{Matters of the Heart}

A little past 20 weeks, I first met with the Maternal Fetal Medicine Specialist, Dr. G. He came highly recommended and I noticed in a local DS group I’d joined, that searching his name he’d popped up a couple of times, all with positive remarks. Michelle was our ultrasound technician that morning and she handled 80% of the appointment. She had a wonderful bedside manner and was both positive and informative throughout the scan. She was the reason this appointment was bearable; I need to make sure and thank her for that.

There were soft, medium, and hard markers:

1. thickened nuchal fold
2. shortened femur
3. shortened humerus
4. flattened facial profile, nasal bone absent

But obviously none of this news was a big shock…we already knew she has Down syndrome.

And then Dr. G came into the room to review screenshots of the scan, listened to Aria’s heart, and focused in on the chambers and valves of her little heart. It’s amazing to me how much we’re able to tell at just the halfway point. There’s so many intricate details to her organs, already developed.

Dr. G was in charge of delivering news; there are things that we needed to be aware of: 

• He reviewed how we learned news of Down syndrome. We had a brief talk about Positive Predictive Value of the NIPT. Let me be clear, with 99.9% accuracy AND the soft, medium, and hard markers, in addition to factoring in my “advanced maternal age”…PPV didn’t come into play for what we anticipated for Aria. She has Down syndrome.
• Then he educated us a little more about Trisomy 21 and how the placenta also contains that extra chromosome. There’s still a lot we don’t know about Tri 21 and how it affects the placenta, but what they do know is that in some cases there’s issues like intrauterine growth restriction, placental failure, placental insufficiency, etc. I specifically asked about delivering at 38 weeks after finding this specific study   In his opinion, delivering Aria earlier (even for instance with early signs of distress) would still ultimately lead to death. 

***At this point, I’m praying silently that I’m so thankful my OB Dr. F had already shared that in cases of fetal distress, he wanted to deliver early to give her the best chance of survival. Dr. F would be the one to deliver her anyway, thank you God!***

• Heart defects are also common in about half of all DS cases, but pediatric heart surgery isn’t something to be worried about since so many advances have been made. And then this segued into Scott’s nightmare coming true…

Dr. G told us how our Baby might be born with purple extremities due to circulation issues. And she might tire very easily and have a difficult time staying awake. Specifically, there was some sort of “Septal Defect” (I wrote down AVSD but I also heard him say VSD…my head was spinning a little at this point even though I was jotting down every bit I could). He explained about there was a gap in the wall, or what was also referred to as a “hole in the heart.” He wasn’t able to determine exactly where the hole was, so we’d schedule a fetal echocardiogram in a month to see if we could get a clearer look.

Aria’s heart, her life…it’s out of our hands, out of our control. 

But we know who is in control. And we call on our Lord. Psalm 30:2