Our first ultrasound was done at 18 weeks, 6 days, on July 5th. The tech let us know at the end that we would probably be having another ultrasound done soon, but wouldn't tell us why. We got a call from a genetic counselor the following Monday, letting us know the concerns, and set the next ultrasound for July 12th.
What we found out
First, we're having a boy! We were hoping for a boy as we tried out many girl names and nothing felt right. Jonathan Alexander is his full name. Jonathan means gift from God and Alexander means Defender of men.
Second, the dr found some birth defects. She saw a bilateral (or double) cleft lip, a VSD (or hole in the heart) which causes blood vessels to not be in the right spots, clenched fists which causes concern for neurological and brain development, an omphalocele which means his intestines are poking out of his stomach in a sac, and 2 blood vessels instead of 3 in his umbilical cord. They also say that he will probably have severe mental disabilities.
The "constellation" of these findings points to something called Trisomy 13 or Trisomy 18. Trisomy 21 is when you have Down Syndrome. 13 and 18 are more rare, and more severe. Even though each of these things can be operated on, it becomes a question of how much can an infant take. The hardest part was hearing that the rate of survival is 10% within the womb, and 10% outside of the womb.
After some research, we have found that boys diagnosed with Trisomy 13 or 18 have less chance of survival than girls. We have found that most babies who come full term only survive a few days, weeks, or months.
The dr's recommended an amniocentesis to help provide an official diagnosis. This test would also help us know what our chances of having another pregnancy like this would be. There is nothing that can be done for Jonathan, medically, inside the womb. The genetic counselor could not see anything initially indicating that Danny or I are carrying a gene that would cause this. If that is true, it would simply mean that this happened by chance and neither of us did anything to cause this.
Amniocentesis
We decided to do the amniocentesis and had the procedure done on July 24th. It was pretty quick, fairly simple, and somewhat painful. They stuck a long needle into my uterus around my belly button and used the ultrasound to make sure they weren't going to poke Jonathan. It took about 90 seconds to pull out enough amniotic fluid. Jonathan is already sloughing off dead skin cells, which are hanging out in the amniotic fluid. This is the DNA they tested.
We got the results of the FISH test, which is a faster version, on Thursday afternoon. We will get the full results 10-14 days from the 24th. The preliminary results show that Jonathan has Trisomy 18 so this is the current diagnosis. This doesn't change the information we already had, it just gives it a name and leads us to initially believe that Danny and I are not carrying any genetic defects.
