When I had my second trimester screening done, knowing that the embryos were PGD tested, I really didn't think much of it. Just another routine test that needed to be done. So when I got a call that my test came back positive, I figured something must be wrong. My doctor reassured me that the PGD testing is far more accurate than this test and not to worry. So I schedule an appointment to meet with a genetic counselor and have a detailed ultrasound done.
I went to that appointment today and talked to the genetic counselor who was very wonderful. I had both of my girls with me and she was great at being understand to their busy needs. She explained what the risks meant, that based on the egg donor age and the amount of protein found in my blood, there is a 1/150 chance that one or both of the girls has down syndrome. She said that I would be having an ultrasound done that will be more detailed and if there are any markers (white spots) that could also be a sign of DS they would let me know.
She also let me know that I could have either the Maternity21 blood test done or the Amniocentesis done as well. The Maternity21 is 99% accurate, which is similar to the PGD test that was done. The Amnio test would be 100% accurate. For twins they actually put blue dye in one of the babies sacs so when they draw out the fluid they know they didn't get the same sac twice.
I declined the test at this point because depending on the ultrasound, it will really be up to the IPs what they want to do.
When it was time we went in for the ultrasound. Daisy was excited to see her friends on TV. Doctor measured everything on twin A first. She is head down and all her measurements were perfect. However, he did find one small ICEF (intracardiac echogenic focus) This is a bright white spot in the left ventricle of the heart. This spot alone really doesn't mean much and is likely a normal variation in development. But along with the blood test, could mean Downs. It's not a definite though.
The doctor then checked twin B who was also head down. He found that all her measurements were perfect as well and she didn't have any spot in her heart. So her risk factor is a lot less.
Twin A weighs about 1lb 3oz, and Twin B weighs about 1lb 2oz. Both there heartbeats were great. 147 & 135.
I went to that appointment today and talked to the genetic counselor who was very wonderful. I had both of my girls with me and she was great at being understand to their busy needs. She explained what the risks meant, that based on the egg donor age and the amount of protein found in my blood, there is a 1/150 chance that one or both of the girls has down syndrome. She said that I would be having an ultrasound done that will be more detailed and if there are any markers (white spots) that could also be a sign of DS they would let me know.
She also let me know that I could have either the Maternity21 blood test done or the Amniocentesis done as well. The Maternity21 is 99% accurate, which is similar to the PGD test that was done. The Amnio test would be 100% accurate. For twins they actually put blue dye in one of the babies sacs so when they draw out the fluid they know they didn't get the same sac twice.
I declined the test at this point because depending on the ultrasound, it will really be up to the IPs what they want to do.
When it was time we went in for the ultrasound. Daisy was excited to see her friends on TV. Doctor measured everything on twin A first. She is head down and all her measurements were perfect. However, he did find one small ICEF (intracardiac echogenic focus) This is a bright white spot in the left ventricle of the heart. This spot alone really doesn't mean much and is likely a normal variation in development. But along with the blood test, could mean Downs. It's not a definite though.
The doctor then checked twin B who was also head down. He found that all her measurements were perfect as well and she didn't have any spot in her heart. So her risk factor is a lot less.
Twin A weighs about 1lb 3oz, and Twin B weighs about 1lb 2oz. Both there heartbeats were great. 147 & 135.
I emailed the girls mom to let her know this news. I feel for her. To come this far and then hear this news... I really believe both girls are healthy and well but will do what needs to be done if they ask for reassurance.
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