Tuesday, April 16, 2013

Maternal Fetal Medicine Visit 1

We had our first visit with a specialist with Maternal Fetal Medicine that was going to do a more in-depth ultra sound.  We headed into the appointment thinking that they were going to look at the cleft lip and double check everything but maybe give us a better idea the severity of her cleft lip.  The ultrasound tech started doing all the measurements on our little girl.  She kept laughing the whole time and explained that she was laughing because our little girl was very active and every time she went to freeze the frame she would move and she had to keep trying.  So we discussed our other children and how they were movers too.  I talked about how I couldn't feel her that much.  The tech stated that was because of where my placenta was (which we knew it was in the front so it was acting as a pillow).  She finished and stated that the doctor would be in and go over everything also.  So the doctor entered quickly after and started also doing an ultrasound and measurements.  She was talking us through what she was seeing.  She seemed to think that things look good.  At the end she did mention that she never noticed our little girl open her hands.  She said this could be coincidence or it could be what they call clenched fist.  She showed us the cyst and repeated pretty much the same thing my doctor told us that it could be a marker but it doesn't cause harm itself.  She then said she was sending in the genetic counselor to talk to us.  My husband and I looked at each other and talked about how they barely talked about the cleft lip, and only that it looked like it was unilateral and on the left side.  The genetic counselor and her intern came in and started to talk about what they were noticing on the ultrasound.  She stated they see three markers that could possibly be trisomy 18... have you heard of trisomy 18? We look at each other and say no we haven't.  She continues to say that the cyst, the cleft lip, and the clenched fist could be markers for trisomy 18 which is a rare thing that happens at conception where three chromosomes 18 are  formed.  She then started to talk about the stats.  She states that their is 1-6,000 chance of having a child with trisomy 18.  Of that most do not make it through delivery alive and those that are born alive have less than 10% chance of making it to age 1 with most only living a week or less.  Ok so these stats are awful to hear and I think we were just so stunned.  I of course immediately had tears rolling down  my face.  If someone tells me that I most likely won't get to hold my little girl alive I am going to cry and not know what to say.  The genetic counselors were very nice and talked to us about our options with determining if our daughter had trisomy 18.  We could do a amniocentesis which is 1-250 that can have a miscarriage from the procedure or we could do a newer blood test that looks at three different chromosomes 18, 13, and 21. The blood test is normally not covered by insurance because it is newer (ok I am thinking money is not important at this point but I know they had to warn us so we could be educated with our decision). At this point I don't either of us knew what to do or what to say.  Jake spoke up and asked if we could have a minute to discuss.  They reassured us that we could take our time and left the room.  We both just looked at each other and started to cry.  I said I have no idea what to do.  I just wanted to rewind the clock and go back to having just a cleft lip possibly facing us.  We discussed the amnio and decided that we didn't want the additional risk and the blood test was not a risk for either myself or the baby.  We had the doctor and gentist come back in.  We asked if the amnio increased the odds of miscarriage if our baby had trisomy the doctors did not think so.  The doctor talked to us and said that we could do the blood test and if we then decided to do a amnio later that we could.  We said we would just do the blood test.  They informed us that the results could take 7-10 business days. They also let us know that the blood test had a 98% accuracy for detecting trisomy 18.  So we pulled ourselves together and headed to the lab to get my blood taken.  After the blood draw we got in the car and I asked Jake if he was ok to go back to work he stated that he needed to so I dropped him off and headed home.  I was not looking forward to informing our family that once again we found out additional concerns with our daughter.  I don't like seeing other people ache let alone know in some way I was causing that pain and sorrow.

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