During a routine ultrasound at 23 weeks, we discovered that our precious baby has a severe congenital heart defect known as Aortic Stenosis: a narrowing or obstruction in the aorta. It is a fatal condition if left without intervention as it always develops into a more severe condition called Hypoplastic Left Heart Syndrome. As a result, we were rushed to Boston Children’s Hospital to undergo an in-utero operation to help stabilize our baby’s heart valve until birth. We are hoping that this procedure will help prevent a series of 3 open heart surgeries that would otherwise be needed if her heart had been left untreated during pregnancy.
No matter what, our baby will be born with a severe heart defect that will require surgeries either within the first few days of life or later on. We just simply do not have the answers right now as to when these surgeries will occur, as the variables are all still in play. During week 26 of our pregnancy, our amniocentesis results came back positive for Turner Syndrome. She is a mosaic case: 80% of her genes are missing 1 "X" chromosome. More tests after birth will help determine if she has any other symptoms of TS.
At 33 weeks, we discovered that we will most likely be delivering in DC and looking at a hybrid heart procedure immediately following birth. Links are posted below!
For your questions, please visit the following sites for more information on the conditions mentioned above:
Fetal Aortic Valvuloplasy (first page only): https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.9040
Fetal Aortic Stats: https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.13632
Boston Children's Hospital Study on FAV procedure: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299861/
Hyperplastic Left Heart Syndrome: https://www.cdc.gov/ncbddd/heartdefects/hlhs.html
Turner Syndrome: https://www.turnersyndrome.org/
Pulmonary Artery Banding: https://www.jhltonline.org/article/S1053-2498(16
Hybrid Therapy for HLHS: https://www.jtcvs.org/article/S0022-5223(15