translucency. We initially wanted to start with the non invasive test through fetal DNA traces found in the maternal blood. Of course, he didn't know, wasn't sure if it was available, discouraged to opt for prenatal tests for our young age, despite we told him it was very important. We found out too late he was a pro-life gynae.
We booked our nucal translucency with the best sonographer in Messina and perhaps in Sicily, Lillo Russo. He became part of our story and our life with his immense sensitivity, care and passion for his patients he showed us.
The date was booked for the 31st of October, Halloween and the next complementary tests for the 2nd of November, the day of the deads, for which many jokes were made, many thoughts were held back from the superstitious.
I decided to have my mum as well during this scan, to avoid feeling like in the first scan. She was so happy and excited, but I wasn't calm and I told her that scans are never a 'visit of pleasure'. I don't know if this restlessness was due to my baby telling me something was wrong, my body sensing it.
We arrived and the sonographer made us feel so at our ease, speaking in English with Jonas, showing interest in him, including him in explanations of what we were seeing. Jonas was smiling, holding my hand for the whole 2 hours scan. He was finally talking about our baby proudly!
As for me I was finally releasing the tension, enjoying my 'redemption scan', seeing my baby looking like a baby, moving so much, jumping like a spring with her legs pushing on my uterus. I was finally feel happy and excited to be pregnant of my first baby.
The scan started and we identified few good markers, her nasal bone and one particular artery were present. We found out she was a girl and I was so proud, so happy about the idea of raising a wise, brave woman as she would have been.
Then the bad news started coming, veiled by the sweet words and phrasing of the sonographer who wanted to let us enjoy the scan and gather all the necessary information before worrying us. My mum in fact, left for work because she couldn't know this was going to end this way.
The fat behind her neck was a bit high, but he told us not to worry too much because often is just benign.
Then the second bad marker, her heart's tricuspid regurgitate, but even this could be nothing and everything.
Then the search for a better result of her venous duct, linking her oxygen supply from the placenta to the heart and brain. 'This is such a devil for us sonographers! We all hate this tiny duct, so hard to listen measuring just few millimeters!', 'She moves so much, she is a boss already, let's keep looking a bit more', external, internal examination, the hours were passing, his soft touch and sweet glance 'God bless you princess'. Jonas wasn't perceiving danger, he was still positive and smiling, I was dying inside. I knew those gestures and sings of danger our sonographer was showing all too well from my midwifery placements. Bad news were coming.
We waited outside for the result and after a while he left us in.
"Come in, come in dear. Things are not good.
I'm sorry to have to tell you this, but you will need all the truth to make an informed choice for your baby.
I highly recommend skipping the next non invasive exam and going straight to an urgent CVS (chorionic villus sampling). If the results are negative we will monitor closely your baby's heart until birth".
He spoke in English and looked both at me and Jonas. He explained us about all those markers and showed us the updated risk. For trisomy 21 1:4, trisomy 16 1:66, trisomy 18 1:99. The results couldn't show a value of the risk for severe or light heart diseases, which were another valid possibility with our markers. The results couldn't show a value of the total chances we had our baby would be 100% healthy, which was another possibility. He answered our questions and let us go home with his number ready for any question, refusing to accept any payment. He made a great gift to us, not only doing his job with the maximum care, but going further his duty, getting heart to heart with us, taking care of us emotionally and professionally like if we were his own sons. Jonas told me he realized then to be a father, that he was going to be responsible for his daughter and that she could have been sick.
The sonographer booked our CVS and kept in touch almost everyday to see how WE were doing and to keep our hope on.
The days until the CVS were full of fears, tears, in bed, not even getting changed from my pajama, isolating from people to avoid insensitive friends complaining about how shit was their lives for the guy who didn't answer to their texts. But they were also full of hope we were not the 1:4, that we were going to have a healthy baby, that we were going to be one of those many false positive results of the nucal translucencies.
They were still days with Jonas letting his hand on my womb before sleeping, letting a protection rune in secret under my bed, taking care of me and telling her: 'Hey you, I still love you, you know? You better be healthy!'.
The day before the CVS they scanned me again, but Ida wasn't in a good position and the new doctor wasn't bothering to wait and check better like Russo then she took his scans as a reference.
It was all useless for her, why should I worry about the risks of a CVS? If I start the testing I finish the testing! If I wanted the best for my baby why not to use the non invasive DNA test before? Now it was too late.
These were her words. And all the results Russo took on the scan was so useless for her! Why was I there, I was too young for being doing this! Bah, trisomy 21 risk of 1:4? Not even considered. Reasons for admitting me for the CVS the day after: Query trisomy 16, 18, nicely circled on the paper.
Trisomy 21 not even considered.
Ida Saoirse Scherer,
our first baby girl, who was born and died at 16+5 weeks on the 30th November 2017.
Resources about Termination for Medical Reasons
Sister-friend Emily writing for her first son Amari Regan (Fragile X Syndrome)
Katrina's blog for her second daughter April Rey (Trisomy 13)