Fetal diagnosis: Long-segment aortic arch hypoplasia + borderline LV hypoplasia — looking for others who’ve been here
My wife and I are parents to a 2 year old and we’re struggling for our baby #2 due in August. We have all the information, but what we need right now is to hear from real families who’ve walked this road.
Our story started at week 12 with an elevated NT scan — told 5% chance of something being wrong. We were in that 5%. Genetic panel came back negative for everything — Turner’s, Noonan’s, DiGeorge, Down syndrome. But the anatomy scan flagged the heart.
Our son’s diagnosis: Long-segment aortic arch hypoplasia with moderate isthmus hypoplasia (z-score -3.96), concerning for coarctation of the aorta, with secondary borderline left ventricular hypoplasia. The narrowing spans the ascending aorta, transverse arch, and isthmus — not a single spot. The LV is smaller than the right as a downstream effect.
It has progressed since our first echo. What was “watch carefully” is now “surgical planning is the priority.”
The plan: Delivering at MGH/Boston Children’s. Prostaglandin at birth, postnatal echo, NICU, and likely a comprehensive arch reconstruction. The open question is whether the LV is adequate for a two-ventricle repair — that determines everything.
Why we’re here: Since week 12 we have been on the wrong side of the odds every single time. It has made statistics very hard to trust. We know we’re at one of the best hospitals in the world. We know the outcomes are generally good. But knowing that and feeling okay are two different things.
We’d love to hear from:
• Parents who received a similar prenatal diagnosis, especially long-segment arch hypoplasia or CoA with borderline LV
• Adult survivors who had arch repair as newborns
• Anyone who simply wants to say “we’ve been there”
- any long term effects of surgery at such a young age
We’re not looking for false reassurance — just real stories. Thank you for being a community that understands what this actually feels like.