A mosaic result

We were told by our obstetrician that the results of the CVS, the test where a needle was inserted through my belly into the placenta, would be available within 48 hours. I went to work because that was more bearable than waiting by my phone at home.

We had the CVS on Monday afternoon. On Wednesday from about midday I was anxious, staring at my computer screen, staring at my phone, over and over again. 48 hours came and went. It came time for me to leave work, I picked up my son and went home. My husband came home. The 6pm news came and went. The evening came and went. We went to bed quietly, staring at the ceiling.

I knew Thursday was the day. It had to be. I took my son to gym as a distraction with my phone up my sleeve. No call. By 11.30am I was consumed by anxiety. My son was in bed and I sat on the couch. I rang the obstetrician’s office, “oh sorry he is really rushed off his feet this morning, there’s a woman in labour and he’s trying to get to the hospital and back for his appointments at the clinic. He’ll call you at lunch, around 12.30.” I asked if she could tell me the results, “oh, I’m the stupidest one here, I wouldn’t know what they meant even if I looked at them”. It seemed like I was being fobbed off. Why wouldn’t he give me a call to say everything was OK? I could only assume it was because things weren’t OK at all.

I forced myself to go to bed and woke up at around 12.20. I watched every single minute tick by until 12.30. His lunch was at 12.30, he would call me then. But he didn’t. I watched the clock until 12.45. And then until 1pm. And then until 2pm. And then until 2.15pm. I couldn’t take it anymore. I called back the clinic and demanded to know what the hell was going on and why no-one would talk to me. They said the obstetrician would call me as soon as he could.

The call came at about 2.30pm. BEP explained that the results, “were complicated.” We fell within the one percent of cases which produced an inconclusive result. One percent! I couldn’t believe it. BEP and his ****ing statistics. It was laughable that we could possibly fall within the one, two, three percent yet again.

BEP explained that around 53% of the cells in the placenta were normal, and the remaining 47% positive for trisomy 21. What did that mean? It could mean one of three things: the baby was fine (well except for the high risk of a heart defect), but the placenta would be much less effective giving rise to risks to the baby; the baby’s genetic makeup was the same as the placenta; or that the baby had 100% trisomy 21 chromosomes.

I asked what the odds were, he explained it was, “highly likely” that the baby had trisomy 21. I asked, “well, I am a lawyer, and in my world “highly likely” means 80 percent, perhaps 90 percent.” He explained to me that “highly likely” meant greater than 50 percent, but that he could not narrow that any further. He recommended that I talk to a genetic counsellor. “Fine” I agreed.

To obtain a conclusive result BEP explained that I would have to wait another two and a half weeks until 16 weeks to have an amniocentesis, and then wait a further 48 hours after that for the result. I imagined how big my belly would be at that time. I felt ashamed that the thought filled me with dread.

I gave up hope that day. I think I began to grieve. It was all too much to digest. It should have been the happiest week that we’d had in years telling our friends and family our wonderful news that our son would be a big brother. But it was exactly the opposite. I was so stressed, so anxious, so numb and devoid of happiness. And so angry. The odds were stacked so heavily against us. A 1/13 nuchal translucency reading. Brought down to 1/10 with the blood test results. 47 percent trisomy 21 cells present. And even if our baby didn’t have trisomy 21 it was at high risk for heart defects and premature birth, amongst a raft of other things. If our baby was born at 26 weeks with a faulty heart, it’s chances of survival would be slim.