Genetic Testing

When we were in Houston we received genetic counseling, as I mentioned earlier. The reason we received counseling was because a fetus with heart defects can also have other problems. In some cases the problems can be very serious for the baby and they will not be able to survive even with the heart surgeries. In these cases the surgeries won’t even be offered. All they can offer the baby is comfort care which mean they will make it as comfortable as possible for the baby and give all care they can until the baby cannot make it any longer. Therefore we decided to do a NIPT test (non-invasive prenatal testing). It is a blood test that is drawn from the mother and is not at any risks for the baby and tests the DNA. We wanted to be prepared to face the worst if needed. The fetus was tested for trisomy 13, trisomy 18, and trisomy 21. This means that the 13^th, 18^th or the 21^st pair has a chromosome too much. Trisomy 21 is the most common and it means that the baby will be born with Down’s syndrome. Trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) are more serious and the baby are born with serious defects and cannot survive on their own. These babies will receive comfort care. We performed the NIPT in Dallas as we were in for another echocardiogram at the ultrasound specialist and the results came in after about a week. Our baby does not have a chromosome defect. He will have surgery on his heart in the end of February. All we have to do now is to decide what hospital we want our baby to be operated at. We are meeting with two more surgeons in Dallas to find the best alternative. We have been to another visit with the cardiologist in Dallas and my wife visits the ultrasound specialist once a week to make sure there are no fluid in the baby’s heart.