Wednesday, December 8, 2010

amniocentesis and genetic counselling

The Monday following the ultrasound, I met with the head of maternal – fetal medicine and proceeded with an amniocentesis. An amniocentesis is a procedure where a fine needle is inserted into the uterus withdrawing a sample of amniotic fluid. The fluid is then DNA tested for genetic abnormalities. You can also find out the sex of the baby with 100% accuracy. The doctor uses an ultrasound to guide the needled. She showed me our babies stomach sitting right beside the beating heart, which was pushed over to the right side of the chest. Exactly where it should not be.

During the same appointment, we were joined by a specialist neonatal doctor to help her explain CDH and Trisomy 18 more fully. The chances of having a baby with CDH is about 2%. The chance of having another baby with CDH is about 2%. The neonatalist presented a much more positive prognosis than Wikipedia – 60-92% of babies born, full term with no other abnormalities, survive. Other abnormalities include heart defeats or chomosomol conditions, like Trisomy 18. Trisomy 18 is always fatal, usually within a few days of birth, and termination of pregnancy would be recommended. They also explained that some parents also decide to terminate pregnancies with the diagnosis of CDH and that they would support whatever decision we made. I asked a question about terminating the pregnancy. The doctor explained the procedure. I was totally horrified to learn that I would have to go through labour. My reponse was, "I have to be concious? Can I be unconcious?"

Completely overwhelmed, I rang my husband and told him he needed to come home from working overseas - he got on a plane the next morning.

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