I'm 23 weeks pregnant with my first baby (a boy). When I first went to the doctor I mentioned that I was born with a VSD (which I was always told was no big deal, it closed on its own). My OB immediately decided that all my screenings should be handled through Maternal Fetal Medicine. We did the sequential screening and after the measurements and both sets of blood work, my risks were at 1/10000 for chromosomal issues. The first time we tried the level two ultrasound was at 18 weeks, the baby liked to sit as low as possible and at a very awkward angle, but everything we could see looked good, except they thought there was maybe something going on with the heart and that I had a single artery umbilical cord. They rescheduled me for four weeks later.
Thursday, April 22, 2010, we had our second attempt at the level- two ultrasound. This time the baby was up and about and we were able to get great measurements. Everything was measuring as normal, the baby's growth was slightly ahead of his estimated due date and we watched him practice breathing. The sonographer said she'd be back in just a minute because she needed to catch up with a co-worker. Then she came back, along with a genetic counselor and the doctor. They told me my baby had a heart problem, an A-V Canal Malformation with overriding Aorta. I've since learned that this same cluster of heart issues goes by several names including Endocardial Cushion Defect, Atrioventricular Canal Defect (AVCD), common atrioventricular canal (CAVC), AV Canal Malformation and Atrioventricular Septal Defect (AVSD). The doctor and the genetic counselor spoke a lot about down syndrome. The information page at Boston Children's indicates that 1/3 of babies with AVSD also have Down Syndrome (http://www.childrenshospital.org/az/Site521/mainpageS521P0.html). I also read that if the baby is NOT a down syndrome baby, the heart defect is usually more complicated.
We’re in for a long and complicated ride, with a steep learning curve.