My high-risk pregnancy experience – A Down Syndrome diagnosis

The Journey Begins

Having had 3 previous miscarriages, I was nervously excited to fall pregnant naturally at 42 years of age. However, falling pregnant had never been my issue, maintaining a viable pregnancy was.

My previous miscarriages occurred in the 5 – 9 week period and so the early days were fraught with anxiety.

At 8 weeks, I experienced spotting while at work. I was in a meeting, experienced cramping, and went to the restroom to investigate. The spotting became quite heavy so I contacted my doctor who recommended attending the early pregnancy unit of my local maternity hospital.

At the EPU I was sent for an ultrasound and met with the registrar who was confident that the bleed was not significant and due to a clot in the womb. She indicated that I should rest and not worry.

Given my history, my concerns were not allayed and I immediately contacted a private obstetrician who specialized in high-risk pregnancies.

The obstetrician conducted her own ultrasound examination and noted that the blood clot was larger than the fetus and in danger of separating the fetus from the wall of the womb which would be fatal.

She indicated that the fetus’s chance of survival was 50 / 50. She suggested using IVF treatment to help the fetus grow whilst weekly scans would be required to monitor the clot.

The uncertainty of the pregnancy was very stressful, and I felt powerless to protect this baby that I so desperately wanted. I went to search up odds of miscarriage at each gestation week frantically.

We somehow managed to get to the 12-week mark and I started to relax a little as the baby outgrew the clot and became firmly established. At the 12-week scan the obstetrician was happy that everything looked good and offered a Harmony blood test given my age.

The Harmony blood test would test for Down’s Syndrome (Trisomy 21), Edward’s Syndrome (Trisomy 18), and Patau’s Syndrome (Trisomy 13).

She said she would phone me in a week with the results but that she expected no surprises.

The following week I received a call from her secretary to ask that I attend an appointment that evening with the obstetrician and to bring my husband. Immediately I knew there was an issue with the results and began frantically researching the syndromes tested for.

From my research, it appeared that Down Syndrome was the only non-fatal syndrome.

That evening, on a cold wet winter’s night, she confirmed that our baby had a 99% chance of Down Syndrome. We were relieved on the one hand that our baby had a good chance of survival but terrified on the other hand of what the future would hold. Neither I nor my husband had any experience with disability.

The obstetrician at this point indicated that we would need to decide on whether or not we wished to proceed with the pregnancy. She indicated that abortion rates in our area were 50% for this result.

But there was no decision to be made, we both said we wished to proceed without needing any discussion. She then offered us the sex of the baby, a little boy. We were thrilled now it all felt real.

However, the conversation turned back to the realities of the test result. While the result was a 99% chance of Down Syndrome it was not definitive. The only way to get a 100% diagnosis was through an amniocentesis which involves taking a sample of fluid from the amniotic sac by needle.

This procedure carries its risks with 1% of pregnancies ending in miscarriage due to the procedure. We decided we could not take the risk. We were determined to get our son over the line.

We learned that Down syndrome pregnancies were high risk and that babies could die of an electrical heart fault in the womb. Luckily, we had an expert caring for us from the beginning and she was acutely aware of all the risks.

My pregnancy was very closely monitored and we anxiously counted down the months willing our little boy to arrive safely into our arms.

At week 34 we were referred to the Children’s Hospital for a fetal echogram with the pediatric cardiologist. She was satisfied that our little man had no heart issues but would see us again after birth for a follow-up.

Toward the end of the pregnancy, I attended weekly fetal trace monitoring. My little man’s weight gain started to stall and the obstetrician noted calcification of the umbilical cord.

At 38 weeks she decided that the risks of proceeding with the pregnancy outweighed the risks of prematurity and scheduled an induction.

The birth process was relatively straightforward, I had an epidural and Mikell was born at five minutes past midnight on a summer’s night. As he was put in my arms, I could not believe that he was finally here, safe at last.

There was a palpable sense of relief in the room. The pediatrics team was on standby to check him and we thanked our lucky stars for the care we had received.

Here I am
Meet the Author

Since 2019, we have spent thousands of hours and thousands of dollars researching all things related to Down Syndrome and Autism in order to help Mickell reach his maximum potential. From Apps to products to therapes we have researched it and tryed it. We leave no stone unturned learning and sharing new things with you. Learn more about how our T21 Journey began, and why he decided to start this cereal blog. If you want to send Tony a quick message, then visit his contact page here.

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