Just a simple family's experience with the possibility of a child with Trisomy 18

Sunday, February 5, 2012

Second Ultrasound


     We went in for a second ultrasound last week. The Perinatologist explained Trisomy 18 to us.  He told us the typical "Trisomy 18 markers" he would be looking for and started checking over the various body parts and organs. Trisomy 18 markers include: a defective heart, clenched fists, rocker bottom feet, delayed growth, and kidney abnormalities.
     The good news we received is that his heart looks good and the brain cysts are gone.  He also didn't notice any external abnormalities.
     The bad news is there is still fluid in his kidneys. On a positive note, there is also fluid in the bladder, which means the kidney's are draining something.  We are scheduled to have another ultrasound in 7 weeks.  The doctor offered to us an amniocentesis, a procedure where they put a needle into the womb, draw out some of the amniotic fluid, and test the babies DNA for Trisomy 18.
     The bottom line is that without an amniocentesis we really don't know much. The ultrasound isn't precise enough to tell us much.  At this point, as far as we understand, there isn't anything that can be done if they find the extra chromosome-except that they could have specialized doctors on hand at the birth just in case. So we decided to hold off on the amniocentesis until our next ultrasound in March.  The risks of the amniocentesis on the baby decrease the farther along they are.

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